Please note: Any medical or genetic information present in this entry is not intended as a diagnosis of your problem, but rather is provided as a helpful guide for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Information is not necessarily complete. Please see your doctor for diagnosis and treatment.

Please note: DNAtraffic database is the project under construction and information on this page is not finished yet.

Fanconi anemia, complementation group I (FANCI)

Fanconi anemia complementation group I (FANCI) is caused by homozygous or compound heterozygous mutation in the FANCI gene (611360) on chromosome 15q.
It is 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.

ABREVIATION(S):
FANCI

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: FANCI

OMIM: 609053

Last modification date: Aug. 24, 2011