MCID: AMY084
MIFTS: 35

Amyloidosis, Finnish Type malady

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

Summaries for Amyloidosis, Finnish Type

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OMIM:47 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.

Aliases & Classifications for Amyloidosis, Finnish Type

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Amyloidosis, Finnish Type, Aliases & Descriptions:

Name: Amyloidosis, Finnish Type 47 11
Finnish Type Amyloidosis 10 45
 
Amyloidosis, Meretoja Type 10


Classifications:



External Ids:

OMIM47 105120
Disease Ontology10 DOID:0050637

Related Diseases for Amyloidosis, Finnish Type

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Diseases in the Familial Amyloidosis, Finnish Type family:

amyloidosis, finnish type

Diseases related to Amyloidosis, Finnish Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2TTR, GSN
2familial amyloidosis, finnish type10.9
3lattice corneal dystrophy type ii10.3
4neuropathy10.2
5amyloid neuropathy10.0TTR, GSN
6amyloidosis, hereditary, transthyretin-related10.0TTR, GSN
7hereditary amyloidosis10.0GSN, TTR
8hemorrhage, intracerebral10.0GSN, TTR
9amyloid tumor10.0TTR, GSN
10polyneuropathy10.0GSN, TTR
11congenital heart disease10.0TTR, GSN
12primary hyperoxaluria10.0TTR, GSN
13leukemia10.0GSN, TTR
14malignant glioma10.0TTR, GSN
15alzheimer disease10.0GSN, TTR

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:

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 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:

64
id Symbol AA change Variation ID SNP ID
1GSNp.Asp214AsnVAR_007718
2GSNp.Asp214TyrVAR_007719

Clinvar genetic disease variations for Amyloidosis, Finnish Type:

7
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:
45Novoseek, 13DrugBank, 30IUPHAR, 26HMDB, 61Tocris Bioscience
See all sources

Compounds related to Amyloidosis, Finnish Type according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1thioflavin t459.5TTR, GSN
2trifluoroethanol45 1310.4GSN, TTR
3sodium dodecylsulfate459.4TTR, GSN
4phosphatidylserine45 30 1311.4GSN, TTR
5polyacrylamide459.4TTR, GSN
6methionine459.4GSN, TTR
7vitamin d459.4GSN, TTR
8fibrinogen459.4TTR, GSN
9dopamine45 30 26 1312.4TTR, GSN
10aspartate459.3GSN, TTR
11leucine459.3GSN, TTR
12adenylate459.3TTR, GSN
13testosterone45 61 26 1312.2GSN, TTR
14glutamate459.2TTR, GSN
15alanine459.1GSN, TTR
16glucose459.1GSN, TTR
17retinoic acid45 2610.0TTR, GSN
18cysteine458.8GSN, TTR

GO Terms for genes affiliated with Amyloidosis, Finnish Type

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Cellular components related to Amyloidosis, Finnish Type according to GeneCards/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet