KEGG   DISEASE: Xeroderma pigmentosum
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
Related
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]
(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 610651 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
PMID:2234061 (XPA)
  Authors
Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y
  Title
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
  Journal
Nature 348:73-6 (1990)
DOI:10.1038/348073a0
Reference
PMID:2167179 (ERCC3)
  Authors
Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH
  Title
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
  Journal
Cell 62:777-91 (1990)
DOI:10.1016/0092-8674(90)90122-u
Reference
PMID:8298653 (XPC)
  Authors
Li L, Bales ES, Peterson CA, Legerski RJ
  Title
Characterization of molecular defects in xeroderma pigmentosum group C.
  Journal
Nat Genet 5:413-7 (1993)
DOI:10.1038/ng1293-413
Reference
PMID:7849702 (ERCC2)
  Authors
Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC
  Title
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
  Journal
Hum Mol Genet 3:1783-8 (1994)
DOI:10.1093/hmg/3.10.1783
Reference
PMID:8798680 (DDB2)
  Authors
Nichols AF, Ong P, Linn S
  Title
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
  Journal
J Biol Chem 271:24317-20 (1996)
DOI:10.1074/jbc.271.40.24317
Reference
PMID:8797827 (ERCC4)
  Authors
Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD
  Title
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
  Journal
Cell 86:811-22 (1996)
DOI:10.1016/s0092-8674(00)80155-5
Reference
PMID:7951246 (ERCC5)
  Authors
Nouspikel T, Clarkson SG
  Title
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
  Journal
Hum Mol Genet 3:963-7 (1994)
DOI:10.1093/hmg/3.6.963
Reference
PMID:10385124 (POLH)
  Authors
Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F
  Title
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
  Journal
Nature 399:700-4 (1999)
DOI:10.1038/21447
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