KEGG   DISEASE: Xeroderma pigmentosumHelp
H01428                      Disease                                

Xeroderma pigmentosum
Disorders of nucleotide excision repair [DS:H00403]
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).
Congenital malformation
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
hsa03420 Nucleotide excision repair   
(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]
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
Cleaver JE, Lam ET, Revet I
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Nat Rev Genet 10:756-68 (2009)
Queille S, Drougard C, Sarasin A, Daya-Grosjean L
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
J Invest Dermatol 117:1162-70 (2001)

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