SLC52A3
HGNC:16187 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
3Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in SLC52A3 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 4 | 4 |
| epilepsy | HP:0001250 | 1 | 1 |
| autism spectrum disorder | HP:0000729 | 1 | 1 |
| metabolic syndrome | — | 1 | 1 |
Linked variants
Variants normalized to SLC52A3| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.634C>T | c.634C>T | 1 | 1 |
| p.Arg212Cys | p.Arg212Cys | 1 | 1 |
| c.1325_1326del | c.1325_1326del | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 3 |
| Not specified | — | 23 | 1 |
| Saudi Arabia | — | 25 | 1 |
Supporting publications
5 records- 2026SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.European journal of human genetics : EJHGPubMed ↗
- 2024Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.Frontiers in pediatricsPubMed ↗
- 2023Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report.CureusPubMed ↗
- 2022SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.Human geneticsPubMed ↗
- 2017Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.Human genome variationPubMed ↗