Genopathy
Gene-Disorder Association · Article
Gene
LAMA3
Laminin Subunit Alpha 3
Disorder
Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate Or Severe, Autosomal Recessive
First reported 1989
Key publication · disorder Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.Archives of dermatology · 1989
Manually curated
Association Review

In brief

The association between LAMA3 (Laminin Subunit Alpha 3) and Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate Or Severe, Autosomal Recessive is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 36
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 Simplex 1d, Generalized, Intermediate Or Severe, Autosomal Recessive

The disorder

11 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

23 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

7 references

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

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