epidermolysis bullosa, junctional 5A, intermediate
MONDO:0030768Mondo
Findings
No curated finding names epidermolysis bullosa, junctional 5A, 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
12 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 · Congenital onset
- 1 of 1 reported patient
- Alopecia of scalpHPOHP:0002293
- 1 of 1 reported patient · Childhood onset
- 0 of 1 reported patient
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- 2 of 2 reported patients
- Lamina lucida cleavageHPOHP:0003341
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- OnychogryphosisHPOHP:0001805
- 1 of 1 reported patient
- Onycholysis of distal fingernailsHPOHP:0008400
- 1 of 1 reported patient
- Premature loss of permanent teethHPOHP:0006357
- 1 of 1 reported patient · Young adult onset
- Stratum basale cleavageHPOHP:0034193
- 1 of 1 reported patient
- Urethral stenosisHPOHP:0008661
- 1 of 1 reported patient · Juvenile onset
- Absent axillary hairHPOHP:0002221
- 1 of 2 reported patients
- Absent pubic hairHPOHP:0002555
- 1 of 2 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.
- ITGB4HGNC:6158
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: epidermolysis bullosa, junctional 5A, intermediate
- Also called
- epidermolysis bullosa, junctional 5A, generalised intermediateepidermolysis bullosa, junctional 5A, generalized intermediateepidermolysis bullosa, junctional 5A, non-herlitz IIAJEB5A