Details of Disease

General Information of Disease (ID: DIS8VX8C)

Disease Name Fanconi anemia complementation group O
Synonyms
Fanconi anemia, complementation group O; Fanconi Anemia, complementation group type O; Rad51C Fanconi anemia; Fanconi anemia complementation group type O; Fanconi anaemia caused by mutation in Rad51C; RAD51C Fanconi anaemia; Fanconi anaemia caused by mutation in RAD51C; Fanconi anaemia complementation group type O; Rad51C Fanconi anaemia; RAD51C Fanconi anemia; Fanconi anemia caused by mutation in RAD51C; FANCO; Fanconi anemia caused by mutation in Rad51C
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DIS8VX8C: Fanconi anemia complementation group O
Disease Identifiers
MONDO ID
MONDO_0013248
UMLS CUI
C3150653
OMIM ID
613390
MedGen ID
462003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAD51C OTUD6SY5 Strong Autosomal recessive [1]
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References

1 Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18.