Wolfram Syndrome is associated with mutations in WFS1.
Protein: wolframin (transmembrane protein located in the endoplasmic reticulum)
Inheritance: autosomal recessive
Key clinical features (DIDMOAD):
(1) diabetes insipidus
(2) diabetes mellitus, type 1 (juvenile onset)
(3) optic atrophy
(4) deafness (sensorineural high-frequency hearing impairment)
(1) psychiatric disease
(2) neurogenic bladder or bladder dyssynergia
(4) cerebellar ataxia
(5) cardiac malformations or cardiomyopathy
(7) growth retardation
(8) delayed onset of puberty and/or hypogonadism
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