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xeroderma pigmentosum group D

Disease Summary
Associated Targets (1)


Mondo Description Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.
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. 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.
Mondo Term and Equivalent IDs
MONDO:0010212:  xeroderma pigmentosum group D