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ataxia telangiectasia

Disease Summary
Associated Targets (2)
Tchem

1

Tdark

1


GARD Rare
Mondo Description Ataxia-telangiectasia is 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 a higher risk of cancer.
Uniprot Description A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
Mondo Term and Equivalent IDs
MONDO:0008840:  ataxia telangiectasia
GARD:0005862: 
MESH:D001260: 
NCIT:C2887: 
Orphanet:100: 
SCTID:68504005: 
UMLS:C0004135: