Xeroderma Pigmentosum, Complementation Group G

Alternative Names

  • XPG
  • XP, Group G
  • XPGC
  • Xeroderma Pigmentosum VII
  • XP7
  • Xeroderma Pigmentosum, Type G/Cockayne Syndrome
  • XPG/CS
  • Cerebrooculofacioskeletal Syndrome
  • COFS3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

278780

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q33.1

Description

Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome. Xeroderma pigmentosum complementation group G (XPG) and XPG/Cockayne syndrome are caused by homozygous or compound heterozygous mutation in the ERCC5 gene. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
278780.1United Arab EmiratesUnknown Generalized hypotonia; Neurodevelopment...NM_000123.4:c.205C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
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