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GTR Home > Conditions/Phenotypes > Autosomal dominant nonsyndromic hearing loss 6

Autosomal dominant nonsyndromic hearing loss 6

Synonyms
Autosomal dominant nonsyndromic deafness 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; WFS1-Related Low-Frequency Sensory Hearing Loss

Summary

WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment. [from GeneReviews]

Available tests

81 tests are in the database for this condition.

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Clinical tests (81 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTRCT41, WFRS, WFS, WFSL, WFS1
    Summary: wolframin ER transmembrane glycoprotein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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