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What are the symptoms of Citrullinemia type I ? | What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness. Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy. Episodes of high blood ammonia often happen after going without food for long periods of time, during illness or infection or after high-protein meals. Some people with gene mutations that cause citrullinemia type I never experience signs and symptoms of the disorder and are only found to be affected after a brother or sister is diagnosed. The Human Phenotype Ontology provides the following list of signs and symptoms for Citrullinemia type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hepatomegaly - Hyperammonemia - Hyperglutaminemia - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Neonatal onset - Oroticaciduria - Phenotypic variability - Protein avoidance - Respiratory alkalosis - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Citrullinemia type I ? | What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition. | |
Is Citrullinemia type I inherited ? | How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | |
What are the treatments for Citrullinemia type I ? | What happens when citrullinemia type I is not treated? Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life. | |
What are the symptoms of Optic atrophy 2 ? | What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of 19p13.12 microdeletion syndrome ? | What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Mantle cell lymphoma ? | Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood cells that make up the lymphatic system. There are two main types: B-lymphocytes (B-cells) and T-lymphocytes (T-cells). Mantel cell lymphoma is a B-cell lymphoma that develops from cancerous B-cells within a region of the lymph node known as the mantle zone. Although mantle cell lymphomas are slow-growing cancers, at the time of diagnosis, they are usually widespread in the lymph nodes and require intensive treatment because they can become lethal within a short period of time. | |
What are the symptoms of Mantle cell lymphoma ? | What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Mantle cell lymphoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hematological neoplasm 90% Lymphadenopathy 90% Anorexia 50% Splenomegaly 50% Weight loss 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Mantle cell lymphoma ? | What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non-Hodgkin lymphomas (NHL) have been linked to viral infections including Ebstein-Barr virus, HIV, and human herpesvirus 6. It has also been found that immunodeficiencies and environmental factors like hair dyes and pesticides may lead to NHLs. | |
How to diagnose Mantle cell lymphoma ? | How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be found by genetic molecular testing methods such as PCR and FISH. | |
What are the treatments for Mantle cell lymphoma ? | How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. | |
What is (are) Buschke Ollendorff syndrome ? | Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS. BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms. | |
What are the symptoms of Buschke Ollendorff syndrome ? | What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). Occasionally, they may be on the head. The nevi are usually nontender and firm, and are typically first noticeable as slightly elevated and flattened yellowish bumps, grouped together and forming plaques that may be several centimeters in diameter. The plaques are typically of irregular shape. They are usually numerous, painless, and develop over several years. The osteopoikilosis typically occurs in the long bones, wrist, foot, ankle, pelvis, and scapula. They are harmless and usually found by chance when radiographs are taken for other purposes, although pain and limited joint mobility have been reported in some individuals. In some individuals, only skin or bone manifestations may be present. Other signs and symptoms of BOS may include nasolacrimal duct obstruction, amblyopia ("lazy eye"), strabismus, benign lymphoid hyperplasia, hypopigmentation (abnormally light skin), and short stature. Congenital spinal stenosis (narrowing of the spine), disc herniation, clubfoot deformity, and nerve root compression may be present. Otosclerosis (abnormal growth of bone in the middle ear) with or without hearing loss may occur, but is rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Buschke Ollendorff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Abnormality of epiphysis morphology 90% Abnormality of the aorta 90% Abnormality of the metaphyses 90% Abnormality of the teeth 90% Abnormality of the voice 90% Bone pain 90% Generalized hypopigmentation 90% Hearing impairment 90% Hyperostosis 90% Increased bone mineral density 90% Microcephaly 90% Sarcoma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Visual impairment 90% Mediastinal lymphadenopathy 50% Strabismus 50% Abnormal diaphysis morphology 7.5% Arthralgia 7.5% Arthritis 7.5% Atypical scarring of skin 7.5% Flexion contracture 7.5% Melanocytic nevus 7.5% Myalgia 7.5% Non-midline cleft lip 7.5% Palmoplantar keratoderma 7.5% Recurrent fractures 7.5% Type I diabetes mellitus 7.5% Autosomal dominant inheritance - Hoarse voice - Joint stiffness - Nevus - Osteopoikilosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Buschke Ollendorff syndrome inherited ? | How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS. | |
How to diagnose Buschke Ollendorff syndrome ? | Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. | |
What are the treatments for Buschke Ollendorff syndrome ? | How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150] | |
What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ? | What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) IgA deficiency - IgG deficiency - Immunodeficiency - Impaired memory B-cell generation - Increased IgM level - Recurrent mycobacterium avium complex infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Keratolytic winter erythema ? | What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Pseudohypoparathyroidism type 2 ? | What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Achalasia ? | Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. Achalasia is typically diagnosed in individuals between 25 and 60 years of age. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox, medications, or surgery. | |
