Genopathy
Gene-Disorder Association · Article
Gene
SLC1A3
Solute Carrier Family 1 Member 3
Disorder
Alternating Hemiplegia Of Childhood
First reported 1953
Key publication · disorder [Carotid thrombosis with optic atrophy and alternating hemiplegia].Archives d'ophtalmologie et revue generale d'ophtalmologie · 1953
Manually curated
Association Review

In brief

The association between SLC1A3 (Solute Carrier Family 1 Member 3) and Alternating Hemiplegia Of Childhood is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 69
Compounds 0
Trials 0
Publications 0
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

2 sources

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

Request access
03
SLC1A3

The gene

2 source summaries

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

Request access
04
Alternating Hemiplegia Of Childhood

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

65 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

7 references

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

Request access