Xeroderma pigmentosum group C
Xeroderma pigmentosum group C
Definition
An 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.
Also known as xeroderma pigmentosum group C, xeroderma pigmentosum group type C, xeroderma pigmentosum, complementation group type C, xeroderma pigmentosum, group C, XP-C, XP3, XPC, XPCC — per MONDO
Also identified as
- DOID 0110844 per MONDO
- MESH C567886 per MONDO
- NCIT C114770 per MONDO
- OMIM 278720 per MONDO
- Orphanet 276255 per MONDO
- SCTID 25784009 per MONDO
- UMLS C2752147 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Integumental system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Skin of body | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |