ichthyosis, annular epidermolytic 1
MONDO:0100303Mondo
Findings
No curated finding names ichthyosis, annular epidermolytic 1 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 · Neonatal 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.
- Abnormal blistering of the skinHPOHP:0008066
- 2 of 2 reported patients
- ErythemaHPOHP:0010783
- 2 of 2 reported patients
- HyperparakeratosisHPOHP:0040009
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 2 of 2 reported patients
- OrthokeratosisHPOHP:0040162
- 1 of 1 reported patient
- Skin erosionHPOHP:0200041
- 2 of 2 reported patients
- Erythematous plaqueHPOHP:0025474
- 1 of 2 reported patients
- Flexural lichenificationHPOHP:0007453
- 1 of 2 reported patients
- Scaling skinHPOHP:0040189
- 1 of 2 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 2 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 2 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 0 of 2 reported patients
Show the remaining 1
- Congenital bullous ichthyosiform erythrodermaHPOHP:0007475
Genes
2 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.