Details of Disease

General Information of Disease (ID: DISXP307)

Disease Name Fanconi anemia complementation group R
Synonyms
Fanconi anemia, complementation GROUP R; Fanconi Anemia, complementation group type R; Fanconi anaemia caused by mutation in RAD51; Fanconi anaemia complementation group type R; Fanconi anemia complementation group type R; FANCR; Fanconi anemia caused by mutation in RAD51; RAD51 Fanconi anemia; Fanconi Anemia, complementation group R; RAD51 Fanconi anaemia
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISXP307: Fanconi anemia complementation group R
Disease Identifiers
MONDO ID
MONDO_0014986
UMLS CUI
C4284093
OMIM ID
617244
MedGen ID
924579

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAD51 TTC0G1L Strong Autosomal dominant [1]
RAD51 TTC0G1L Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAD51 OTNVWGC1 Strong Autosomal dominant [1]
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References

1 A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Mol Cell. 2015 Aug 6;59(3):478-90. doi: 10.1016/j.molcel.2015.07.009.
2 FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5'-DNA end.Nucleic Acids Res. 2016 Dec 15;44(22):10758-10771. doi: 10.1093/nar/gkw876. Epub 2016 Sep 30.