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Fanconi anemia complementation group T

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.
Uniprot Description A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Disease Ontology Description A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.
Mondo Term and Equivalent IDs
MONDO:0014638:  Fanconi anemia complementation group T
UMLS:C4084840: