Details of Disease

General Information of Disease (ID: DISH1JM2)

Disease Name Fanconi anemia complementation group V
Synonyms
Fanconi Anemia, complementation Group 5; Fanconi anemia, complementation GROUP V; MAD2L2 Fanconi anemia; Fanconi anaemia complementation group type V; Fanconi anemia complementation group type V; Fanconi anemia caused by mutation in MAD2L2; FANCV; Fanconi Anemia, complementation group V; Fanconi anaemia caused by mutation in MAD2L2; MAD2L2 Fanconi anaemia; Fanconi Anemia, complementation group type V
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISH1JM2: Fanconi anemia complementation group V
Disease Identifiers
MONDO ID
MONDO_0014985
UMLS CUI
C4310652
OMIM ID
617243
MedGen ID
934619

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
MAD2L2 OT24ZO59 Limited 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.