Dowling-Degos disease 1
MONDO:0024534Mondo
Findings
No curated finding names Dowling-Degos disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.
Definition from the Mondo Disease Ontology (MONDO:0024534), 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.
- KRT5HGNC:6442
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: Dowling-Degos disease 1
- Also called
- Dowling-Degos disease caused by mutation in KRT5KRT5 Dowling-Degos disease