Xeroderma Pigmentosum, Complementation Group F

Alternative Names

  • XPF
  • XP, Group F
  • Xeroderma Pigmentosum VI
  • XP6
  • Xeroderma Pigmentosum, Type F/Cockayne Syndrome, Included
  • XPF/CS, Included
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

278760

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p13.12

Description

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
278760.1EgyptMaleYesYes Failure to thrive; Tetralogy of Fallot; ...NM_005236.3:c.909T>GHomozygousAutosomal, RecessiveShaheen et al. 2019
© CAGS 2024. All rights reserved.