FB2024_03 , released June 25, 2024
Human Disease Model Report: Brown-Vialetto-Van Laere syndrome 1
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General Information
Name
Brown-Vialetto-Van Laere syndrome 1
FlyBase ID
FBhh0000800
Disease Ontology Term
Parent Disease
OMIM
BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
Overview

One of several progressive neurologic disorder in which a riboflavin transporter gene is implicated. See the human disease model report 'riboflavin transporter deficiency neuronopathy' (FBhh0000799) for information about fly models of this and related diseases.

[updated May 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Brown-Vialetto-Van Laere syndrome 1
OMIM report

[BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1](https://omim.org/entry/211530)

Human gene(s) implicated

[SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3](https://omim.org/entry/613350)

Symptoms and phenotype

Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. [from MIM:211530; 2018.05.02]

(OMIM, 2013-)
Genetics

Brown-Vialetto-Van Laere syndrome-1 (BVVLS1), a form of progressive bulbar palsy with sensorineural deafness, is caused by homozygous or compound heterozygous mutation in the SLC52A3 gene. [from MIM:211530; 2018.05.02]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

SLC52A3 is a transmembrane protein that mediates cellular uptake of riboflavin. [from MIM:613350; 2018.05.02]

(OMIM, 2013-)
External links
Disease synonyms
BVVLS1
progressive bulbar palsy with sensorineural deafness
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (2)