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Xeroderma pigmentosum group C
rareAn autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
- Identifiers
- MONDO:0010211 OMIM:278720Orphanet:276255
- Causal genes
- XPC
- Part of
- Xeroderma pigmentosum
- Also known as
- xeroderma pigmentosum group type C · xeroderma pigmentosum, complementation group C · xeroderma pigmentosum, complementation group type C · xeroderma pigmentosum, group C · xeroderma pigmentosum, type 3
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