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
- OMIM:105120 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E85.1 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- UMLS:C0936273 (E (Exact mapping: the two concepts are equivalent))
definition citation
- Orphanet
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 cases/families value
- 475.0
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
Subclass of:
Related from: