Wolfram Syndrome
Diseases

Author: Gianpiero Pescarmona
Date: 06/04/2017

Description

DEFINITION

Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.
It has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction

DatabaseLink
The Diseases DatabaseWFS1
MedlinePlus"URL":
Orphanet"Disease":
OMIM single geneFabry
WikigenesAGAL
GeneCards"AGAL":
Kegg PathwayAGAL

Wolfram Syndrome

Tissue distribution

EPIDEMIOLOGY

age, sex, seasonality, etc

SYMPTOMS

DIAGNOSIS

histopathology
radiology
NMR
laboratory tests

PATHOGENESIS

Diabetes

Wolfram syndrome and Diabetes pathogenesis - Results from Quertle® AI-based Biomedical Literature Platform

Early impairment of glucose tolerance and β-cell function in obese children. 2010

Diabetes present in Wolfram syndrome is a result of the selective β cell loss and failed insulin secretion which is probably associated with non-autoimmune pathogenesis.

Eye

Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. 2008

The function of WFS1 (wolframin), the distribution of this protein in the mammalian visual system, and the pathogenesis of optic atrophy in Wolfram syndrome are unclear.

Cochlea

Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. 2016

Elucidating the function of wolframin protein in the basal cells of primates would be essential for understanding the pathogenesis of hearing loss in patients with Wolfram syndrome, which may lead to the discovery of new therapeutics.

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. 2015

Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance of wolframin in the pathogenesis, exact role of WFS1 polymorphic variants in the development of type 1 and type 2 diabetes has not been discovered yet.

PATIENT RISK FACTORS

Vascular

Genetic

Acquired

Hormonal

Genetic

Acquired

TISSUE SPECIFIC RISK FACTORS

anatomical (due its structure)

vascular (due to the local circulation)

physiopathological (due to tissue function and activity)

COMPLICATIONS

THERAPY

AddThis Social Bookmark Button