Genopathy
Gene-Disorder Association · Article
Gene
ITGA6
Integrin Subunit Alpha 6
Disorder
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
First reported 2003
Supporting publications 4
Key publication · gene–disorder Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.The Journal of investigative dermatology · 2003
Key publication · disorder Ultrastructural findings in epidermolysis bullosa.Archives of dermatology · 1993
Manually curated
Association Review

In brief

The association between ITGA6 (Integrin Subunit Alpha 6) and Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 151
Symptoms 27
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
ITGA6

The gene

1 source summary

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

Request access
04
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

9 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

151 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access