Genopathy
Gene-Disorder Association · Article
Gene
ITGB4
Integrin Subunit Beta 4
Disorder
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia
First reported 1995
Supporting publications 17
Key publication · gene–disorder Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.Nature genetics · 1995
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 ITGB4 (Integrin Subunit Beta 4) and Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 566
Symptoms 59
Compounds 0
Trials 0
Publications 17
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

5 sources

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

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03
ITGB4

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
ClinVar and variant evidence

Genetic basis

566 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

17 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

16 references

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

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