UV-sensitive syndrome 1
MONDO:0010909Mondo
Findings
No curated finding names UV-sensitive syndrome 1 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 ERCC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0010909), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Cutaneous photosensitivityHPOHP:0000992
- 2 of 2 reported patients
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- FrecklingHPOHP:0001480
- 1 of 1 reported patient
- Pigmentation anomalies of sun-exposed skinHPOHP:0007623
- 1 of 1 reported patient
- TelangiectasiaHPOHP:0001009
- 1 of 1 reported patient
- Abnormality of the nervous systemHPOHP:0000707
- 0 of 1 reported patient
- Increased cellular sensitivity to UV lightHPO
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.
- HGNC:3438HGNC:3438
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: UV-sensitive syndrome 1
- Also called
- ERCC6 UV-sensitive syndromeUV-sensitive syndrome caused by mutation in ERCC6UV-sensitive syndrome type 1