Ataxia telangiectasia

rare

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

Identifiers: MONDO:0008840 OMIM:208900 Orphanet:100
Causal genes: ATM
Part of: Combined immunodeficiency Hereditary cerebellar ataxia Inherited primary ovarian failure
Also known as: AT · AT1 · ataxia - telangiectasia · ataxia telangiectasia syndrome · cerebello-oculocutaneous telangiectasia

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Ataxia-telangiectasia with generalized skin pigmentation and early death	MONDO:0008841

Projects

Including projects on subtypes.

No projects yet.