Details of Disease

General Information of Disease (ID: DIS65STL)

Disease Name Fanconi anemia complementation group E
Synonyms
Fanconi anemia, complementation group E; Fanconi anaemia complementation group type E; Fanconi anemia complementation group E; Fanconi anaemia caused by mutation in FANCE; Fanconi Anemia, complementation group type E; face; Fanconi anemia caused by mutation in FANCE; FANCE; FANCE Fanconi anemia; FANCE Fanconi anaemia; Fanconi anemia complementation group type E
Definition
Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DIS65STL: Fanconi anemia complementation group E
Disease Identifiers
MONDO ID
MONDO_0010953
UMLS CUI
C3160739
OMIM ID
600901
MedGen ID
463628

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
FANCE OTKRPBW1 Definitive Autosomal recessive [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.