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Brown-Vialetto-Van Laere syndrome 1

Summary
Definition
A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.
Super Class
Brown-Vialetto-Van Laere syndrome autosomal recessive disease
Disease Ontology
DOID:0080785
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
113278 SLC52A3 solute carrier family 52 member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
69698 Slc52a3 solute carrier protein family 52, member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
311536 Slc52a3 solute carrier family 52 member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
678609 slc52a3-1 solute carrier family 52 member 3-1
Displaying 1 entry
Gene ID Gene Symbol Description Source
178842 rft-2 Riboflavin transporter;Riboflavin transporter rft-2
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024