xeroderma pigmentosum group C
Findings
No curated finding names xeroderma pigmentosum group C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Actinic keratosisHPOHP:0025127
- 2 of 2 reported patients
- TelangiectasiaHPOHP:0001009
- 2 of 2 reported patients
- Squamous cell carcinoma of the skinHPOHP:0006739
- 3 of 4 reported patients
- Basal cell carcinomaHPOHP:0002671
- 2 of 4 reported patients
- Cutaneous melanomaHPOHP:0012056
- 2 of 4 reported patients
- Dermal atrophyHPOHP:0004334
- 2 of 4 reported patients
- FrecklingHPOHP:0001480
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- XPCHGNC:12816
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: xeroderma pigmentosum group C
- Also called
- xeroderma pigmentosum group type Cxeroderma pigmentosum, complementation group type Cxeroderma pigmentosum, group CXP-CXP3XPCXPCC