epidermolysis bullosa, junctional 4, intermediate
MONDO:0030750Mondo
Findings
No curated finding names epidermolysis bullosa, junctional 4, intermediate 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
- 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
- 3 of 3 reported patients
- Carious teethHPOHP:0000670
- 1 of 1 reported patient
- Dental enamel pitsHPOHP:0009722
- 1 of 1 reported patient
- Dystrophic fingernailsHPOHP:0008391
- 1 of 1 reported patient
- Lamina lucida cleavageHPOHP:0003341
- 1 of 1 reported patient
- Macular hyperpigmented dermopathyHPOHP:0007412
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 2 of 2 reported patients
- Scarring alopecia of scalpHPOHP:0004552
- 3 of 3 reported patients
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.
- COL17A1HGNC:2194
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: epidermolysis bullosa, junctional 4, intermediate
- Also called
- epidermolysis bullosa, generalised atrophic benignepidermolysis bullosa, generalized atrophic benignepidermolysis bullosa, junctional 4, non-herlitz IIAepidermolysis bullosa, junctional, localisata variantJEB4