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epidermolysis bullosa, junctional 2B, severe (JEB2B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa, junctional 2B, severe

MONDO:0030747

Also known as:JEB2Bepidermolysis bullosa, junctional 2B, generalised severeepidermolysis bullosa, junctional 2B, generalized severe

Overview

GeneticsAutosomal recessive · LAMA3 (chr 18)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Lamina lucida cleavage, Abnormal blistering of the skin, Oral mucosal blisters, and Hypoplastic dermoepidermal hemidesmosomes.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal blistering of the skin, Oral mucosal blisters

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LAMA3 encodes laminin subunit alpha 3 (3,333 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext... Highest expression in Lung (30.0 TPM) and Uterus (28.4 TPM).

Epidermolysis bullosa, junctional 2B, severe is associated with mutations in the LAMA3 gene on chromosome 18.

LAMA3 is classified as a druggable target (Druggable Genome category) with score 1.4.

Diagnosis

Genetic testing for LAMA3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for epidermolysis bullosa, junctional 2B, severe.

2 publications have been identified in PubMed for epidermolysis bullosa, junctional 2B, severe. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Jones EM (2025). [PMID: 39811761](https://pubmed.ncbi.nlm.nih.gov/39811761/). *JID Innov*. [Basic Science / Preclinical]
Valinotto LE (2025). [PMID: 41247183](https://pubmed.ncbi.nlm.nih.gov/41247183/). *Acta Derm Venereol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619784

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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epidermolysis bullosa, junctional 2B, severe

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team