Catalog
Ataxia-telangiectasia
No MMS code
Link to WHO Definition
Ataxia-telangiectasia – http://id.who.int/icd/entity/2129036552
Ataxia-Telangiectasia (A-T) is a DNA repair disorder defined by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and increased risk of cancer.
Parents
- Autosomal recessive ataxia
- Genetic syndromes affecting cutaneous vasculature
- 4A01.31 DNA repair defects other than combined T-cell or B-cell immunodeficiencies
- LD2B Syndromes with premature ageing appearance as a major feature
- DNA instability syndromes affecting the skin
- Congenital ocular motor apraxia associated with other neurological signs
- Inherited cancer-predisposing syndromes