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Current treatment efforts focus on managing the complications of Wolfram syndrome, such as diabetes.
Researchers have identified more than 100 WFS1 mutations that cause Wolfram syndrome.
It is unclear how WFS1 mutations lead to other features of Wolfram syndrome.
Mutations in WFS1 are associated with the neurodegenerative Wolfram syndrome.
WFS1: Wolfram syndrome 1 (wolframin)
All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy).
Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD.
Three genetic forms have been described: Wolfram Syndrome 1 (WFS1), Wolfram Syndrome 2 (WFS2) and a possible mitochondrial syndrome.
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness DIDMOAD None Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy.
Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.