Details of Disease

General Information of Disease (ID: DIS4PV33)

Disease Name Xeroderma pigmentosum group G
Synonyms
xeroderma pigmentosum, complementation group G; xeroderma pigmentosum, type G/Cockayne syndrome; XP, Group G; xeroderma pigmentosum complementation group G; xeroderma pigmentosum 7; xeroderma pigmentosum type 7; XP-G; xeroderma pigmentosum caused by mutation in ERCC5; xeroderma pigmentosum, group G; xeroderma pigmentosum group G; xeroderma pigmentosum group type G; xeroderma pigmentosum, complementation group type G; xeroderma pigmentosum VII; xeroderma pigmentosum, group G/Cockayne syndrome; XPG; ERCC5 xeroderma pigmentosum; XP7; XP group G
Definition Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.|placement based on OMIM phenotypic series 214150.
Disease Hierarchy
DISTEABI: COFS syndrome
DISJ0QRY: Xeroderma pigmentosum-Cockayne syndrome complex
DISQ9H19: Xeroderma pigmentosum
DIS4PV33: Xeroderma pigmentosum group G
Disease Identifiers
MONDO ID
MONDO_0010216
MESH ID
C562593
UMLS CUI
C0268141
OMIM ID
278780
MedGen ID
75657
SNOMED CT ID
36454001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC4 OTFIOPG1 Disputed Biomarker [1]
FEN1 OT6QGG7O Disputed Biomarker [2]
POLH OTN07WXU Strong Genetic Variation [3]
ARID2 OTIRJXWM Definitive Biomarker [4]
ERCC5 OTQAKFJM Definitive Autosomal recessive [5]
GTF2H2 OTK72L9I Definitive Biomarker [6]
GTF2H3 OT87W5QJ Definitive Biomarker [6]
GTF2H5 OTRL219S Definitive Biomarker [6]
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⏷ Show the Full List of 8 DOT(s)

References

1 Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.Oncotarget. 2017 Dec 8;9(1):1012-1027. doi: 10.18632/oncotarget.23105. eCollection 2018 Jan 2.
2 An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum.Mutat Res. 1994 Mar;314(2):167-75. doi: 10.1016/0921-8777(94)90080-9.
3 Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Br J Dermatol. 2015 Apr;172(4):1096-102. doi: 10.1111/bjd.13429. Epub 2015 Feb 27.
4 ARID2 modulates DNA damage response in human hepatocellular carcinoma cells.J Hepatol. 2017 May;66(5):942-951. doi: 10.1016/j.jhep.2016.12.026. Epub 2017 Feb 24.
5 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.
6 Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome.Mol Cell Biol. 2015 Sep;35(18):3178-88. doi: 10.1128/MCB.01401-14. Epub 2015 Jul 6.