Details of Disease

General Information of Disease (ID: DISC76W3)

Disease Name Fanconi anemia complementation group D2
Synonyms
Fanconi anemia, complementation group D2; Fanconi pancytopenia, type 4; Fanconi Anemia, complementation group D; Fad2; FA4; FANCD2; Fanconi pancytopenia type 4; FAD2; Fanconi anemia complementation group D2
Definition Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISC76W3: Fanconi anemia complementation group D2
Disease Identifiers
MONDO ID
MONDO_0009214
UMLS CUI
C3160738
OMIM ID
227646
MedGen ID
463627

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
USP1 TTG9MT5 moderate Altered Expression [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FANCI OTW8E3SC Limited Biomarker [2]
NTHL1 OTPQXPT1 moderate Biomarker [3]
REV3L OT0OP8EJ moderate Biomarker [4]
FANCL OTJC7QPQ Strong Altered Expression [5]
RPA2 OTZ54WAF Strong Biomarker [6]
FANCD2 OTVEB5LF Definitive Autosomal recessive [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 Inactivation of Uaf1 causes defective homologous recombination and early embryonic lethality in mice.Mol Cell Biol. 2013 Nov;33(22):4360-70. doi: 10.1128/MCB.00870-13. Epub 2013 Sep 3.
2 Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination.Cell Rep. 2019 Jan 15;26(3):564-572.e5. doi: 10.1016/j.celrep.2018.12.084.
3 Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans.Nucleic Acids Res. 2017 Sep 19;45(16):9467-9480. doi: 10.1093/nar/gkx660.
4 Rev3, the catalytic subunit of Pol, is required for maintaining fragile site stability in human cells.Nucleic Acids Res. 2013 Feb 1;41(4):2328-39. doi: 10.1093/nar/gks1442. Epub 2013 Jan 8.
5 Constitutive role of the Fanconi anemia D2 gene in the replication stress response.J Biol Chem. 2017 Dec 8;292(49):20184-20195. doi: 10.1074/jbc.M117.814780. Epub 2017 Oct 11.
6 The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability.Hum Mol Genet. 2005 Mar 1;14(5):693-701. doi: 10.1093/hmg/ddi065. Epub 2005 Jan 20.
7 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.