Ataxia-telangiectasia

Preferred Label : Ataxia-telangiectasia;

Symbol : AT;

CISMeF acronym : ATA; ATC; ATD; ATE; AT; AT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Louis-bar syndrome; AT1;

Included titles and symbols : At, complementation group a; At, complementation group e; At, complementation group D; At, Complementation group C; Ataxia-telangiectasia variant; ATA; ATC; ATD; ATE;

Description : Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ataxia-telangiectasia mutated gene (ATM, 607585.0001);

Neoplasia : Non-Hodgkin lymphoma; Leukemia; Hodgkin lymphoma; Increased risk in heterozygotes;

Laboratory abnormalities : Increased levels of alpha fetoprotein; Increased levels of carcinoembryonic antigen; CD4 /CD8 ratio is reversed; Monomeric IgM; Reduced IgA levels; Reduced IgG levels, particularly the IgG2 subclass; Immunoglobulin antibodies present; Reduced IgE levels;

Prefixed ID : #208900;

Détails

Origin ID

208900;

UMLS CUI

C0004135;

Automatic exact mappings (from CISMeF team)
- AGTR1 wt Allele [NCIt concept]
- AT protocol [MeSH Supplementary Concept]
- ATA protocol [MeSH Supplementary Concept]
- ATM wt Allele [NCIt concept]
- Amitrole [NCIt concept]
- Anatomical Therapeutic Chemical Classification System [NCIt concept]
- Anti-Drug Antibody [NCIt concept]
- Anti-Thymocyte Globulin [NCIt concept]
- Arrested labor (finding) [SNOMED CT concept]
- At - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- At increased risk for noncompliance (finding) [SNOMED CT concept]
- Ataxia-Telangiectasia variant [MeSH concept]
- BTK wt Allele [NCIt concept]
- COL4A5 wt Allele [NCIt concept]
- Nijmegen breakage syndrome [DO Concept]
- Thyroid Gland Anaplastic Carcinoma [NCIt concept]
- Timonacic [NCIt concept]
- Type-1 Angiotensin II Receptor [NCIt concept]
- accidents, occupational [MeSH Descriptor]
- angioplasty, balloon, coronary [MeSH Descriptor]
- angiotensin II receptor type 1 [ORDO Gene]
- angiotensin i [MeSH Descriptor]
- antidepressive agents, tricyclic [MeSH Descriptor]
- antithrombins [MeSH Descriptor]
- jeune syndrome [MeSH Supplementary Concept]
- sick leave [MeSH Descriptor]
- solute carrier family 33 member 1 [ORDO Gene]
- thiazolidine-4-carboxylic acid [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
- ataxia telangiectasia [Radlex concept]
- ataxia-telangiectasia syndrome [SNOMED Notion]
DO Cross reference
- ataxia telangiectasia [DO Concept]
False automatic mappings
- Antarctica [NCIt concept]
- Austria [NCIt concept]
Genes related to phenotype
- Atm serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal spermatogenesis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Cafe-au-lait spot [HPO term]
- Choreoathetosis [HPO term]
- Conjunctival telangiectasia [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Defective B cell differentiation [HPO term]
- Delayed puberty [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Female hypogonadism [HPO term]
- Glucose intolerance [HPO term]
- Hodgkin lymphoma [HPO term]
- Hypoplasia of the thymus [HPO term]
- Leukemia [HPO term]
- Lymphoma [HPO term]
- Lymphopenia [HPO term]
- Myoclonus [HPO term]
- Non-Hodgkin lymphoma [HPO term]
- Nystagmus [HPO term]
- Oculomotor abnormalities [HPO term]
- Recurrent bronchitis [HPO term]
- Reduced tendon reflexes [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sinusitis [HPO term]
- Strabismus [HPO term]
- T lymphocytopenia [HPO term]
- Tremor [HPO term]
- obsolete Glucose intolerance [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
ORDO concept(s)
- Ataxia-telangiectasia [ORDO Disease]
See also inter- (CISMeF)
- Ataxia-Telangiectasia variant [MeSH Supplementary Concept]
- Ataxia-telangiectasia variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [MeSH Descriptor]
- ataxia telangiectasia [MeSH concept]
- ataxia telangiectasia [Radlex concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia-telangiectasia syndrome [SNOMED Notion]

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