epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
MONDO:0014180Mondo
Findings
No curated finding names epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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 · Infantile onset
- 4 of 4 reported patients
- Abnormal dermoepidermal hemidesmosome morphologyHPOHP:0032449
- 2 of 2 reported patients
- Dystrophic toenailHPOHP:0001810
- 1 of 1 reported patient
- Atrophic scarsHPOHP:0001075
- 0 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 0 of 4 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 0 of 1 reported patient
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.
- DSTHGNC:1090
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- Also called
- DST-related epidermolysis bullosa simplexEBS-AR BP230epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiencyepidermolysis bullosa simplex due to BP230 deficiencyepidermolysis bullosa simplex, autosomal recessive type 2