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GENATLAS PHENOTYPE |
last update : 27-06-2012 |
Symbol | DIDMOAD |
Location | 4p16.1 |
Name | Wolfram syndrome |
Other name(s) | diabetes insipidus, diabetes mellitus, optic atrophy and deafness 2 |
Corresponding gene | WFS1 |
Other symbol(s) | DIDMOAD2, WFS1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
ear | |
eye | |
kidney and urinary tract | |
Type | disease |
Gene product |
Name | wolframin |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| E864K, in exon 8, leading to optic atrophy associated with hearing impairment and impaired glucose regulation (increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells)
| |
Remark(s) | pathogenesis of Wolfram syndrome involves chronic ER stress in pancreatic beta-cells caused by the loss of function of WFS1 |