epidermolytic ichthyosis
MONDO:0007239Mondo
Findings
No curated finding names epidermolytic ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Definition from the Mondo Disease Ontology (MONDO:0007239), read 2026-09-29. CC BY 4.0.
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.
- KRT1HGNC:6412
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Moderate · Illumina · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT10HGNC:6413
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: epidermolytic ichthyosis
- Also called
- BCIEbullous congenital ichthyosiform erythrodermabullous congenital ichthyosiform erythroderma of Brockbullous ichthyosisEHKEIepidermolytic hyperkeratosisichthyosis hystrix Brocq type