Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

AGel amyloidosis
Synonyms

Familial amyloid polyneuropathy type IV

Hereditary amyloidosis, Finnish type

Gelsolin amyloidosis

Familial amyloidosis, Finnish type
Definitions

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.
ID

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

Familial amyloid polyneuropathy type IV

Hereditary amyloidosis, Finnish type

Gelsolin amyloidosis

Familial amyloidosis, Finnish type
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=85448
has_age_of_onset

Adult
has_inheritance

Autosomal dominant
hasDbXref

ICD-11:5D00.2Y

ICD-10:E85.1

OMIM:105120

UMLS:C0936273
label

AGel amyloidosis
notation

ORPHA:85448
part_of

http://www.orpha.net/ORDO/Orphanet_207021

http://www.orpha.net/ORDO/Orphanet_69

http://www.orpha.net/ORDO/Orphanet_98628

http://www.orpha.net/ORDO/Orphanet_444116
prefixIRI

ORDO:Orphanet_85448
prefLabel

AGel amyloidosis
present_in

Worldwide AND has_cases/families_value : 475.0 (Case)

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_207021

http://www.orpha.net/ORDO/Orphanet_69

http://www.orpha.net/ORDO/Orphanet_98628

http://www.orpha.net/ORDO/Orphanet_444116
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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