erythrokeratodermia variabilis
MONDO:0017851Mondo
Findings
No curated finding names erythrokeratodermia variabilis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.
Definition from the Mondo Disease Ontology (MONDO:0017851), read 2026-09-29. CC BY 4.0.
Features
31 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skin plaqueHPOHP:0200035
- Very frequent (80% to 99% of cases)
- Skin rashHPOHP:0000988
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Abnormal hair morphologyHPOHP:0001595
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
Genes
6 genes
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.
- GJB3HGNC:4285
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- GJA1HGNC:4274
- Supportive · Orphanet · Autosomal dominant · 2021
- GJB4HGNC:4286
- Supportive · Orphanet · Autosomal dominant · 2021
- KDSRHGNC:4021
- Supportive · Orphanet · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT83HGNC:6460
- · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (8)
- erythrokeratodermia variabilis et progressiva 1
- erythrokeratodermia variabilis et progressiva 2
- erythrokeratodermia variabilis et progressiva 3
- erythrokeratodermia variabilis et progressiva 4
- erythrokeratodermia variabilis et progressiva 5
- erythrokeratodermia variabilis et progressiva 6
- erythrokeratodermia variabilis et progressiva 7
- transgrediens et progrediens palmoplantar keratoderma
Other names
7 names
Resolves to: erythrokeratodermia variabilis
- Also called
- Darier-Gottron diseaseEKVerythrokeratodermia progressiva symmetricaerythrokeratodermia variabilis, Mendes da Costa typeIchthyosis, Erythrokeratodermia Variabilisprogressive symmetric erythrokeratodermiaprogressive symmetric erythrokeratodermia, Gottron type