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What are the symptoms of Amyloidosis corneal ? | What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. 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 Dicti... | |
How to diagnose Amyloidosis corneal ? | Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested ... | |
What are the symptoms of Early infantile epileptic encephalopathy 25 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Nail dysplasia, isolated congenital ? | What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Werner's syndrome ? | Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderm... | |
What are the symptoms of Werner's syndrome ? | What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's 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 Dictionar... | |
What is (are) Sideroblastic anemia ? | Sideroblastic anemia is a heterogeneous group of blood disorders 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... | |
What are the symptoms of Sideroblastic anemia ? | What are the symptoms of sideroblastic anemia? 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... | |
What causes Sideroblastic anemia ? | What causes sideroblastic anemia? The exact cause of sideroblastic anemia in many patients remains unknown. Reversible sideroblastic anemia can be caused by alcohol, isoniazid, pyrazinamide, cycloserine (a prescription antibiotic that may cause anemia, peripheral neuritis, or seizures by acting as a pyridoxine antagoni... | |
How to diagnose Sideroblastic anemia ? | How is sideroblastic anemia diagnosed? The principle feature of sideroblastic anemia is slowly progressive, mild, life-long anemia which often goes unnoticed. Symptoms of iron overload may lead to the discovery of this underlying disorder. The history and clinical findings, together with laboratory findings, usually pe... | |
What are the treatments for Sideroblastic anemia ? | How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turk... | |
What is (are) Hereditary spherocytosis ? | Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have sh... | |
What are the symptoms of Hereditary spherocytosis ? | What are the signs and symptoms of Hereditary spherocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. 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 Med... | |
What causes Hereditary spherocytosis ? | What causes hereditary spherocytosis? Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and... | |
Is Hereditary spherocytosis inherited ? | How is hereditary spherocytosis inherited? About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occu... | |
What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ? | What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Type 1 plasminogen deficiency ? | Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered ... | |
What are the symptoms of Type 1 plasminogen deficiency ? | What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most c... | |
What causes Type 1 plasminogen deficiency ? | What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site. | |
Is Type 1 plasminogen deficiency inherited ? | Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms. | |
What are the treatments for Type 1 plasminogen deficiency ? | How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. R... | |
What are the symptoms of Adrenocortical carcinoma ? | What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. 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 Med... | |
What is (are) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... | |
What is (are) Opsismodysplasia ? | Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and ch... | |
What are the symptoms of Opsismodysplasia ? | What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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 ... | |
What are the symptoms of Keratoconus posticus circumscriptus ? | What are the signs and symptoms of Keratoconus posticus circumscriptus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus posticus circumscriptus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Long QT syndrome ? | Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be ... | |
What are the symptoms of Long QT syndrome ? | What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the Natio... | |
What causes Long QT syndrome ? | What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long Q... | |
How to diagnose Long QT syndrome ? | How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosi... | |
What are the symptoms of Santos Mateus Leal syndrome ? | What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal 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 MedlinePl... | |
What are the symptoms of Leber congenital amaurosis 10 ? | What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Ankylosing spondylitis ? | Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and ma... | |
What are the symptoms of Ankylosing spondylitis ? | What are the signs and symptoms of Ankylosing spondylitis? Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time a... | |
Is Ankylosing spondylitis inherited ? | Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental facto... | |
What are the treatments for Ankylosing spondylitis ? | How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associa... | |
What are the symptoms of Steatocystoma multiplex with natal teeth ? | What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What are the symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome ? | What are the signs and symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Skin fragility-woolly hair-palmoplantar keratoderma syndrome. If the information is available, the table below includes how often the sympto... | |
What is (are) Richter syndrome ? | Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low... | |
What are the treatments for Richter syndrome ? | Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemoth... | |
What is (are) Distal chromosome 18q deletion syndrome ? | Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involve... | |
What are the symptoms of Distal chromosome 18q deletion syndrome ? | What are the signs and symptoms of Distal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Mitral valve prolapse, familial, X-linked ? | What are the signs and symptoms of Mitral valve prolapse, familial, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitral valve prolapse, familial, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Ehlers-Danlos syndrome, progeroid type ? | Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other... | |
What are the symptoms of Ehlers-Danlos syndrome, progeroid type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, progeroid type? Ehlers-Danlos syndrome refers to a group of connective tissue disorders characterized by stretchy or kneadable skin, double jointedness, and delayed healing of skin wounds. In addition to these traits, individuals with the progeroid type have th... | |
What causes Ehlers-Danlos syndrome, progeroid type ? | What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main... | |
Is Ehlers-Danlos syndrome, progeroid type inherited ? | How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual ... | |
What are the treatments for Ehlers-Danlos syndrome, progeroid type ? | How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordin... | |