What are the symptoms of Achalasia ? | What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss. | |
What causes Achalasia ? | What causes achalasia? The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears to be inherited. There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population. | |
How to diagnose Achalasia ? | How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful. | |
What are the treatments for Achalasia ? | How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter Surgery (Heller myotomy) to decrease the pressure in the lower sphincter Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy) You can learn more about these treatment options by clicking on the following links: eMedicine Esophageal Motility Disorders Merck Manuals Motility Disorders A doctor should help to determine the best treatment for each individual situation. | |
What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function.[9873] HSAN type I is the most common form of HSAN. It is caused by a mutation in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by mutations in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by mutations in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by mutations in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by mutations in the NGFB gene and inherited in an autosomal recessive manner. | |
What is (are) Nodular nonsuppurative panniculitis ? | Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health (malaise), muscle pain, and/or abdominal pain. These symptoms may subside after a few days or weeks and may recur weeks, months, or years later. The exact cause of nodular nonsuppurative panniculitis is unknown. | |
What are the symptoms of Nodular nonsuppurative panniculitis ? | What are the signs and symptoms of Nodular nonsuppurative panniculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular nonsuppurative panniculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormality of temperature regulation 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Cellulitis 90% Edema 90% Myalgia 90% Nausea and vomiting 90% Weight loss 90% Autoimmunity 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Splenomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Nodular nonsuppurative panniculitis ? | How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another underlying disorder. If there is an underlying disorder, treatment of this disorder may relieve the symptoms of NNP. In some cases, skin lesions heal spontaneously (remission) but the lesions often later return. There is no treatment method found to be effective for all individuals with NNP. Medications used to treat the condition may include systemic steroids (such as prednisone) to suppress sudden attacks; nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce fever and other signs of malaise; and/or immunosuppressive drugs. Relief of symptoms in some affected individuals has also been reported with fibrinolytic agents (medications that help prevent blood clots), hydroxychloroquine, azathioprine, thalidomide, cyclophosphamide, tetracycline, cyclosporin, mycophenolate, and clofazimine. More detailed information about the management of nodular nonsuppurative panniculitis is available on the Treatment and Medication sections of the Medscape Reference Web site. | |
What are the symptoms of PPM-X syndrome ? | What are the signs and symptoms of PPM-X syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PPM-X syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Behavioral abnormality 90% Cognitive impairment 90% Hypertonia 90% Macroorchidism 90% EEG abnormality 50% Gait disturbance 50% Macrotia 50% Seizures 50% Abnormality of the cardiovascular system 7.5% Developmental regression 7.5% Scoliosis 7.5% Abnormality of the teeth - Ataxia - Babinski sign - Bruxism - Choreoathetosis - Delayed speech and language development - Drooling - Excessive salivation - Facial hypotonia - High palate - Hyperreflexia - Intellectual disability, mild - Microcephaly - Parkinsonism - Pes cavus - Psychosis - Short neck - Shuffling gait - Slow progression - Spastic gait - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ? | What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Decreased liver function - Dehydration - Metabolic acidosis - Myoglobinuria - Neonatal death - Rhabdomyolysis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Rommen Mueller Sybert syndrome ? | What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the nipple 50% Abnormality of the ribs 50% Anterior creases of earlobe 50% Downturned corners of mouth 50% Long palpebral fissure 50% Long philtrum 50% Plagiocephaly 50% Proximal placement of thumb 50% Single transverse palmar crease 50% Tetralogy of Fallot 50% Ventricular septal defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges ? | What are the signs and symptoms of Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Anonychia 90% Aplastic/hypoplastic toenail 90% Brachydactyly syndrome 90% Split hand 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Complete duplication of thumb phalanx - High palate - Nail dysplasia - Nail dystrophy - Prominent nasal bridge - Prominent nose - Short 5th finger - Short philtrum - Shortening of all distal phalanges of the fingers - Shortening of all distal phalanges of the toes - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Isolated corpus callosum agenesis ? | Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities. Treatment usually involves management of symptoms and seizures if they occur. | |
What are the symptoms of Isolated corpus callosum agenesis ? | What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Abnormality of the fontanelles or cranial sutures 50% EEG abnormality 50% Microcephaly 50% Abnormality of the pulmonary artery 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Dandy-Walker malformation 7.5% Deeply set eye 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Macrocephaly 7.5% Strabismus 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Camptodactyly - Growth delay - Intellectual disability - Joint contracture of the hand - Preauricular skin tag - Prominent forehead - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Otofaciocervical syndrome ? | What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of periauricular region 90% Abnormality of the clavicle 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Conductive hearing impairment 90% Depressed nasal bridge 90% Full cheeks 90% Hyperreflexia 90% Hypertonia 90% Macrotia 90% Neurological speech impairment 90% Short stature 90% Sprengel anomaly 90% Abnormality of the antihelix 50% Delayed skeletal maturation 50% Atresia of the external auditory canal 7.5% Facial asymmetry 7.5% Renal hypoplasia/aplasia 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Cerebral sarcoma ? | What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fibrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Pelizaeus-Merzbacher-like disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebral atrophy - Cerebral hypomyelination - Choreoathetosis - Cognitive impairment - Decreased motor nerve conduction velocity - Demyelinating motor neuropathy - Dysarthria - Dystonia - Facial palsy - Head titubation - Infantile onset - Intention tremor - Leukodystrophy - Motor delay - Muscular hypotonia of the trunk - Myopia - Optic atrophy - Poor speech - Progressive spasticity - Rigidity - Rotary nystagmus - Seizures - Sensory axonal neuropathy - Spastic paraparesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Benign multicystic peritoneal mesothelioma ? | Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown. | |
What are the treatments for Benign multicystic peritoneal mesothelioma ? | How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign. | |
What are the symptoms of Transcobalamin 1 deficiency ? | What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Paresthesia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Osteopetrosis autosomal dominant type 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis. | |
What are the symptoms of Osteopetrosis autosomal dominant type 2 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 3 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Areflexia - Decreased nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Pes cavus - Steppage gait - Upper limb muscle weakness - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Sabinas brittle hair syndrome ? | What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nail dystrophy 5% Autosomal recessive inheritance - Brittle hair - Dry hair - Hypotrichosis - Intellectual disability - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ? | What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene. | |
What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals. Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene. | |
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain). | |
What are the symptoms of Benign paroxysmal positional vertigo ? | What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gait imbalance - Slow progression - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Trismus-pseudocamptodactyly syndrome ? | Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most serious complications of the condition occur as a result of the limited mobility of the mouth. Treatment may involve surgical correction and physical therapy. | |
What are the symptoms of Trismus-pseudocamptodactyly syndrome ? | What are the signs and symptoms of Trismus-pseudocamptodactyly syndrome? While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4 of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists, club foot, metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth. Children with this syndrome may crawl on their knuckles. In adulthood the syndrome may cause reduced hand dexterity, however hand limitation does not often interfere with normal function. The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation. The Human Phenotype Ontology provides the following list of signs and symptoms for Trismus-pseudocamptodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature 90% Limitation of joint mobility 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the hip bone 7.5% Mandibular prognathia 7.5% Ptosis 7.5% Deep philtrum 5% Macrocephaly 5% Autosomal dominant inheritance - Cutaneous syndactyly of toes - Distal arthrogryposis - Dysphagia - Facial asymmetry - Feeding difficulties - Hammertoe - Hip dislocation - Talipes equinovarus - Trismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Trismus-pseudocamptodactyly syndrome ? | How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with your healthcare provider to learn more about specific treatment options. | |
What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? | What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Bone cyst 50% Glomerulopathy 50% Hypercalcemia 50% Hyperparathyroidism 50% Proteinuria 50% Renal insufficiency 50% Anemia 7.5% Autosomal recessive inheritance - Nephropathy - Parathyroid hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Triploidy ? | Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Triploidy ? | What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pancreas 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Macrocephaly 7.5% Meningocele 7.5% Narrow mouth 7.5% Short neck 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Exudative retinal detachment - Pulmonic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Weissenbacher-Zweymuller syndrome ? | What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of 8p23.1 duplication syndrome ? | What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 50% Highly arched eyebrow 50% Neurological speech impairment 50% Abnormality of the nose 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the upper urinary tract 7.5% Deeply set eye 7.5% Exostoses 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Long philtrum 7.5% Primary adrenal insufficiency 7.5% Tetralogy of Fallot 7.5% Thick lower lip vermilion 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Total Hypotrichosis, Mari type ? | What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Trisomy 2 mosaicism ? | Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects. Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you. | |
What is (are) GM1 gangliosidosis ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive. | |
