Genopathy
Gene-Disorder Association · Article
Gene
LAMA3
Laminin Subunit Alpha 3
Disorder
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia
First reported 1975
Key publication · disorder Letter: Elevated amniotic-fluid alpha-fetoprotein without neural-tube defects.Lancet (London, England) · 1975
Manually curated
Association Review

In brief

The association between LAMA3 (Laminin Subunit Alpha 3) and Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 59
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
LAMA3

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

34 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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