Disease - Xeroderma pigmentosum complementation group D
- DefinitionAn autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
- AcronymXP-D
- Alternative names
- Keywords
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- General transcription and DNA repair factor IIH helicase subunit XPD · Gene: ERCC2 (XPD, XPDC) · Homo sapiens (Human) · EC:5.6.2.3 · 760 amino acids · Evidence at protein level · Annotation score: 5/5