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

Hereditary amyloidosis, Finnish type

Gelsolin amyloidosis

Familial amyloid polyneuropathy type IV

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448
hasDbXref
  • ICD-10:E85.1
  • UMLS:C0936273
  • OMIM:105120
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409948
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:85448
part of
  • http://www.orpha.net/ORDO/Orphanet_444116
  • http://www.orpha.net/ORDO/Orphanet_69
  • http://www.orpha.net/ORDO/Orphanet_98628
  • http://www.orpha.net/ORDO/Orphanet_207021
present in
  • http://www.orpha.net/ORDO/Orphanet_409991

Term relations