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Aliases & Descriptions for Ataxia-Telangiectasia:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Blood diseases, Immune diseases
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult
Genetics Home Reference:23 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.
MalaCards based summary: Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder and nijmegen breakage syndrome, and has symptoms including polycystic ovaries, strabismus and nystagmus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways are miRNA Regulation of DNA Damage Response and PLK3 signaling events. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are adipose tissue and embryogenesis.
NIH Rare Diseases:45 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. last updated: 5/25/2011
OMIM:49 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases,... (208900) more...
MedlinePlus:35 Ataxia-telangiectasia (at) is a rare, inherited disease. it affects the nervous system, immune system, and other body systems. symptoms appear in young children, usually before age 5. they 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 cancers, 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. they include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamin therapy. nih: national institute of neurological disorders and stroke
NINDS:46 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.
UniProtKB/Swiss-Prot:67 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
Wikipedia:68 Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome ) is a rare, neurodegenerative,... more...
GeneReviews summary for ataxia-telangiectas
Symptoms by clinical synopsis from OMIM:208900
Clinical features from OMIM:208900
Symptoms:51 (show all 39)
HPO human phenotypes related to Ataxia-Telangiectasia:(show all 62)
Drugs for Ataxia-Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 46)
Interventional clinical trials:(show all 22)
Search NIH Clinical Center for Ataxia-Telangiectasia
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
MalaCards organs/tissues related to Ataxia-Telangiectasia:33
Eye, Skin, Brain, Lung, Breast, T cells, B cells
MGI Mouse Phenotypes related to Ataxia-Telangiectasia:38 (show all 21)
Articles related to Ataxia-Telangiectasia:(show top 50) (show all 788)
UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia:67 (show all 39)
Clinvar genetic disease variations for Ataxia-Telangiectasia:5 (show all 79)
Search GEO for disease gene expression data for Ataxia-Telangiectasia.
Pathways related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:(show all 45)
Cellular components related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:(show top 50) (show all 51)
Molecular functions related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:(show all 15)
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet