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Is Congenital bilateral absence of the vas deferens inherited ? | How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carr... | |
How to diagnose Congenital bilateral absence of the vas deferens ? | Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed ... | |
What are the symptoms of Phosphoglycerate kinase deficiency ? | What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Warfarin syndrome ? | What are the signs and symptoms of Warfarin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin 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) Guanidinoacetate methyltransferase deficiency ? | Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limite... | |
What are the symptoms of Guanidinoacetate methyltransferase deficiency ? | What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What is (are) Pectus carinatum ? | Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breat... | |
What are the symptoms of Anterior polar cataract 2 ? | What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 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 M... | |
What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ? | What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Long QT syndrome 8 ? | Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. ... | |
What are the symptoms of Long QT syndrome 8 ? | What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. 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 Diction... | |
What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15... | |
What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? | What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Tracheobronchomalacia ? | Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood a... | |
What are the symptoms of Tracheobronchomalacia ? | What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typi... | |
What causes Tracheobronchomalacia ? | What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with ... | |
Is Tracheobronchomalacia inherited ? | Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the diso... | |
How to diagnose Tracheobronchomalacia ? | How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severit... | |
What are the treatments for Tracheobronchomalacia ? | How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial t... | |
What is (are) Oral lichen planus ? | Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in t... | |
What are the treatments for Oral lichen planus ? | How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines... | |
What are the symptoms of SeSAME syndrome ? | What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME 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... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2O ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. 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) Osteopathia striata cranial sclerosis ? | Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the c... | |
What are the symptoms of Osteopathia striata cranial sclerosis ? | What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Multiple epiphyseal dysplasia 4 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. 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 are the symptoms of Odonto onycho dysplasia with alopecia ? | What are the signs and symptoms of Odonto onycho dysplasia with alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odonto onycho dysplasia with alopecia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Atypical hemolytic uremic syndrome ? | Atypical hemolytic-uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is oft... | |
What are the symptoms of Atypical hemolytic uremic syndrome ? | What are the signs and symptoms of Atypical hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Atypical hemolytic uremic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
How to diagnose Atypical hemolytic uremic syndrome ? | Is genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the "testing" link pertaining ... | |
What is (are) Duane syndrome type 1 ? | Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the ey... | |
What are the symptoms of Duane syndrome type 1 ? | What are the signs and symptoms of Duane syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 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 D... | |
What are the treatments for Duane syndrome type 1 ? | How might Duane syndrome type 1 be treated? Management of Duane syndrome is mainly supportive. It may involve treatment of amblyopia ("lazy eye"); wearing glasses or contact lenses; the use of prisms to correct for abnormal head posture; or possible eye muscle surgery. The majority of people with Duane syndrome do not ... | |
What is (are) Scurvy ? | Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features ... | |
What are the symptoms of Scurvy ? | What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. 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 defin... | |
What are the symptoms of Frias syndrome ? | What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias 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 l... | |
What are the symptoms of Chromosome 6q25 microdeletion syndrome ? | What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Baylisascaris infection ? | Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons oft... | |
What are the treatments for Baylisascaris infection ? | How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred b... | |
What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Combined oxidative phosphorylation deficiency 16 ? | Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye probl... | |
What are the symptoms of Combined oxidative phosphorylation deficiency 16 ? | What are the signs and symptoms of Combined oxidative phosphorylation deficiency 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined oxidative phosphorylation deficiency 16. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Glycosylphosphatidylinositol deficiency ? | What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. 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 Multiple epiphyseal dysplasia 1 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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 M... | |
What are the symptoms of Dermatoleukodystrophy ? | What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. 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 is (are) Mondor disease ? | Mondor disease is a rare condition that is characterized by scarring and inflammation of the veins located just beneath the skin of the chest. The affected veins are initially red and tender and subsequently become a painless, tough, fibrous band that is accompanied by tension and retraction of the nearby skin. In most... | |
What is (are) Protein C deficiency ? | Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can... | |
