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last update : 05-02-2015
Symbol AMYL7
Location 18q12.1
Name amyloidosis VII
Other name(s)
  • amyloidosis, Ohio type
  • amyloidosis, oculoleptomeningeal
  • Corresponding gene TTR
    Main clinical features
  • manifestations limited to central nervous and ocular dysfunction
  • characterized by episodes of progressive motor deficit associated with abnormal behavior, seizures, headache, and decreased vision
  • polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name transthyretin (prealbumin)