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epidermolysis bullosa, junctional 2A, intermediate (JEB2A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa, junctional 2A, intermediate

MONDO:0030746

Also known as:JEB2Aepidermolysis bullosa, junctional 2A, generalised intermediateepidermolysis bullosa, junctional 2A, generalized intermediate

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: Abnormal blistering of the skin; and common findings: Subepidermal blistering and Oral mucosal blisters.

Organ System	Phenotype Count	Example Features
Skin	3	Subepidermal blistering, 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 2A, intermediate 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: 1 always present feature, 2 common 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 2A, intermediate.

2 publications have been identified in PubMed for epidermolysis bullosa, junctional 2A, intermediate. Research spans Epidemiology / Natural History (100%).

Recent Publications

Chateau A (2025). [PMID: 40369731](https://pubmed.ncbi.nlm.nih.gov/40369731/). *Int J Dermatol*. [Epidemiology / Natural History]
Besa-Witto C (2025). [PMID: 39777984](https://pubmed.ncbi.nlm.nih.gov/39777984/). *Oral Dis*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619783

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 2A, intermediate

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