Ataxia-telengiectasia

Defects in ATM are the cause of ataxia talangiectasia, which includes four complementation groups: A, C, D and E. A-T is, complex, multysystem disorder.

Alternative names

AT

AT1

Louis-Bar syndrome

Ataxia-telangiectasia (A-T) mutated

Classification

  • DNA breakage associated syndromes and DNA epigenetic modification syndromes
    • DNA-breakage-associated syndromes

Inheritance

Autosomal recessive

OMIM

#208900 Ataxia-telangiectasia; AT

*607585 Ataxia-telangiectasia; AT

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Nijmegen-breakage syndrome

IDR factfile for Bloom syndrome

Incidence

1: 100000 births.