You are using an outdated browser. Please upgrade your browser to improve your experience.

Fanconi anemia complementation group J

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
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.
Mondo Term and Equivalent IDs
MONDO:0012187:  Fanconi anemia complementation group J
MESH:C563801: 
NCIT:C129027: 
UMLS:C1836860: