peeling skin syndrome 4
MONDO:0011937Mondo
Findings
No curated finding names peeling skin syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.
Definition from the Mondo Disease Ontology (MONDO:0011937), read 2026-09-29. CC BY 4.0.
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.
- CSTAHGNC:2481
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: peeling skin syndrome 4
- Also called
- CSTA peeling skin syndromepeeling skin syndrome caused by mutation in CSTApeeling skin syndrome type 4