epidermolysis bullosa, junctional 2B, severe
MONDO:0030747Mondo
Findings
No curated finding names epidermolysis bullosa, junctional 2B, severe 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
- Death in infancy · Congenital onset · Death in childhood
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
- 2 of 2 reported patients
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
- 1 of 1 reported patient
- Lamina lucida cleavageHPOHP:0003341
- 1 of 1 reported patient
- Oral mucosal blistersHPOHP:0200097
- 2 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.
- LAMA3HGNC:6483
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: epidermolysis bullosa, junctional 2B, severe
- Also called
- epidermolysis bullosa, junctional 2B, generalised severeepidermolysis bullosa, junctional 2B, generalized severeepidermolysis bullosa, junctional 2B, herlitz IIAJEB2B