Xeroderma Pigmentosum, Complementation Group D (XPD)

Xeroderma Pigmentosum, Complementation Group D, also known as xeroderma pigmentosum, group d, is related to cerebrooculofacioskeletal syndrome 1 and trichothiodystrophy 1, photosensitive, and has symptoms including ataxia, muscle spasticity and photophobia. An important gene associated with Xeroderma Pigmentosum, Complementation Group D is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Metabolism and Homology Directed Repair. Affiliated tissues include skin and eye, and related phenotypes are corneal neovascularization and keratoconjunctivitis sicca