Details of Disease

Disease Name

Xeroderma pigmentosum group D

XP4 xeroderma pigmentosum VIII; XP, Group D; XP, Group H; XP4 xeroderma pigmentosum VIII, formerly; xeroderma pigmentosum, complementation group D; XP, Group H, formerly; xeroderma pigmentosum 4; xeroderma pigmentosum IV; XP8; xeroderma pigmentosum VIII; XP4; XP-D; ERCC2 xeroderma pigmentosum; xeroderma pigmentosum, complementation group type D; XPH; xeroderma pigmentosum caused by mutation in ERCC2; xeroderma pigmentosum, group D; XPDC; XP group H; XPD; xeroderma pigmentosum group D; XP group D; xeroderma pigmentosum group type D

Definition

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.

Disease Hierarchy

DISJ0QRY: Xeroderma pigmentosum-Cockayne syndrome complex

DISQ9H19: Xeroderma pigmentosum

DISFFE93: Xeroderma pigmentosum group D

Disease Identifiers

MONDO ID

MONDO_0010212

MESH ID

C562591

UMLS CUI

C0268138

OMIM ID

278730

MedGen ID

75656

SNOMED CT ID

68637004

General Information of Disease (ID: DISFFE93)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OGG1	TTRU01G	Limited	Biomarker	[1]
NR1H2	TTXA6PH	Strong	Biomarker	[2]
RRM1	TTWP0NS	Strong	Genetic Variation	[3]
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This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A10	DEL5N6Y	Limited	Biomarker	[4]
UGT1A3	DEF2WXN	Limited	Biomarker	[4]
UGT1A4	DELOY3P	Limited	Biomarker	[4]
UGT1A5	DEPF954	Limited	Biomarker	[4]
UGT1A8	DE2GB8N	Limited	Biomarker	[4]
UGT1A9	DE85D2P	Limited	Biomarker	[4]
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⏷ Show the Full List of 6 DME(s)

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CIAO2B	OTICRN6N	Limited	Biomarker	[5]
HFM1	OTHV3EFE	Limited	Biomarker	[6]
MMS19	OTAXB34N	Limited	Biomarker	[5]
FANCG	OT7MC8TZ	Disputed	Genetic Variation	[7]
APOBEC3B	OTHLNI51	Strong	Genetic Variation	[8]
ERCC3	OTVAW3P1	Strong	Genetic Variation	[9]
ERCC5	OTQAKFJM	Strong	Genetic Variation	[1]
GTF2H1	OTCRXC6B	Strong	Biomarker	[5]
GTF2H2	OTK72L9I	Strong	Biomarker	[5]
GTF2H3	OT87W5QJ	Strong	Biomarker	[5]
GTF2H4	OTPD1DIU	Strong	Biomarker	[5]
GTF2H5	OTRL219S	Strong	Biomarker	[5]
ERCC2	OT1C8HQ4	Definitive	Autosomal recessive	[10]
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⏷ Show the Full List of 13 DOT(s)

References

1	Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia.Genet Test Mol Biomarkers. 2016 Jan;20(1):11-7. doi: 10.1089/gtmb.2015.0168. Epub 2015 Nov 10.
2	Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells.Med Sci Monit. 2018 Jan 24;24:453-460. doi: 10.12659/msm.905319.
3	Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.Clin Lung Cancer. 2017 Mar;18(2):178-188.e4. doi: 10.1016/j.cllc.2016.08.007. Epub 2016 Nov 9.
4	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy.Pharmacogenomics J. 2008 Aug;8(4):278-88. doi: 10.1038/sj.tpj.6500463. Epub 2007 Jun 5.
5	MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.Mol Cell. 2010 Aug 27;39(4):632-40. doi: 10.1016/j.molcel.2010.07.029.
6	Homozygous Wildtype of XPD K751Q Polymorphism Is Associated with Increased Risk of Nasopharyngeal Carcinoma in Malaysian Population.PLoS One. 2015 Jun 18;10(6):e0130530. doi: 10.1371/journal.pone.0130530. eCollection 2015.
7	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.Carcinogenesis. 2006 Mar;27(3):560-7. doi: 10.1093/carcin/bgi232. Epub 2005 Sep 29.
8	Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine.Genet Mol Res. 2014 Apr 29;13(2):3310-8. doi: 10.4238/2014.April.29.9.
9	Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.Eur J Hum Genet. 2012 Jun;20(6):626-31. doi: 10.1038/ejhg.2011.249. Epub 2012 Jan 11.
10	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.