MCID: AMY084
MIFTS: 35

Amyloidosis, Finnish Type malady

Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Amyloidosis, Finnish Type

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Aliases & Descriptions for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 49 11
Finnish Type Amyloidosis 10 47 12 67
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 67
Familial Amyloid Polyneuropathy Type Iv 67
Familial Amyloid Polyneuropathy, Type V 65
Amyloidosis Due to Mutant Gelsolin 67
Lattice Corneal Dystrophy Type Ii 67
Familial Amyloidosis Finnish Type 67
 
Amyloidosis, Meretoja Type 10
Meretoja Type Amyloidosis 67
Gelsolin Amyloidosis 67
Meretoja Syndrome 65
Amyloidosis 5 67
Amyloidosis V 67
Amyl5 67
Agel 67


Classifications:



External Ids:

OMIM49 105120
Disease Ontology10 DOID:0050637
MeSH36 D028226

Summaries for Amyloidosis, Finnish Type

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OMIM:49 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including... (105120) more...

MalaCards based summary: Amyloidosis, Finnish Type, also known as finnish type amyloidosis, is related to familial amyloidosis, finnish type and amyloidosis, and has symptoms including autosomal dominant inheritance, renal insufficiency and nephrotic syndrome. An important gene associated with Amyloidosis, Finnish Type is GSN (Gelsolin), and among its related pathways are Ca, cAMP and Lipid Signaling and Visual phototransduction. Affiliated tissues include skin.

UniProtKB/Swiss-Prot:67 Amyloidosis 5: A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.

Related Diseases for Amyloidosis, Finnish Type

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Graphical network of the top 20 diseases related to Amyloidosis, Finnish Type:



Diseases related to amyloidosis, finnish type

Symptoms for Amyloidosis, Finnish Type

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Symptoms by clinical synopsis from OMIM:

105120

Clinical features from OMIM:

105120

HPO human phenotypes related to Amyloidosis, Finnish Type:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 nephrotic syndrome HP:0000100
4 cutis laxa HP:0000973
5 lattice corneal dystrophy HP:0001149
6 polyneuropathy HP:0001271
7 bulbar palsy HP:0001283
8 abnormality of the abdomen HP:0001438
9 cardiomyopathy HP:0001638
10 generalized amyloid deposition HP:0003216
11 adult onset HP:0003581

Drugs & Therapeutics for Amyloidosis, Finnish Type

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ascending Single Dose Study of Rhu-pGelsolin in Patients With Decreased Gelsolin LevelsCompletedNCT00671307Phase 1, Phase 2

Search NIH Clinical Center for Amyloidosis, Finnish Type

Genetic Tests for Amyloidosis, Finnish Type

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Anatomical Context for Amyloidosis, Finnish Type

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MalaCards organs/tissues related to Amyloidosis, Finnish Type:

33
Skin

Animal Models for Amyloidosis, Finnish Type or affiliated genes

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Publications for Amyloidosis, Finnish Type

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Articles related to Amyloidosis, Finnish Type:

(show all 16)
idTitleAuthorsYear
1
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. (25444639)
2015
2
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. (14639586)
2003
3
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. (11753432)
2002
4
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). (11226199)
2001
5
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
6
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. (9547007)
1998
7
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). (7868127)
1995
8
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). (7836945)
1994
9
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. (8107706)
1994
10
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. (8395367)
1993
11
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. (8243656)
1993
12
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. (8383491)
1993
13
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. (1322359)
1992
14
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (2157434)
1990
15
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (2176481)
1990
16
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. (2162627)
1990

Variations for Amyloidosis, Finnish Type

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Finnish Type:

67
id Symbol AA change Variation ID SNP ID
1GSNp.Asp214AsnVAR_007718
2GSNp.Asp214TyrVAR_007719

Clinvar genetic disease variations for Amyloidosis, Finnish Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GSNNM_001127666.1(GSN): c.520G> A (p.Asp174Asn)single nucleotide variantPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097
2GSNNM_001127666.1(GSN): c.520G> T (p.Asp174Tyr)single nucleotide variantPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097

Expression for genes affiliated with Amyloidosis, Finnish Type

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Search GEO for disease gene expression data for Amyloidosis, Finnish Type.

Pathways for genes affiliated with Amyloidosis, Finnish Type

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Pathways related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3APOE, GSN
2
Show member pathways
9.1APOE, TTR

GO Terms for genes affiliated with Amyloidosis, Finnish Type

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Cellular components related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.8APOE, GSN
2extracellular spaceGO:00056158.5APOE, GSN, TTR
3extracellular regionGO:00055768.2APOE, GSN, TTR

Biological processes related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phototransduction, visible lightGO:00076039.1APOE, TTR
2retinoid metabolic processGO:00015238.8APOE, TTR

Sources for Amyloidosis, Finnish Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet