Details of Disease

General Information of Disease (ID: DIS38HWC)

• Disease Name: Xeroderma pigmentosum group A
• Synonyms: xeroderma pigmentosum, type 1; xeroderma pigmentosum, complementation group A; XP, group A; xeroderma pigmentosum group A; xeroderma pigmentosum, complementation group type a; xeroderma pigmentosum, group A; xeroderma pigmentosum complementation group A; XP-A; XP group A; XPA xeroderma pigmentosum; xeroderma pigmentosum group type A; xeroderma pigmentosum caused by mutation in XPA; xeroderma pigmentosum 1; XPA; XP1
• Definition: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.
• Disease Hierarchy:
  DISQ9H19: Xeroderma pigmentosum
  DIS38HWC: Xeroderma pigmentosum group A
• Disease Identifiers:
  MONDO ID: MONDO_0010210
  UMLS CUI: C0268135
  OMIM ID: 278700
  MedGen ID: 82775
  SNOMED CT ID: 43477006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XPA	OTO2MEFR	Definitive	Autosomal recessive	[1]
ERCC1	OTNPYQHI	moderate	Biomarker	[4]
CEP164	OTLNRPAR	Strong	Biomarker	[5]
ERCC2	OT1C8HQ4	Strong	Genetic Variation	[6]
ERCC4	OTFIOPG1	Strong	Genetic Variation	[7]
GTF2H2	OTK72L9I	Strong	Genetic Variation	[2]
GTF2H3	OT87W5QJ	Strong	Genetic Variation	[2]
GTF2H5	OTRL219S	Strong	Genetic Variation	[2]
H1-0	OTRLJK4Z	Strong	Genetic Variation	[8]
POLH	OTN07WXU	Strong	Genetic Variation	[9]

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DHFR	TTYZVDJ	Strong	Genetic Variation	[2]
NR1H2	TTXA6PH	Strong	Biomarker	[3]
XPA	TTGT87E	Definitive	Autosomal recessive	[1]

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] Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair.Nucleic Acids Res. 1998 Oct 15;26(20):4662-8. doi: 10.1093/nar/26.20.4662.
• [3] Differential sensitivities of cellular XPA and PARP-1 to arsenite inhibition and zinc rescue.Toxicol Appl Pharmacol. 2017 Sep 15;331:108-115. doi: 10.1016/j.taap.2017.05.031. Epub 2017 May 25.
• [4] Expression of domains for protein-protein interaction of nucleotide excision repair proteins modifies cancer cell sensitivity to platinum derivatives and genomic stability.Clin Exp Pharmacol Physiol. 2014 Oct;41(10):817-24. doi: 10.1111/1440-1681.12282.
• [5] UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.Cell Cycle. 2009 Feb 15;8(4):655-64. doi: 10.4161/cc.8.4.7844. Epub 2009 Feb 14.
• [6] Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma.Anticancer Res. 2010 Jun;30(6):2203-8.
• [7] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.Int J Med Sci. 2007 Feb 1;4(2):59-71. doi: 10.7150/ijms.4.59.
• [8] Chromatin-associated DNA endonucleases from xeroderma pigmentosum cells are defective in interaction with damaged nucleosomal DNA.Mutat Res. 1990 Mar;235(2):65-80. doi: 10.1016/0921-8777(90)90059-e.
• [9] 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.