Wolfram-like syndrome, autosomal dominant

Common Name(s)

Wolfram-like syndrome, autosomal dominant

Autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by {6:Valero et al., 2008}). Wolfram syndrome (WFS1; {222300}) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ({125250}), is caused by heterozygous mutation in the OPA1 gene ({605290}).
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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