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;
Origin ID : 208900;
UMLS CUI : C0004135;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)