Genopathy
Gene-Disorder Association · Article
Gene
SLC5A6
Solute Carrier Family 5 Member 6
Disorder
Sodium-Dependent Multivitamin Transporter Deficiency
First reported 2022
Supporting publications 5
Key publication · gene–disorder A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.Cold Spring Harbor molecular case studies · 2022
Key publication · disorder Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.Human genetics · 2017
Manually curated
Association Review

In brief

The association between SLC5A6 (Solute Carrier Family 5 Member 6) and Sodium-Dependent Multivitamin Transporter Deficiency is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 13
Symptoms 53
Compounds 0
Trials 0
Publications 5
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
SLC5A6

The gene

1 source summary

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

Request access
04
Sodium-Dependent Multivitamin Transporter Deficiency

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

18 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

13 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

5 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access