erythrokeratodermia variabilis et progressiva 6
MONDO:0032801Mondo
Findings
No curated finding names erythrokeratodermia variabilis et progressiva 6 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.
- Erythematous plaqueHPOHP:0025474
- 18 of 18 reported patients · Infantile onset
- Abnormal dental morphologyHPOHP:0006482
- 0 of 18 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 18 reported patients
- ArrhythmiaHPOHP:0011675
- 0 of 18 reported patients
- ParakeratosisHPOHP:0001036
- PruritusHPOHP:0000989
- Superficial dermal perivascular inflammatory infiltrateHPOHP:0031190
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.
- TRPM4HGNC:17993
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of