Genopathy
Gene-Disorder Association · Article
Gene
SLC26A4
Solute Carrier Family 26 Member 4
Disorder
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
First reported 1999
Supporting publications 82
Key publication · gene–disorder Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.Human genetics · 1999
Key publication · disorder The large vestibular aqueduct syndrome.The Laryngoscope · 1978
Manually curated
Association Review

In brief

The association between SLC26A4 (Solute Carrier Family 26 Member 4) and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 578
Symptoms 7
Compounds 0
Trials 0
Publications 82
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

4 sources

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

Request access
03
SLC26A4

The gene

1 source summary

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

Request access
04
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

4 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

578 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

82 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access