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AGel amyloidosis

^ http://www.orpha.net/ORDO/Orphanet_85448


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.

Synonyms: Familial amyloidosis, Finnish type, Gelsolin amyloidosis, Familial amyloid polyneuropathy type IV, Hereditary amyloidosis, Finnish type

Term info

database cross reference
  • UMLS:C0936273 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E85.1 (NTBT (narrower term maps to a broader term))
  • OMIM:105120 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E85.1 (Attributed)
hasDbXref

UMLS:C0936273, OMIM:105120, ICD-10:E85.1

notation

ORPHA:85448