autosomal dominant Wolfram syndrome

Summary
Definition
A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
Super Class
Wolfram syndrome autosomal dominant disease
Disease Ontology
DOID:0080584
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7466 WFS1 wolframin ER transmembrane glycoprotein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O76024 Wolframin

About Release Notes Help Feedback

International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.4.0

Last updated: December 8, 2025