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What is (are) Benign schwannoma ? | Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of... | |
What are the symptoms of Benign schwannoma ? | What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor. | |
What causes Benign schwannoma ? | What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, n... | |
Is Benign schwannoma inherited ? | Are schwannomas inherited? Most schwannomas are not inherited. The vast majority of schwannomas occur by chance (sporadically) and as a single tumor. In these cases, people typically do not have affected family members. Around 5-10% of people develop multiple schwannomas. In these cases, the schwannomas may be due to a... | |
How to diagnose Benign schwannoma ? | Is genetic testing available for schwannomas? Genetic testing is not available for many individuals with schwannomas since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to schwan... | |
What are the treatments for Benign schwannoma ? | How might schwannoma be treated? The best treatment options for schwannoma depends on several factors, including the size and location of the tumor; whether the tumor is benign or malignant (cancerous); and the age and overall health of the affected person. For example, standard treatment for benign schwannomas is surg... | |
What is (are) Hantavirus pulmonary syndrome ? | Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especiall... | |
What is (are) Gaucher disease ? | Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3.... | |
What are the symptoms of Gaucher disease ? | What are the signs and symptoms of Gaucher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher 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... | |
What is (are) Ehlers-Danlos syndrome ? | Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis typ... | |
What are the symptoms of Ehlers-Danlos syndrome ? | What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility af... | |
What causes Ehlers-Danlos syndrome ? | What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, producti... | |
Is Ehlers-Danlos syndrome inherited ? | Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation... | |
How to diagnose Ehlers-Danlos syndrome ? | How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagn... | |
What are the treatments for Ehlers-Danlos syndrome ? | How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more s... | |
What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. If the information is available, the table below includes how often the symptom ... | |
What is (are) Polyarteritis nodosa ? | Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and j... | |
What are the symptoms of Polyarteritis nodosa ? | What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. 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 are the treatments for Polyarteritis nodosa ? | How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as ... | |
What are the symptoms of Recurrent hydatidiform mole ? | What are the signs and symptoms of Recurrent hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Recurrent hydatidiform mole. 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 Cataract and cardiomyopathy ? | What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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 is (are) Glucocorticoid-remediable aldosteronism ? | Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is i... | |
What are the symptoms of Glucocorticoid-remediable aldosteronism ? | What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Osteopetrosis autosomal dominant type 1 ? | 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 ... | |
What are the symptoms of Osteopetrosis autosomal dominant type 1 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. 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 Neurofibromatosis-Noonan syndrome ? | What are the signs and symptoms of Neurofibromatosis-Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What is (are) Mowat-Wilson syndrome ? | Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital a... | |
What are the symptoms of Mowat-Wilson syndrome ? | What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson 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 D... | |
What causes Mowat-Wilson syndrome ? | What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it at... | |
Is Mowat-Wilson syndrome inherited ? | How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproducti... | |
What are the symptoms of Quebec platelet disorder ? | What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. 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 are the symptoms of Thymic-Renal-Anal-Lung dysplasia ? | What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung 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... | |
What are the symptoms of Heart-hand syndrome, Slovenian type ? | What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of Glutamine deficiency, congenital ? | What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What is (are) Cat scratch disease ? | Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Ot... | |
What are the symptoms of Cat scratch disease ? | What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may exper... | |
What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ? | What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. If the information is available, the table below includes how often th... | |
What are the symptoms of Taurodontia absent teeth sparse hair ? | What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. 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 Bantu siderosis ? | What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. 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 is (are) Congenital radio-ulnar synostosis ? | Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it... | |
What are the symptoms of Congenital radio-ulnar synostosis ? | What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What causes Congenital radio-ulnar synostosis ? | What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be ... | |
Is Congenital radio-ulnar synostosis inherited ? | How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an... | |
What are the symptoms of Pituitary hormone deficiency, combined 4 ? | What are the signs and symptoms of Pituitary hormone deficiency, combined 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 4. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What is (are) Muscular dystrophy, congenital, merosin-positive ? | The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities ... | |
What are the symptoms of Muscular dystrophy, congenital, merosin-positive ? | What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with... | |
What is (are) Pterygium of the conjunctiva and cornea ? | Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on... | |
