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Disease characteristics

Excerpted from the GeneReview: WFS1-Related Disorders
WFS1-related disorders range from Wolfram syndrome (WFS) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss [LFSNHL]). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years. WFS-like disease is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency (<2000 Hz) sensorineural hearing loss.

Associated genes

Clinical features

  • Thrombocytopenia
  • Dysarthria
  • Intellectual disability
  • Dysphagia
  • Stroke-like episodes
  • Limited mobility of proximal interphalangeal joint
  • Seizure
  • Nystagmus
  • Tremor
  • Hypothyroidism
  • Neurogenic bladder
  • Testicular atrophy
  • Hydroureter
  • Hydronephrosis
  • Sensorineural hearing impairment
  • Ptosis
  • Pigmentary retinopathy
  • Optic atrophy
  • Behavioral abnormality
  • Diabetes mellitus
  • Diabetes insipidus
  • Ataxia
  • Growth delay
  • Cardiomyopathy
  • Megaloblastic anemia
  • Sideroblastic anemia
  • Cerebral atrophy
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