UV-sensitive syndrome 2
MONDO:0013829Mondo
Findings
No curated finding names UV-sensitive syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013829), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 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.
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- FrecklingHPOHP:0001480
- 1 of 1 reported patient
- Abnormal circulating porphyrin concentrationHPOHP:0010472
- 0 of 1 reported patient
- Increased cellular sensitivity to UV lightHPOHP:0003224
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.
- ERCC8HGNC:3439
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: UV-sensitive syndrome 2
- Also called
- ERCC8 UV-sensitive syndromeUV-sensitive syndrome caused by mutation in ERCC8UV-sensitive syndrome type 2