What is (are) Hypoplastic right heart syndrome ? | Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial... | |
What are the symptoms of Larsen-like syndrome ? | What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-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 Dic... | |
What is (are) Neuroblastoma ? | Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5. It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). The symptoms of a n... | |
What are the symptoms of Neuroblastoma ? | What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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 loo... | |
What is (are) Portal hypertension ? | Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness an... | |
What are the symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia, Aggrecan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia, Aggrecan type. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Fryns Hofkens Fabry syndrome ? | What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry 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 Medline... | |
What is (are) L-2-hydroxyglutaric aciduria ? | L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the br... | |
What are the symptoms of L-2-hydroxyglutaric aciduria ? | What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | |
What are the symptoms of Dyschromatosis universalis hereditaria ? | What are the signs and symptoms of Dyschromatosis universalis hereditaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Chudley Rozdilsky syndrome ? | What are the signs and symptoms of Chudley Rozdilsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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... | |
What is (are) Chromosome 15q deletion ? | Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often oc... | |
What is (are) Macular degeneration ? | Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which ... | |
What are the symptoms of Chondrocalcinosis 1 ? | What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 1. 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 Dicti... | |
What are the symptoms of Hyperlipidemia type 3 ? | What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia 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 D... | |
What are the symptoms of Prekallikrein deficiency, congenital ? | What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What are the symptoms of Lenz Majewski hyperostotic dwarfism ? | What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) L1 syndrome ? | L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most sev... | |
What are the symptoms of L1 syndrome ? | What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 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... | |
What is (are) Restless legs syndrome ? | Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) make... | |
What is (are) Acute intermittent porphyria ? | Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, dru... | |
What are the symptoms of Acute intermittent porphyria ? | What are the signs and symptoms of Acute intermittent porphyria? Some people who inherit the gene for AIP never develop symptoms and are said to have "latent" AIP. Those individuals that present with symptoms usually do so after puberty, probably because of hormonal influences, although other activating factors include... | |
What causes Acute intermittent porphyria ? | What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the... | |
Is Acute intermittent porphyria inherited ? | How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms. | |
How to diagnose Acute intermittent porphyria ? | How is acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphy... | |
What are the treatments for Acute intermittent porphyria ? | How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid ... | |
What is (are) Pili torti ? | Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be pres... | |
What are the symptoms of Pili torti ? | What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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 t... | |
What are the treatments for Pili torti ? | Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If ... | |
What is (are) Severe combined immunodeficiency ? | Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear inf... | |
Is Severe combined immunodeficiency inherited ? | How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition ... | |
How to diagnose Severe combined immunodeficiency ? | How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibi... | |
What are the symptoms of Mucopolysaccharidosis type VI ? | What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childho... | |
What are the symptoms of Multiple familial trichoepithelioma ? | What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transfo... | |
What causes Multiple familial trichoepithelioma ? | What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone... | |
Is Multiple familial trichoepithelioma inherited ? | How is multiple familial trichoepithelioma inherited? Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance. This means that one copy of the altered gene in each cell increases the risk that a person will develop the condition. However, a second, non-inherited mutation i... | |
How to diagnose Multiple familial trichoepithelioma ? | How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be disti... | |
What are the treatments for Multiple familial trichoepithelioma ? | How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been... | |
What is (are) Familial avascular necrosis of the femoral head ? | Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but a... | |
What are the symptoms of Familial avascular necrosis of the femoral head ? | What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Spinocerebellar ataxia 10 ? | What are the signs and symptoms of Spinocerebellar ataxia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 10. 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 M... | |
What is (are) Hardikar syndrome ? | Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects... | |
What are the symptoms of Hardikar syndrome ? | What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar 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 Dictionar... | |
What are the symptoms of Hypomagnesemia primary ? | What are the signs and symptoms of Hypomagnesemia primary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia primary. 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... | |
What are the symptoms of Kaplan Plauchu Fitch syndrome ? | What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch 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 Medli... | |
What are the symptoms of Limb-girdle muscular dystrophy, type 2G ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Aganglionosis, total intestinal ? | What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on th... | |
What are the symptoms of Schisis association ? | What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. 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 Dicti... | |
What are the symptoms of Spastic paraplegia 15 ? | What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. 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 D... | |
What are the symptoms of Osteopoikilosis and dacryocystitis ? | What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
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