Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|
What are the symptoms of Pearson syndrome ? | What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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 ... |
What are the symptoms of Renal dysplasia diffuse cystic ? | What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. 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 are the symptoms of De Sanctis-Cacchione syndrome ? | What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione 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 Chylomicron retention disease ? | What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention 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 Medli... |
What are the symptoms of Striatonigral degeneration infantile ? | What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. 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 Neuropathy, hereditary motor and sensory, Okinawa type ? | What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa type. If the information is available, the table below includes how often the symptom is seen in... |
What are the symptoms of Congenital ectodermal dysplasia with hearing loss ? | What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people wi... |
What are the symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias ? | What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. If the information is available, the table below includes how often the symptom is seen ... |
What is (are) Acromesomelic dysplasia ? | Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands an... |
What are the symptoms of Acromesomelic dysplasia ? | What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively en... |
What are the symptoms of Spondyloepimetaphyseal dysplasia X-linked ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What are the symptoms of Perry syndrome ? | What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry 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 is (are) Hypotrichosis simplex ? | Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the s... |
What are the symptoms of Hypotrichosis simplex ? | What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. 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 Hypotrichosis simplex ? | Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may... |
What are the symptoms of Chiari malformation type 3 ? | What are the signs and symptoms of Chiari malformation type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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... |
What is (are) Littoral cell angioma of the spleen ? | Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, i... |
What are the symptoms of Osteogenesis imperfecta Levin type ? | What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What is (are) Multisystemic smooth muscle dysfunction syndrome ? | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the... |
What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ? | What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems W... |
What are the symptoms of Facial ectodermal dysplasia ? | What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Dystonia 8 ? | Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no k... |
What are the symptoms of Dystonia 8 ? | What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 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 Dictionary to look up t... |
What causes Dystonia 8 ? | Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions out... |
What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? | What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. If the information is availabl... |
What is (are) Pityriasis rubra pilaris ? | Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, b... |
What are the symptoms of Pityriasis rubra pilaris ? | What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of t... |
What causes Pityriasis rubra pilaris ? | What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins th... |
What are the treatments for Pityriasis rubra pilaris ? | How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration... |
What are the symptoms of Progeroid syndrome Petty type ? | What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What are the symptoms of Macrocephaly-capillary malformation ? | What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. 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) Inflammatory linear verrucous epidermal nevus ? | Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to ear... |
What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods,... |
What are the symptoms of 21-hydroxylase deficiency ? | What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype ... |
What causes 21-hydroxylase deficiency ? | What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2). |
Is 21-hydroxylase deficiency inherited ? | How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent cha... |
How to diagnose 21-hydroxylase deficiency ? | Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of labora... |
What are the treatments for 21-hydroxylase deficiency ? | What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine ana... |
What are the symptoms of Alopecia intellectual disability syndrome 2 ? | What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Chiari malformation type 1 ? | Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem.... |
What are the symptoms of Chiari malformation type 1 ? | What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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... |
What causes Chiari malformation type 1 ? | What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins... |
What are the treatments for Chiari malformation type 1 ? | How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medication... |
What are the symptoms of Patterned dystrophy of retinal pigment epithelium ? | What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people wi... |
What is (are) Adiposis dolorosa ? | Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but... |
What are the symptoms of Adiposis dolorosa ? | What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or... |
What causes Adiposis dolorosa ? | What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers ha... |
Is Adiposis dolorosa inherited ? | Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited... |
How to diagnose Adiposis dolorosa ? | Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of ad... |
What are the treatments for Adiposis dolorosa ? | How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no dr... |
What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachyca... |
What are the symptoms of Wolff-Parkinson-White syndrome ? | What are the signs and symptoms of Wolff-Parkinson-White syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolff-Parkinson-White 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 Med... |