What are the symptoms of GM1 gangliosidosis ? | What are the signs and symptoms of GM1 gangliosidosis? There are three general types of GM1 gangliosidosis, which differ in severity but can have considerable overlap of signs and symptoms. Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of age). Affected infants typically appear normal until onset, but developmental regression (loss of acquired milestones) eventually occurs. Signs and symptoms may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, a distended abdomen, muscle weakness, an exaggerated startle response to sound, and problems with gait (manner of walking). About half of people with this type develop cherry-red spots in the eye. Children may become deaf and blind by one year of age. Affected children typically do not live past 2 years of age. Juvenile (type 2) GM1 gangliosidosis is considered an intermediate form of the condition and may begin between the ages of 1 and 5. Features include ataxia, seizures, dementia, and difficulties with speech. This type progresses more slowly than type 1, but still causes decreased life expectancy (around mid-childhood or early adulthood). Adult (type 3) GM1 gangliosidosis may cause signs and symptoms to develop anywhere between the ages of 3 and 30. Affected people may have muscle atrophy, corneal clouding and dystonia. Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Arthralgia 90% Coarse facial features 90% Depressed nasal ridge 90% Encephalitis 90% Frontal bossing 90% Hyperreflexia 90% Hypertonia 90% Limitation of joint mobility 90% Long philtrum 90% Macrotia 90% Muscular hypotonia 90% Nystagmus 90% Rough bone trabeculation 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Splenomegaly 90% Weight loss 90% Abnormal form of the vertebral bodies 50% Abnormality of the tongue 50% Camptodactyly of finger 50% Gingival overgrowth 50% Hernia of the abdominal wall 50% Hyperlordosis 50% Hypertrichosis 50% Incoordination 50% Mandibular prognathia 50% Opacification of the corneal stroma 50% Seizures 50% Strabismus 50% Tremor 50% Abnormality of the macula 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the scrotum 7.5% Congestive heart failure 7.5% Optic atrophy 7.5% Recurrent respiratory infections 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes GM1 gangliosidosis ? | What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels. | |
Is GM1 gangliosidosis inherited ? | How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family. | |
How to diagnose GM1 gangliosidosis ? | Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. | |
What are the treatments for GM1 gangliosidosis ? | How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy. | |
What is (are) IBIDS syndrome ? | Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). | |
What are the symptoms of IBIDS syndrome ? | What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is IBIDS syndrome inherited ? | What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier. | |
What are the treatments for IBIDS syndrome ? | What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. | |
What are the symptoms of Telfer Sugar Jaeger syndrome ? | What are the signs and symptoms of Telfer Sugar Jaeger syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Hypopigmentation of hair 90% Hypopigmented skin patches 90% Poikiloderma 90% Abnormality of the eyebrow 50% Cognitive impairment 50% Hypermelanotic macule 50% Incoordination 50% Sensorineural hearing impairment 50% Aganglionic megacolon 7.5% Heterochromia iridis 7.5% Neoplasm of the skin 7.5% Absent pigmentation of the ventral chest - Ataxia - Autosomal dominant inheritance - Hearing impairment - Intellectual disability - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. | |
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Congenital intrauterine infection-like syndrome ? | What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine). | |
What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Heterogeneous - Increased serum ferritin - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. | |
What are the treatments for Sideroblastic anemia pyridoxine-refractory autosomal recessive ? | How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated? Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol. | |
What is (are) Neurocutaneous melanosis ? | Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried. | |
What are the symptoms of Neurocutaneous melanosis ? | What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Melanocytic nevus 90% Seizures 90% Thickened skin 90% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Arnold-Chiari malformation 7.5% Behavioral abnormality 7.5% Chorioretinal coloboma 7.5% Cranial nerve paralysis 7.5% Dandy-Walker malformation 7.5% EEG abnormality 7.5% Encephalitis 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Melanoma 7.5% Meningocele 7.5% Renal hypoplasia/aplasia 7.5% Syringomyelia 7.5% Thrombophlebitis 7.5% Arachnoid cyst 5% Choroid plexus papilloma 5% Hydrocephalus 5% Meningioma 5% Death in infancy - Mental deterioration - Numerous congenital melanocytic nevi - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Pineal cyst ? | Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pineal cysts do not have any signs or symptoms. Rarely, a pineal cyst may cause headaches, hydrocephalus, eye movement abnormalities, and Parinaud syndrome. Treatment is usually only considered when a cyst is causing symptoms, in which case surgery, stereotactic aspiration or endoscopic treatment may be recommended. | |
What are the symptoms of Pineal cyst ? | What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare, people with symptomatic pineal cysts may have other symptoms such as difficulty moving (ataxia); mental and emotional disturbances; seizures; sleep (circadian rhythm) troubles; hormonal imbalances that may cause precocious puberty; or secondary parkinsonism. | |
What causes Pineal cyst ? | What causes pineal cysts? The exact cause of pineal cysts is unknown. However, some studies suggest that bleeding in the pineal region or hormonal influences may play a role in the development and progression of pineal cysts. | |
