erythrokeratodermia variabilis et progressiva 3
MONDO:0033013Mondo
Findings
No curated finding names erythrokeratodermia variabilis et progressiva 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant 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.
- Epidermal acanthosisHPOHP:0025092
- 3 of 3 reported patients
- ErythemaHPOHP:0010783
- 3 of 3 reported patients
- HypergranulosisHPOHP:0025114
- 3 of 3 reported patients
- HyperkeratosisHPOHP:0000962
- 3 of 3 reported patients
- LeukonychiaHPOHP:0001820
- 3 of 3 reported patients
- OrthokeratosisHPOHP:0040162
- 3 of 3 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 3 of 3 reported patients
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.
- GJA1HGNC:4274
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of