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AT
MCID: ATX002
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Ataxia Telangiectasia malady |
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189 genes, 10 tissues, 2207 related diseases, 28 phenotypes, 335 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 23MedlinePlus, 31NINDS, 15GeneReviews, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls
motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during
the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the
surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear
in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia
or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. 31
MalaCards: Ataxia Telangiectasia, also known as ataxia-telangiectasia, is related to breast cancer and nijmegen breakage syndrome. An important gene associated with Ataxia Telangiectasia is ATM (ataxia telangiectasia mutated), and among its related pathways are DNA Damage and BRCA1 Pathway. The compounds bleomycin and caffeine have been mentioned in the context of this disorder. Affiliated tissues include brain, colon and lung, and related mouse phenotypes are respiratory system and liver/biliary system. NIH Rare Diseases: Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech. The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer. Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern. There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.30 MedlinePlus: Ataxia-telangiectasia (at) is a rare, inherited disease that affects the nervous system, immune system and other body systems. symptoms appear in young children and include ataxia - trouble coordinating movements poor balance slurred speech tiny, red spider veins, called telangiectasias, on the skin and eyes lung infections delayed physical and sexual development people with at have an increased risk of developing diabetes and cancer, particularly lymphoma and leukemia. although it affects the brain, people with at usually have normal or above normal intelligence. at has no cure. treatments might improve some symptoms. options include injections to strengthen the immune system, physical and speech therapy and high-dose vitamin therapy. people with at usually die in their teens or early twenties. nih: national institute of neurological disorders and stroke23 Genetics Home Reference: Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.17 Wikipedia: Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative,...44 more... OMIM: 208900 GeneReviews summary for ataxia-telangiectas |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 43UMLS, 24MeSH, 27NCIt, 40SNOMED-CT See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 208900
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for ataxia telangiectasia Drug clinical trials:Search ClinicalTrials for ataxia telangiectasia Search NIH Clinical Center for ataxia telangiectasia Search CenterWatch for ataxia telangiectasia |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to ataxia telangiectasia:22Brain, Colon, Lung, Breast, Skin, Prostate, T cells, B lymphoblasts, B cells, Endothelial
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to ataxia telangiectasia:25 (show all 28)
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Sources: 35PubMed See all sources |
Articles related to ataxia telangiectasia:(show top 50) (show all 335)
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Sources: 1BioGPS See all sources |
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Sources: 3Cell Signaling Technology, 36QIAGEN, 10EMD Millipore, 41Thomson Reuters, 20KEGG, 37R&D Systems See all sources |
Pathways related to ataxia telangiectasia according to GeneDecks:(show top 50) (show all 345)
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Sources: 32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to ataxia telangiectasia according to GeneDecks:(show top 50) (show all 398)
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Sources: 12Gene Ontology See all sources |
Cellular components related to ataxia telangiectasia according to GeneDecks:(show all 17)
Biological processes related to ataxia telangiectasia according to GeneDecks:(show top 50) (show all 123)
Molecular functions related to ataxia telangiectasia according to GeneDecks:(show all 25)
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