ichthyosis, annular epidermolytic, 2
MONDO:0859574Mondo
Findings
No curated finding names ichthyosis, annular epidermolytic, 2 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
8 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
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 4 of 4 reported patients · Congenital onset
- IchthyosisHPOHP:0008064
- 1 of 1 reported patient
- OrthokeratosisHPOHP:0040162
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 4 of 4 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 1 reported patient
- Scaling skinHPOHP:0040189
- 4 of 4 reported patients
- Skin erosionHPOHP:0200041
- 4 of 4 reported patients · Congenital onset
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.
- KRT1HGNC:6412
- Strong · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of