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SLC52A3 and hearing loss are reported together in 4 articles.
Gene
SLC52A3
- HGNC
- HGNC:16187
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
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
4 records shown · first 60SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.
PMID 42056474 | PMCID PMC13247244 | DOI 10.1038/s41431-026-02106-w · European journal of human genetics : EJHG · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Facial diplegia was the commonest clinical feature (12/13), while moderate to severe hearing loss and dysarthria were seen in (10/13) patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region were retrospectively reviewed.” | 0.80 | saudi_context_rules_v1 |
| variant | c.634C>T | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.95 | hgvs_regex_v1 |
Case 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 | 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 |
| 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 | 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 |
Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report.
PMID 37077589 | PMCID PMC10106315 | DOI 10.7759/cureus.36312 · Cureus · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “Whole exome sequencing revealed a SLC52A3 gene mutation, which confirmed the diagnosis of RTD.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “During the disease course, an audiological assessment revealed severe bilateral sensorineural hearing loss.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Here, we report the second case of RTD in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.
PMID 28580161 | PMCID PMC5444338 | DOI 10.1038/hgv.2017.18 · Human genome variation · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.” | 0.95 | saudi_context_rules_v1 |