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SLC52A3 and metabolic syndrome are reported together in 1 article.
Gene
SLC52A3
- HGNC
- HGNC:16187
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Metabolic syndrome
141articles
141mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.
PMID 38745833 | PMCID PMC11091239 | DOI 10.3389/fped.2024.1377515 · Frontiers in pediatrics · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “BACKGROUND: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3.” | 0.98 | hgnc_dict_v1 |
| phenotype | metabolic syndrome | “Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SLC52A2 | “BACKGROUND: Brown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group.” | 0.98 | phenotype_alias_lexicon_v2 |