FB2024_04 , released June 25, 2024
Human Disease Model Report: Wolfram syndrome 1
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General Information
Name
Wolfram syndrome 1
FlyBase ID
FBhh0000807
Disease Ontology Term
Parent Disease
OMIM
WOLFRAM SYNDROME 1; WFS1
Overview

Wolfram syndrome 1 is one of several diseases with an overlapping array of phenotypes for which the WFS1 gene is implicated; it is the most severe. Wolfram syndrome 1 exhibits autosomal recessive inheritance. For information concerning fly models, see the human disease model report 'WFS1-related disorders' (FBhh0000806).

[updated May 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Wolfram syndrome 1
OMIM report

[WOLFRAM SYNDROME 1; WFS1](https://omim.org/entry/222300)

Human gene(s) implicated

[WOLFRAMIN ER TRANSMEMBRANE GLYCOPROTEIN; WFS1](https://omim.org/entry/606201)

Symptoms and phenotype

Wolfram syndrome is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. [Gene Reviews, WFS1-Related Disorders; 2018.05.14]

(FlyBase Curators, 2013-)
Genetics

Wolfram syndrome-1 (WFS1) is caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). [from MIM:222300; 2018.05.14]

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

The WFS1 encodes a transmembrane glycoprotein that localizes primarily in the endoplasmic reticulum (ER). [from MIM:606201; 2018.05.14]

(OMIM, 2013-)
External links
Disease synonyms
diabetes insipidus and mellitus with optic atrophy and deafness
DIDMOAD
WFS1
Wolfram syndrome
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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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (3)