Details of Disease | DrugMAP

General Information of Disease (ID: DIS8DQXS)

Disease Name	Xeroderma pigmentosum group C
Synonyms	xeroderma pigmentosum 3; xeroderma pigmentosum, type 3; XP, Group C; xeroderma pigmentosum, complementation group C; xeroderma pigmentosum group C; xeroderma pigmentosum group type C; XP group C; XPCC; XPC; XP-C; xeroderma pigmentosum, group C; XP3; xeroderma pigmentosum, complementation group type C; xeroderma pigmentosum III
Definition	An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
Disease Hierarchy	DISQ9H19: Xeroderma pigmentosum DIS8DQXS: Xeroderma pigmentosum group C
Disease Identifiers	MONDO ID MONDO_0010211 MESH ID C567886 UMLS CUI C2752147 OMIM ID 278720 MedGen ID 416702 SNOMED CT ID 25784009

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
XPC	OTB09PXO	Definitive	Autosomal recessive	[1]
POLH	OTN07WXU	Strong	Genetic Variation	[4]
RAD23B	OT0PGOG3	Strong	Biomarker	[5]
CETN2	OTJTTGS0	Definitive	Biomarker	[6]
CHD1	OT9R9G0H	Definitive	Biomarker	[7]
MPG	OTAHW80B	Definitive	Altered Expression	[8]
RECQL	OTPCH3JH	Definitive	Biomarker	[9]
RREB1	OT62460U	Definitive	Biomarker	[10]
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⏷ Show the Full List of 8 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TIE1	TTT4236	Strong	Biomarker	[2]
CSNK2A1	TTER6YH	Definitive	Biomarker	[3]
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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.
2	Tyrosine kinase receptor TIE-1 mediates platinum resistance by promoting nucleotide excision repair in ovarian cancer.Sci Rep. 2018 Sep 4;8(1):13207. doi: 10.1038/s41598-018-31069-2.
3	Expression of the cDNA for the beta subunit of human casein kinase II confers partial UV resistance on xeroderma pigmentosum cells.Mutat Res. 1990 Jul;236(1):85-97. doi: 10.1016/0921-8777(90)90036-5.
4	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.
5	PolyQ-expanded huntingtin and ataxin-3 sequester ubiquitin adaptors hHR23B and UBQLN2 into aggregates via conjugated ubiquitin.FASEB J. 2018 Jun;32(6):2923-2933. doi: 10.1096/fj.201700801RR. Epub 2018 Jan 11.
6	Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein.Mol Cell Biol. 2005 Jul;25(13):5664-74. doi: 10.1128/MCB.25.13.5664-5674.2005.
7	Chromatin remodeler CHD1 promotes XPC-to-TFIIH handover of nucleosomal UV lesions in nucleotide excision repair.EMBO J. 2017 Nov 15;36(22):3372-3386. doi: 10.15252/embj.201695742. Epub 2017 Oct 10.
8	17-(Allylamino)-17-Demethoxygeldanamycin Enhances Etoposide-Induced Cytotoxicity via the Downregulation of Xeroderma Pigmentosum Complementation Group C Expression in Human Lung Squamous Cell Carcinoma Cells.Pharmacology. 2018;102(1-2):91-104. doi: 10.1159/000490256. Epub 2018 Jun 28.
9	Characterization of the properties of a human homologue of Escherichia coli RecQ from xeroderma pigmentosum group C and from HeLa cells.Cell Struct Funct. 1996 Apr;21(2):123-32. doi: 10.1247/csf.21.123.
10	The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair.Methods Enzymol. 2006;408:171-88. doi: 10.1016/S0076-6879(06)08011-6.