| mRNA IDs | Primary Information | |
| NM_000051.3,NM_138292.3 | Gene Symbol | ATM |
| Protein Name | Ataxia telangiectasia mutated | |
| Alternate Names | AT1, ATA, ATC, ATD, ATDC, ATE, DKFZp781A0353, MGC74674, TEL1, TELO1 | |
| Gene Locus | 11q22-q23 | |
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| Disease name | Characteristic / Associated features | Category | inheritance type |
| Ataxia-telangiectasia | Short stature; Sinusitis; Conjunctival telangiectasia; Fixation of gaze nystagmus; Strabismus; Bronchitis; Bronchiectasis; Hypogonadism; Impaired spermatogenesis; Telangiectases; Cafe-au-lait spots; Progeric skin changes; Sclerodermatous skin changes; Progeric hair changes; Cerebellar cortical degeneration; Cerebellar ataxia; Weak or absent deep tendon reflexes; Dysarthric speech; Choreoathetosis; Seizures; Oculomotor abnormalities; Delayed puberty; Diabetes mellitus; Glucose intolerance; Thymus hypoplasia; Normal numbers of B cells; Defective B cell differentiation; lymphopenia; Reduced numbers of T cells; Reduced CD4+ T cells; Increased levels of T cells bearing gamma/delta antigen receptor; Reduced levels of cells with IgM receptors; Non-Hodgkin lymphoma; Leukemia; Hodgkins lymphoma; Increased risk in heterozygotes; Elevated alpha-fetoprotein; Increased levels of carcinoembryonic antigen; Reduced iga levels; Reduced IgE levels; Reduced IgG levels, particularly the IgG2 subclass; Monomeric IgM; Immunoglobulin antibodies present; CD4+/CD8+ ratio is reversed; Hypersensitivity to ionizing radiation; Oculomotor apraxia; Chromosomal instability; Absent thymic shadow on chest X-ray; Ovarian dysgenesis; X-ray sensitivity | Other Well-defined Immunodeficiency Syndromes | Autosomal recessive |