Wolfram syndrome 1

Summary
Synonym
  • DIDMOAD
  • WFS1
  • diabetes mellitus AND insipidus with optic atrophy AND deafness
Definition
An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.
Super Class
Wolfram syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0110629
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7466 WFS1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
22393 Wfs1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
42679 wfs1 wolfram syndrome 1

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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: August 19, 2024