xeroderma pigmentosum group D
Findings
No curated finding names xeroderma pigmentosum group D 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 ERCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010212), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
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.
- ERCC2HGNC:3434
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: xeroderma pigmentosum group D
- Also called
- ERCC2 xeroderma pigmentosumxeroderma pigmentosum caused by mutation in ERCC2xeroderma pigmentosum group type Dxeroderma pigmentosum, complementation group type Dxeroderma pigmentosum, group DXP-DXP4XPDXPDC