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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C132224
OMIM:604391
Orphanet:251347
UMLS:C1858391
MONDO:0024557
High level summary of knowledge for a disease, including descriptions and datasource references.