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ataxia-telangiectasia-like disorder 1

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.
Uniprot Description A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.
Mondo Term and Equivalent IDs
MONDO:0024557:  ataxia-telangiectasia-like disorder 1
NCIT:C132224: 
Orphanet:251347: 
UMLS:C1858391: