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AGel amyloidosis

Disease definition

AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

ORPHA:85448

  • Synonym(s):
    • Familial amyloid polyneuropathy type IV
    • Familial amyloidosis, Finnish type
    • Gelsolin amyloidosis
    • Hereditary amyloidosis, Finnish type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E85.1
  • OMIM: 105120
  • UMLS: C0936273
  • MeSH: -
  • GARD: 2339
  • MedDRA: -

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