xeroderma pigmentosum group F
Findings
No curated finding names xeroderma pigmentosum group F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.
Definition from the Mondo Disease Ontology (MONDO:0010215), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- ErythemaHPOHP:0010783
- 14 of 14 reported patients
- FrecklingHPOHP:0001480
- 18 of 18 reported patients
- Basal cell carcinomaHPOHP:0002671
- 9 of 18 reported patients
- KeratoacanthomaHPOHP:0031525
- 3 of 18 reported patients
- Squamous cell carcinomaHPOHP:0002860
- 2 of 18 reported patients
- Deficient excision of UV-induced pyrimidine dimers in DNAHPOHP:0003213
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.
- ERCC4HGNC:3436
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: xeroderma pigmentosum group F
- Also called
- ERCC4 xeroderma pigmentosumxeroderma pigmentosum caused by mutation in ERCC4xeroderma pigmentosum group type Fxeroderma pigmentosum, complementation group type Fxeroderma pigmentosum, group FXP-FXP, group FXP6XPF