What are the symptoms of Protein C deficiency ? | What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C 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 Dic... | |
What causes Protein C deficiency ? | What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein ... | |
Is Protein C deficiency inherited ? | How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or fathe... | |
How to diagnose Protein C deficiency ? | How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver... | |
What are the treatments for Protein C deficiency ? | How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfari... | |
What is (are) 15q11.2 microdeletion ? | 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language ... | |
What are the symptoms of 15q11.2 microdeletion ? | What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the conditio... | |
What causes 15q11.2 microdeletion ? | What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.... | |
What is (are) Oculocutaneous albinism type 2 ? | Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form ... | |
What are the symptoms of Oculocutaneous albinism type 2 ? | What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism 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 Med... | |
What is (are) 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the ... | |
What are the symptoms of 11-beta-hydroxylase deficiency ? | What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase 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 Med... | |
Is 11-beta-hydroxylase deficiency inherited ? | How is 11-beta-hydroxylase deficiency inherited? This condition 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 sign... | |
How to diagnose 11-beta-hydroxylase deficiency ? | Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care ... | |
What is (are) Serpiginous choroiditis ? | Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in... | |
What causes Serpiginous choroiditis ? | What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process. | |
Is Serpiginous choroiditis inherited ? | Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described. | |
What are the treatments for Serpiginous choroiditis ? | Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2H ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. 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) Oculocutaneous albinism ? | Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabis... | |
What are the symptoms of Oculocutaneous albinism ? | What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. 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 Medic... | |
What are the treatments for Oculocutaneous albinism ? | What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing prot... | |
What is (are) Fanconi anemia ? | Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to ... | |
What are the symptoms of Fanconi anemia ? | What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. 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 l... | |
What are the symptoms of Diffuse cutaneous systemic sclerosis ? | What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. 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 Dwarfism, mental retardation and eye abnormality ? | What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Osteoglophonic dysplasia ? | What are the signs and symptoms of Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic 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 Med... | |
What is (are) Schizencephaly ? | Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also hav... | |
What are the symptoms of Schizencephaly ? | What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including ... | |
What causes Schizencephaly ? | What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schi... | |
Is Schizencephaly inherited ? | Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene. | |
How to diagnose Schizencephaly ? | Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed t... | |
What are the treatments for Schizencephaly ? | How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physica... | |
What are the symptoms of Anencephaly and spina bifida X-linked ? | What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Centronuclear myopathy ? | Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause... | |
What are the symptoms of Centronuclear myopathy ? | What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. 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 is (are) Lupus nephritis ? | Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people age... | |
What are the symptoms of Fucosidosis type 1 ? | What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 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 Diction... | |
What are the symptoms of Stomatocytosis I ? | What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis 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 ... | |
What is (are) Megalocytic interstitial nephritis ? | Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign subs... | |
What are the symptoms of Megalocytic interstitial nephritis ? | What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). | |
What causes Megalocytic interstitial nephritis ? | What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. | |
What are the symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ? | What are the signs and symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM)? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness with labyrinthine aplasia microtia and microdontia (LAMM). If the information is available, the table below includes how ofte... | |
What are the symptoms of Follicle-stimulating hormone deficiency, isolated ? | What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What are the symptoms of Dystonia 3, torsion, X-linked ? | What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. 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) Familial stomach cancer ? | Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, gen... | |
What is (are) Oculopharyngeal muscular dystrophy ? | Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are... | |
What are the symptoms of Oculopharyngeal muscular dystrophy ? | What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of O... | |
What causes Oculopharyngeal muscular dystrophy ? | What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules cal... | |
Is Oculopharyngeal muscular dystrophy inherited ? | How is oculopharyngeal muscular dystrophy inherited? | |
How to diagnose Oculopharyngeal muscular dystrophy ? | Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting test... | |
What are the treatments for Oculopharyngeal muscular dystrophy ? | How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surger... | |
What is (are) Hypersensitivity vasculitis ? | Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urtica... |
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