Dowling-Degos disease 2
MONDO:0014130Mondo
Findings
No curated finding names Dowling-Degos disease 2 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 POFUT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014130), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Hyperkeratotic papuleHPOHP:0045059
- Occasional (5% to 29% of cases)
- Reticular hyperpigmentationHPOHP:0007588
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.
- POFUT1HGNC:14988
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Dowling-Degos disease 2
- Also called
- Dowling-Degos disease caused by mutation in POFUT1Dowling-Degos disease type 2POFUT1 Dowling-Degos disease