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Fanconi anemia, complementation group A (FANCA)

Defects in FANCA are a cause of Fanconi anemia (FA) [MIM:227650].
FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. This disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.

OTHER NAME(S): FANCA GENE

ABREVIATION(S):
FANCA
FA-A
FACA
FAA

TYPE: skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: FANCA

OMIM: 227650

Last modification date: Aug. 24, 2011