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Fanconi anemia complementation group B
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
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. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
Mondo Term and Equivalent IDs
MONDO:0010351: Fanconi anemia complementation group B