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epidermolysis bullosa, junctional 3A, intermediate (JEB3A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermolysis bullosa, junctional 3A, intermediate

MONDO:0030748

Also known as:JEB3Aepidermolysis bullosa, junctional 3A, generalised intermediateepidermolysis bullosa, junctional 3A, generalized intermediate

Overview

GeneticsAutosomal recessive · LAMC2 (chr 1)

ResearchLimited published research (1 article)

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, and Hypoplastic dermoepidermal hemidesmosomes. 4 total HPO annotations.

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.

LAMC2 encodes laminin subunit gamma 2 (1,193 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 extracellular matrix components. Highest expression in Skin Not Sun Exposed Suprapubic (23.5 TPM) and Lung (22.2 TPM).

Epidermolysis bullosa, junctional 3A, intermediate is associated with mutations in the LAMC2 gene on chromosome 1.

LAMC2 is classified as a druggable target (Druggable Genome category) with score 1.4.

Diagnosis

Genetic testing for LAMC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 3A, intermediate.

1 publication has been identified in PubMed for epidermolysis bullosa, junctional 3A, intermediate. Research spans Epidemiology / Natural History (100%).

Recent Publications

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, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619785

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 3A, intermediate

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team