IEMbase 0529: SLC52A3-related Brown-Vialetto-Van Laere syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 529 |
| Nosology | 21.3.02.01 |
| Gene | SLC52A3 |
| External IDs | OMIM:211530; ORPHA:97229 |
| Generated mapping | CANDIDATE; fuzzy alias/gene match to Brown-Vialetto-Van_Laere_Syndrome.yaml |
| Candidate DisMech targets | Brown-Vialetto-Van_Laere_Syndrome.yaml#SLC52A3/BVVL1 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC52A3-related riboflavin transporter deficiency, with Brown-Vialetto-Van Laere syndrome type 1 and BVVLS as alternate labels. The record is autosomal recessive, subtype is marked idiopathic, and treatment rows list riboflavin.
The biochemical rows include normal-to-increased C4-C18 acylcarnitines, low or normal free carnitine, normal-to-increased dicarboxylic acids, ethylmalonic acid, glutaric acid, adipic acid, sebacic acid, suberic acid, and low or normal blood flavins. Clinical rows include sensorineural deafness, muscle weakness, pontobulbar palsy, respiratory insufficiency, ataxia, optic atrophy or vision loss, and riboflavin responsiveness.
DisMech phenotype coverage
Brown-Vialetto-Van_Laere_Syndrome.yaml is the correct local target. The local
file explicitly covers BVVL type 1 from biallelic SLC52A3/RFVT3 variants,
riboflavin transporter loss, impaired flavocofactor availability, mitochondrial
dehydrogenase consequences, pontobulbar and motor neuron involvement,
sensorineural hearing loss, respiratory insufficiency, optic atrophy, and
high-dose riboflavin treatment.
The generated CANDIDATE status is conservative, but the concept is correct and should be promoted for manual curation purposes.
Concordance and completeness
Judgement: correct local target with high concordance.
IEMbase and DisMech agree on SLC52A3, Brown-Vialetto-Van Laere syndrome type 1, riboflavin transport, autosomal recessive inheritance, pontobulbar palsy, sensorineural hearing loss, muscle weakness, respiratory insufficiency, optic involvement, and riboflavin responsiveness. IEMbase adds a useful compact organic-acid/acylcarnitine checklist.
Curation actions
- Map this record to
Brown-Vialetto-Van_Laere_Syndrome.yaml, specifically the SLC52A3/BVVL type 1 context. - Consider promoting SLC52A3, BVVL1, BVVLS, and riboflavin transporter labels in future alias matching.
- Preserve IEMbase's ethylmalonic/glutaric acid, dicarboxylic-acid, acylcarnitine, flavin, and riboflavin-responsiveness prompts.