junctional epidermolysis bullosa, non-Herlitz type
Findings
No curated finding names junctional epidermolysis bullosa, non-Herlitz type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0009180), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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
- 3 of 3 reported patients
- Carious teethHPOHP:0000670
- 3 of 3 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 3 of 3 reported patients
- Patchy alopeciaHPOHP:0002232
- 3 of 3 reported patients
Genes
5 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.
- COL17A1HGNC:2194
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- LAMB3HGNC:6490
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- ITGB4HGNC:6158
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- LAMA3HGNC:6483
Where it sits
- A kind of
Other names
1 name
Resolves to: junctional epidermolysis bullosa, non-Herlitz type
- Also called
- JEN-nH