You are using an outdated browser. Please upgrade your browser to improve your experience.

xeroderma pigmentosum variant type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Uniprot Description An 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. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.
Mondo Term and Equivalent IDs
MONDO:0010214:  xeroderma pigmentosum variant type
GARD:0005630: 
MESH:C536766: 
NCIT:C141367: 
Orphanet:90342: 
UMLS:C1848410: