Disease - Fanconi anemia, complementation group A
- DefinitionA 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.
- AcronymFANCA
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Browse 1 entry- Fanconi anemia group A protein · Gene: FANCA (FAA, FACA, FANCH) · Homo sapiens (Human) · 1455 amino acids · Evidence at protein level · Annotation score: 5/5