Genopathy
Gene-Disorder Association · Article
Gene
SLC6A3
Solute Carrier Family 6 Member 3
Disorder
Parkinsonism-Dystonia, Infantile
First reported 2011
Supporting publications 6
Key publication · gene–disorder Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.The Lancet. Neurology · 2011
Key publication · disorder Diuretics and zinc.South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde · 1982
Manually curated
Association Review

In brief

The association between SLC6A3 (Solute Carrier Family 6 Member 3) and Parkinsonism-Dystonia, Infantile is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 371
Symptoms 25
Compounds 0
Trials 0
Publications 6
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
SLC6A3

The gene

2 source summaries

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

Request access
04
Parkinsonism-Dystonia, Infantile

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

20 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

371 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

6 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