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GENATLAS PHENOTYPE

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)

Remark(s)