What causes Wolff-Parkinson-White syndrome ? | What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, o... |
Is Wolff-Parkinson-White syndrome inherited ? | Is Wolff-Parkinson-White syndrome inherited? |
What is (are) Kimura disease ? | Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck. These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response. |
What are the treatments for Kimura disease ? | How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely resul... |
What are the symptoms of Microphthalmia syndromic 7 ? | What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. 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) Reynolds syndrome ? | Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodacty... |
What are the symptoms of Reynolds syndrome ? | What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
What are the symptoms of Lipodystrophy, familial partial, type 2 ? | What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. 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 Lissencephaly X-linked ? | What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 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 MedlinePlus Medical... |
What is (are) Prinzmetal's variant angina ? | Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold... |
What are the symptoms of Prinzmetal's variant angina ? | What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, o... |
What causes Prinzmetal's variant angina ? | What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood fl... |
What are the treatments for Prinzmetal's variant angina ? | What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve ... |
What are the symptoms of Glaucoma 3 primary infantile B ? | What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. 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 are the symptoms of Mucopolysaccharidosis type VII ? | What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. 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) Fibrous dysplasia ? | Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in... |
What are the symptoms of Fibrous dysplasia ? | What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bo... |
What causes Fibrous dysplasia ? | What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of ... |
What are the treatments for Fibrous dysplasia ? | How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones ... |
What is (are) Dendritic cell tumor ? | A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, ... |
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 is (are) Ehlers-Danlos syndrome, kyphoscoliosis type ? | Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyph... |
What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial disl... |
What causes Ehlers-Danlos syndrome, kyphoscoliosis type ? | What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides s... |
Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ? | Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one... |
How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ? | How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficie... |
What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? | How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor d... |
What are the symptoms of Papillary thyroid carcinoma ? | What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid 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 MedlinePl... |
What is (are) Aicardi-Goutieres syndrome type 3 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... |
What are the symptoms of Aicardi-Goutieres syndrome type 3 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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 t... |
What is (are) Dystrophic epidermolysis bullosa ? | Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfi... |
What are the symptoms of Dystrophic epidermolysis bullosa ? | What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. 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 Nodular regenerative hyperplasia ? | What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. 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) Succinic semialdehyde dehydrogenase deficiency ? | Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); h... |
What are the symptoms of Succinic semialdehyde dehydrogenase deficiency ? | What are the signs and symptoms of Succinic semialdehyde dehydrogenase deficiency? People with succinic semialdehyde dehydrogenase deficiency (SSADH) typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half o... |
What causes Succinic semialdehyde dehydrogenase deficiency ? | What causes succinic semialdehyde dehydrogenase deficiency? Succinic semialdehyde dehydrogenase deficiency (SSADH) is caused by mutations in the ALDH5A1 gene. This gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme which is involved in the breakdown of a chemical that transmits sign... |
Is Succinic semialdehyde dehydrogenase deficiency inherited ? | How is succinic semialdehyde dehydrogenase deficiency inherited? Succinic semialdehyde dehydrogenase deficiency (SSADH) 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 ... |
How to diagnose Succinic semialdehyde dehydrogenase deficiency ? | How is succinic semialdehyde dehydrogenase deficiency diagnosed? The diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency is based upon a thorough clinical exam, the identification of features consistent with the condition, and a variety of specialized tests. SSADH deficiency may first be suspected in la... |
What are the treatments for Succinic semialdehyde dehydrogenase deficiency ? | How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating t... |
What are the symptoms of X-linked lymphoproliferative syndrome 2 ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Laryngeal cleft ? | A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the e... |
What are the symptoms of Laryngeal cleft ? | What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft. Swallowing problems, a husky cry and feeding difficulties are common. Feeding often causes... |
What causes Laryngeal cleft ? | What causes laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus... |
What are the treatments for Laryngeal cleft ? | How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. Du... |
What is (are) Birt-Hogg-Dube syndrome ? | Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occ... |
What are the symptoms of Birt-Hogg-Dube syndrome ? | What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube 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 Medic... |
What are the treatments for Birt-Hogg-Dube syndrome ? | How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended man... |
What is (are) Buerger disease ? | Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or o... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.