Details of Disease | DrugMAP

General Information of Disease (ID: DISFGXWR)

Disease Name	Brown-Vialetto-van Laere syndrome 1
Synonyms	pontobulbar palsy with deafness; BVVLS1; bulbar palsy, progressive, with sensorineural deafness; RTD2; Brown-Vialetto-van Laere syndrome 1; Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3; SLC52A3 Brown-Vialetto-van Laere syndrome; Riboflavin transporter deficiency 2; Brown-Vialetto-Van Laere syndrome 1; rfvt2-related riboflavin transporter deficiency
Definition	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.
Disease Hierarchy	DISQDCAW: Riboflavin transporter deficiency DISFGXWR: Brown-Vialetto-van Laere syndrome 1
Disease Identifiers	MONDO ID MONDO_0024537 MESH ID C537111 UMLS CUI C0796274 OMIM ID 211530 MedGen ID 163239 Orphanet ID 572543

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC52A2	TT6TKEN	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC52A3	DTBVQIO	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC52A3	OT1FHFMK	Definitive	Autosomal recessive	[2]
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References

1	A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.BMC Med Genet. 2019 May 7;20(1):76. doi: 10.1186/s12881-019-0811-1.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.