MCID: AMY084
MIFTS: 32

Amyloidosis, Finnish Type malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases categories

Aliases & Classifications for Amyloidosis, Finnish Type

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Amyloidosis, Finnish Type, Aliases & Descriptions:

Name: Amyloidosis, Finnish Type 45 10
Finnish Type Amyloidosis 9 43
Familial Amyloid Polyneuropathy, Type V 60
 
Amyloidosis, Meretoja Type 9
Meretoja Syndrome 60


Classifications:



External Ids:

OMIM45 105120
Disease Ontology9 DOID:0050637

Summaries for Amyloidosis, Finnish Type

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OMIM:45 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 amyloidosis and familial amyloidosis, finnish type, 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 Disease and RNA Polymerase I Promoter Opening. The compounds thioflavin t and trifluoroethanol have been mentioned in the context of this disorder. Affiliated tissues include skin.

Related Diseases for Amyloidosis, Finnish Type

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Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Amyloidosis, Finnish Type

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:

31
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 15)
idTitleAuthorsYear
1
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. (14639586)
2003
2
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. (11753432)
2002
3
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). (11226199)
2001
4
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
5
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. (9547007)
1998
6
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). (7868127)
1995
7
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). (7836945)
1994
8
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. (8107706)
1994
9
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. (8395367)
1993
10
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. (8243656)
1993
11
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. (8383491)
1993
12
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. (1322359)
1992
13
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (2157434)
1990
14
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (2176481)
1990
15
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:

62
id Symbol AA change Variation ID SNP ID
1GSNp.Asp214AsnVAR_007718
2GSNp.Asp214TyrVAR_007719

Clinvar genetic disease variations for Amyloidosis, Finnish Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GSNNM_001127666.1(GSN): c.520G> A (p.Asp174Asn)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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Compounds for genes affiliated with Amyloidosis, Finnish Type

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Sources:
43Novoseek, 12DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1thioflavin t439.5GSN, TTR
2trifluoroethanol43 1210.4GSN, TTR
3sodium dodecylsulfate439.4TTR, GSN
4phosphatidylserine43 28 1211.4GSN, TTR
5polyacrylamide439.4GSN, TTR
6methionine439.4TTR, GSN
7vitamin d439.4GSN, TTR
8fibrinogen439.4GSN, TTR
9dopamine43 28 24 1212.4GSN, TTR
10aspartate439.3TTR, GSN
11leucine439.3TTR, GSN
12adenylate439.3GSN, TTR
13testosterone43 59 24 1212.2GSN, TTR
14glutamate439.2GSN, TTR
15alanine439.1TTR, GSN
16glucose439.1GSN, TTR
17retinoic acid43 2410.0GSN, TTR
18cysteine438.8GSN, 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
1protein complexGO:00432349.1GSN, TTR

Products for genes affiliated with Amyloidosis, Finnish Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amyloidosis, Finnish Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet