Details of Disease

General Information of Disease (ID: DISSOVEA)

Disease Name Fanconi anemia complementation group U
Synonyms
Fanconi anemia, complementation GROUP U; FANCU; Fanconi anemia caused by mutation in XRCC2; Fanconi anemia complementation group type U; Fanconi Anemia, complementation group type U; XRCC2 Fanconi anemia; Fanconi anaemia complementation group type U; XRCC2 Fanconi anaemia; Fanconi Anemia, complementation group U; Fanconi anaemia caused by mutation in XRCC2
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISSOVEA: Fanconi anemia complementation group U
Disease Identifiers
MONDO ID
MONDO_0014987
UMLS CUI
C4310651
OMIM ID
617247
MedGen ID
934618

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
XRCC2 OTJB2PV4 Moderate Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.