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ATTRV30M amyloidosis

Disease definition

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ORPHA:85447

  • Synonym(s):
    • ATTRV30M-related amyloidosis
    • Familial amyloid polyneuropathy type I
    • Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
    • TTR amyloid neuropathy
    • Transthyretin amyloid neuropathy
    • Transthyretin amyloid polyneuropathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E85.1+  G63.3*
  • OMIM: 105210
  • UMLS: C0206245
  • MeSH: -
  • GARD: -
  • MedDRA: -

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