Details of Disease | DrugMAP

General Information of Disease (ID: DIS91N83)

Disease Name	Brown-Vialetto-van Laere syndrome 2
Synonyms	BROWN-Vialetto-VAN Laere syndrome 2; BVVLS2; Brown-Vialetto-Van Laere syndrome type 2; SLC52A2 Brown-Vialetto-van Laere syndrome; Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2; brown-Vialetto-van Laere syndrome 2
Definition	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.
Disease Hierarchy	DISQDCAW: Riboflavin transporter deficiency DIS91N83: Brown-Vialetto-van Laere syndrome 2
Disease Identifiers	MONDO ID MONDO_0013867 UMLS CUI C3553538 OMIM ID 614707 MedGen ID 766452 Orphanet ID 572550

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	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC52A2	DTAVOS6	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
SLC52A2	OTPC6NXA	Definitive	Autosomal recessive	[2]
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References

1	Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017 Nov 1;140(11):2820-2837.
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.