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References OMIM Gene GeneReviews HGMD HGNC
last update : 30/08/2006
Symbol APF
Location 18q12.1
Name familial amyloid polyneuropathy I
Other name(s)
  • amyloidosis I, neuropathic and II
  • Andrade type
  • Corresponding gene TTR
    Main clinical features
  • fatal hereditary syndrome, characterized by the systemic accumulation of mutated transthyretin-derived amyloid fibrils causing progressive deterioration of the peripheral nerves and autonomic failure, leading to death within 10-15 yearsof diagnosis
  • exhibiting variability in penetrance, early or late age of onset, and clinical expression with a marked genetic anticipation in some families, unlikely to be caused by triplet repeat expansions,
  • a wide geographic distribution, Portuguese, Japanese, Swedish, Swiss, German types and others (TTR deposit)
  • Genetic determination autosomal dominant
    Related entries including carpal tunnel syndrome (Omim 115430)
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name transthyretin (V30M) mutation wide geographic distribution