DISEASES

Disease-gene associations mined from literature

Human genes for xeroderma pigmentosum

Xeroderma pigmentosum [DOID:0050427]

Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient.:574 In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas (basaliomas) and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This disease involves both sexes and all races, with an incidence of 1:250,000 and a gene frequency of 1:200. XP is roughly six times more common in Japanese people than in other groups.

Synonyms:  xeroderma pigmentosum,  DOID:0050427

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9