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Fanconi anemia complementation group C

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
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 homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.
Mondo Term and Equivalent IDs
MONDO:0009213:  Fanconi anemia complementation group C
NCIT:C125704: 
UMLS:C3468041: