erythrokeratodermia variabilis et progressiva 5
MONDO:0033015Mondo
Findings
No curated finding names erythrokeratodermia variabilis et progressiva 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- HyperkeratosisHPOHP:0000962
- 4 of 4 reported patients
- Joint stiffnessHPOHP:0001387
- 4 of 4 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 4 of 4 reported patients
- OnychogryphosisHPOHP:0001805
- 3 of 4 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 4 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 4 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.
- KRT83HGNC:6460
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of