ichthyosis with erythrokeratoderma
MONDO:0957783Mondo
Findings
No curated finding names ichthyosis with erythrokeratoderma 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
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Congenital ichthyosiform erythrodermaHPOHP:0007431
- Congenital onset
- 1 of 1 reported patient
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 1 of 1 reported patient
- ErythrodermaHPOHP:0001019
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 11 of 11 reported patients
- ParakeratosisHPOHP:0001036
- 1 of 1 reported patient
- LeukonychiaHPOHP:0001820
- 2 of 8 reported patients
- Nail pitsHPOHP:0001803
- 2 of 8 reported patients
- Epidermal acanthosisHPOHP:0025092
- HyperkeratosisHPOHP:0000962
- Palmoplantar keratodermaHPOHP:0000982
- PruritusHPOHP:0000989
Show the remaining 1
- Scaling skinHPOHP:0040189
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.
- KLK11HGNC:6359
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of