KEGG   DISEASE: Xeroderma pigmentosumHelp
Entry
H01428                      Disease                                

Name
Xeroderma pigmentosum
  Supergrp
Disorders of nucleotide excision repair [DS:H00403]
Description
Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01428  Xeroderma pigmentosum
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01428  Xeroderma pigmentosum
BRITE hierarchy
Pathway
hsa03420 Nucleotide excision repair   
Gene
(XPA) XPA [HSA:7507] [KO:K10847]
(XPB) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE) DDB1 [HSA:1642] [KO:K10610]
(XPF) ERCC4 [HSA:2072] [KO:K10848]
(XPG) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: LD27.1
ICD-10: Q82.1
MeSH: D014983
OMIM: 278700 61065 278720 278730 278740 278760 278780 278750
Reference
  Authors
Cleaver JE, Lam ET, Revet I
  Title
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
  Journal
Nat Rev Genet 10:756-68 (2009)
DOI:10.1038/nrg2663
Reference
  Authors
Queille S, Drougard C, Sarasin A, Daya-Grosjean L
  Title
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
  Journal
J Invest Dermatol 117:1162-70 (2001)
DOI:10.1046/j.0022-202x.2001.01533.x

» Japanese version

DBGET integrated database retrieval system