Genopathy
Gene-Disorder Association · Article
Gene
SLC26A3
Solute Carrier Family 26 Member 3
Disorder
Diarrhea 1, Secretory Chloride, Congenital
First reported 1996
Supporting publications 21
Key publication · gene–disorder Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.Nature genetics · 1996
Key publication · disorder Congenital alkalosis with diarrhea.A.M.A. American journal of diseases of children · 1954
Manually curated
Association Review

In brief

The association between SLC26A3 (Solute Carrier Family 26 Member 3) and Diarrhea 1, Secretory Chloride, Congenital is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 154
Symptoms 28
Compounds 0
Trials 0
Publications 21
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
SLC26A3

The gene

1 source summary

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

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04
Diarrhea 1, Secretory Chloride, Congenital

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

18 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

154 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

21 publications

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

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09
Provenance

References & sources

17 references

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

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