Details of Disease

General Information of Disease (ID: DISKMU3D)

Disease Name Fanconi anemia complementation group C
Synonyms
facc; Fanconi anemia, complementation group C; Fanconi pancytopenia, type 3; Fanconi anemia complementation group C; FANCC; FACC; Fanconi pancytopenia type 3; FA3; Fanconi anemia complementation group type C; Fanconi anaemia complementation group type C; Fanconi Anemia, complementation group type C
Definition
Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISKMU3D: Fanconi anemia complementation group C
Disease Identifiers
MONDO ID
MONDO_0009213
UMLS CUI
C3468041
OMIM ID
227645
MedGen ID
483324
SNOMED CT ID
1285021005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FANCI OTW8E3SC Strong Biomarker [1]
GABRG1 OT1NGUYY Strong Biomarker [2]
FANCC OTTIDM3P Definitive Autosomal recessive [3]
------------------------------------------------------------------------------------

References

1 Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia.Nat Commun. 2017 Nov 1;8(1):1238. doi: 10.1038/s41467-017-01439-x.
2 Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex.J Biol Chem. 1995 Apr 28;270(17):9876-82. doi: 10.1074/jbc.270.17.9876.
3 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.