What are the symptoms of Pterygium of the conjunctiva and cornea ? | What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Myelomeningocele ? | Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This h... | |
What are the symptoms of Myelomeningocele ? | What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensatio... | |
What are the treatments for Myelomeningocele ? | How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help d... | |
What are the symptoms of Spinocerebellar ataxia 17 ? | What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. 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 Charcot-Marie-Tooth disease type 2K ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. 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) MYH7-related scapuloperoneal myopathy ? | MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. S... | |
What are the symptoms of MYH7-related scapuloperoneal myopathy ? | What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What causes MYH7-related scapuloperoneal myopathy ? | What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in typ... | |
What are the treatments for MYH7-related scapuloperoneal myopathy ? | How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. | |
What are the symptoms of Keratitis, hereditary ? | What are the signs and symptoms of Keratitis, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratitis, hereditary. 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 Familial hypocalciuric hypercalcemia type 3 ? | What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Rhabdoid tumor ? | Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In mos... | |
What are the symptoms of Rhabdoid tumor ? | What are the signs and symptoms of Rhabdoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. 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 is (are) BRCA1 hereditary breast and ovarian cancer syndrome ? | BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing con... | |
What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? | What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in peopl... | |
What is (are) CREST syndrome ? | CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST... | |
What are the symptoms of CREST syndrome ? | What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 causes CREST syndrome ? | What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of con... | |
How to diagnose CREST syndrome ? | How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupu... | |
What are the symptoms of Spinocerebellar ataxia 34 ? | What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. 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 Epidermolysis bullosa, late-onset localized junctional, with mental retardation ? | What are the signs and symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, late-onset localized junctional, with mental retardation. If the information is available, the tab... | |
What are the symptoms of Leucine-sensitive hypoglycemia of infancy ? | What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Menetrier disease ? | Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of ... | |
What are the symptoms of Menetrier disease ? | What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier di... | |
What causes Menetrier disease ? | What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming gr... | |
What are the treatments for Menetrier disease ? | What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally re... | |
What is (are) Hailey-Hailey disease ? | Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, swe... | |
What are the symptoms of Hailey-Hailey disease ? | What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey 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 D... | |
Is Hailey-Hailey disease inherited ? | How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an af... | |
How to diagnose Hailey-Hailey disease ? | Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in th... | |
What are the treatments for Hailey-Hailey disease ? | How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Suns... | |
What are the symptoms of Spastic paraplegia 26 ? | What are the signs and symptoms of Spastic paraplegia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 26. 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) Hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early i... | |
What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? | What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people ... | |
What is (are) Hereditary cerebral hemorrhage with amyloidosis ? | Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins). Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some p... | |
What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ? | What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs betwe... | |
What causes Hereditary cerebral hemorrhage with amyloidosis ? | What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptom... | |
Is Hereditary cerebral hemorrhage with amyloidosis inherited ? | Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical an... | |
What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ? | How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. Thi... | |
What are the symptoms of Leber congenital amaurosis 5 ? | What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. 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 Mesomelic dwarfism cleft palate camptodactyly ? | What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Thyrotropin deficiency, isolated ? | What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What are the symptoms of Progressive familial heart block type 1A ? | What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. 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 Brugada syndrome 4 ? | What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 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 MedlinePlus Medical Diction... | |
What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ? | What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. If the information is available, the table below includes how often the symp... | |
What is (are) Neurofibromatosis type 1 ? | Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly... | |
What are the symptoms of Neurofibromatosis type 1 ? | What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in... | |
What causes Neurofibromatosis type 1 ? | What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is ... | |
Is Neurofibromatosis type 1 inherited ? | How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of ca... | |
How to diagnose Neurofibromatosis type 1 ? | Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is ... | |
What are the treatments for Neurofibromatosis type 1 ? | How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irr... | |
What is (are) Pigmented villonodular synovitis ? | Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in ... |
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