What are the treatments for Pineal cyst ? | How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. However, they may need to have regular check-ups with a physician and follow up imaging if they have a large cyst (greater than 10-14 mm) or develop symptoms that could be related to the cyst. Treatment is often recommended for those individuals with pineal cysts that cause hydrocephalus; neurological symptoms such as headache or disturbance of vision; or enlargement of the cyst over time. Treatment may include surgery to remove the cyst, sometimes followed by the placement of a ventriculoperitoneal shunt. Aspiration of the contents of the cyst using ultrasound guidance has been explored as an alternative approach to surgery, and more recently, endoscopic procedures have been used. Radiation therapy may be recommended for cysts that recur after treatment. What is the appropriate follow-up for a pineal cyst found incidentally on MRI? There is limited information about what happens to a pineal cyst over time. Several studies have shown that most pineal cysts remain stable and do not increase in size or cause symptoms later in life. One study found that larger cysts were more likely to decrease in size over time, and there is currently no evidence that larger cysts are more likely to cause symptoms. Because guidelines for management depend on an understanding of the typical course of a condition, and currently there is limited information about pineal cysts, there is some debate about the most appropriate way to manage these cysts. Some studies do not recommend repeated magnetic resonance imaging (MRI) of the cyst. Other studies state that repeated imaging of a pineal cyst is not required. Another approach is for individuals with a pineal cyst to have regular check-ups with their personal doctor; if at any point new symptoms arise that may be related to the pineal cyst, repeat imaging should be done. | |
What is (are) Reynolds syndrome ? | Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. Although generally considered an autoimmune disorder, other causes have been suggested, including genetics. Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion. | |
What are the symptoms of Reynolds syndrome ? | What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Hepatomegaly 90% Myalgia 90% Pruritus 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Arthritis 50% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Irregular hyperpigmentation 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Mucosal telangiectasiae 50% Skin rash 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Ascites 7.5% Cirrhosis 7.5% Encephalitis 7.5% Lichenification 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Biliary cirrhosis - Calcinosis - Elevated alkaline phosphatase - Elevated hepatic transaminases - Gastrointestinal hemorrhage - Hyperbilirubinemia - Jaundice - Lip telangiectasia - Palmar telangiectasia - Sclerodactyly - Splenomegaly - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ? | What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Cor triatriatum ? | Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there is a small extra chamber above the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum). The presence of this extra atrial chamber can cause slowed passage of the blood from the lungs to the heart and, over time, lead to features of congestive heart failure and obstruction. In children, cor triatriatum may be associated with major congenital cardiac problems. In adults, it is often an isolated finding. Treatment depends upon the symptoms present and may include medical or surgical approaches. | |
What is (are) Juvenile Huntington disease ? | Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of HD cases. It is inherited in an autosomal dominant pattern and is caused by a mutation called a trinucleotide repeat in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life. | |
What are the symptoms of Juvenile Huntington disease ? | What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Juvenile Huntington disease ? | What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin protein is abnormally made, it is thought to lead to the death of neurons in certain areas of the brain, which causes the signs and symptoms of Juvenile HD. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with juvenile HD, the CAG segment is repeated more than 60 times. | |
Is Juvenile Huntington disease inherited ? | How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers. | |
How to diagnose Juvenile Huntington disease ? | How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autosomal dominant inheritance in a family. Usually a clinical exam is also performed where the persons hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status are examined. People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness. Genetic testing is usually done to confirm a diagnosis of juvenile HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region. GeneTests lists the names of laboratories that are performing genetic testing for Juvenile HD. To view the contact information for the clinical laboratories, conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you. | |
What are the treatments for Juvenile Huntington disease ? | How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with Juvenile HD. Tetrabenazine is often used to treat chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may also help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other drugs. Tranquilizers can help control anxiety and lithium may be prescribed to combat severe mood swings. | |
What are the symptoms of 3 methylglutaconic aciduria type V ? | What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Imerslund-Grasbeck syndrome ? | Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades. | |
What are the symptoms of Imerslund-Grasbeck syndrome ? | What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age. The Human Phenotype Ontology provides the following list of signs and symptoms for Imerslund-Grasbeck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Childhood onset - Confusion - Dementia - Malabsorption of Vitamin B12 - Megaloblastic anemia - Paresthesia - Proteinuria - Sensory impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
How to diagnose Imerslund-Grasbeck syndrome ? | How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria. | |
What are the symptoms of Optic atrophy polyneuropathy deafness ? | What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
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