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Fanconi anemia, complementation group C (FANCC)

Defects in FANCC 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. 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): FANCONI PANCYTOPENIA, TYPE 3

ABREVIATION(S):
FANCC
FACC
FAC
FA3

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: FANCC

OMIM: 227645

Last modification date: Aug. 21, 2011