Brown-Vialetto-Van Laere syndrome

Summary
Definition
A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
Super Class
syndrome
Disease Ontology
DOID:0050694
Mondo Disease Ontology
MeSH
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
55065 SLC52A1 solute carrier family 52 member 1
79581 SLC52A2 solute carrier family 52 member 2
113278 SLC52A3 solute carrier family 52 member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
52710 Slc52a2 solute carrier protein 52, member 2
69698 Slc52a3 solute carrier protein family 52, member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
311536 Slc52a3 solute carrier family 52 member 3
362942 Slc52a2 solute carrier family 52 member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
431729 slc52a3-2b solute carrier family 52 member 3-2b
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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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