Details of Disease

General Information of Disease (ID: DIS78XCX)

Disease Name Fanconi anemia complementation group B
Synonyms
Fanconi pancytopenia, type 2; Fanconi anemia, complementation group B; Fanconi pancytopenia type 2; FANCB; Fanconi anemia, complementation group B, X-linked recessive; Fanconi anemia complementation group B; Fanconi anaemia complementation group type B; Fanconi Anemia, complementation group type B; FACB; FA2; Fanconi anemia complementation group type B
Definition Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DIS78XCX: Fanconi anemia complementation group B
Disease Identifiers
MONDO ID
MONDO_0010351
MESH ID
C564497
UMLS CUI
C1845292
OMIM ID
300514
MedGen ID
336901

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
FANCB OTMZTXB5 Definitive X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.