MCID: FNN001
MIFTS: 36

Finnish Type Amyloidosis malady

Neuronal, Eye, Bone, Genetic categories

Summaries for Finnish Type Amyloidosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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MalaCards: Finnish Type Amyloidosis, also known as amyloidosis, finnish type, is related to amyloidosis and hereditary amyloidosis. An important gene associated with Finnish Type Amyloidosis is GSN (gelsolin), and among its related pathways are Visual phototransduction and Disease. The compounds vitamin d and retinyl palmitate have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:47 105120

Aliases & Classifications for Finnish Type Amyloidosis

Sources:
61UMLS, 8Disease Ontology, 45Novoseek, 9diseasecard, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Eye, Bone


Characteristics (Orphanet epidemiological data):

49
familial amyloid polyneuropathy type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

finnish type amyloidosis 8 45
amyloidosis, finnish type 9 47
amyloidosis, hereditary, transthyretin-related 61
familial amyloid polyneuropathy, type v 61
familial amyloid polyneuropathy type 4 49
hereditary amyloidosis, finnish type 49
familial amyloidosis, finnish type 49
amyloidosis, meretoja type 8
gelsolin amyloidosis 49


External Ids:

Disease Ontology8 DOID:0050637
OMIM47 105120
ICD10 via Orphanet26 E85.1

Related Diseases for Finnish Type Amyloidosis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Finnish Type Amyloidosis:



Diseases related to finnish type amyloidosis

Clinical Features for Finnish Type Amyloidosis

Sources:
47OMIM
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Clinical features from OMIM:

105120

Clinical synopsis from OMIM:

105120

Drugs & Therapeutics for Finnish Type Amyloidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Finnish Type Amyloidosis

Drug clinical trials:

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Search CenterWatch for Finnish Type Amyloidosis

Genetic Tests for Finnish Type Amyloidosis

Anatomical Context for Finnish Type Amyloidosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Finnish Type Amyloidosis:

33
Skin

Animal Models for Finnish Type Amyloidosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Finnish Type Amyloidosis

Sources:
51PubMed
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Articles related to Finnish Type Amyloidosis:

(show all 22)
idTitleAuthorsYear
1
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. (22622774)
2012
2
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. (20229579)
2010
3
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. (16258946)
2006
4
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. (14639586)
2003
5
Gelsolin domain 2 Ca2+ affinity determines susceptibility to furin proteolysis and familial amyloidosis of finnish type. (14596804)
2003
6
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. (11753432)
2002
7
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). (11226199)
2001
8
Destabilization of Ca2+-free gelsolin may not be responsible for proteolysis in Familial Amyloidosis of Finnish Type. (11226240)
2001
9
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
10
Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). (10767822)
2000
11
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. (9547007)
1998
12
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). (7868127)
1995
13
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). (7836945)
1994
14
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. (8395367)
1993
15
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. (8243656)
1993
16
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. (8383491)
1993
17
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. (1315718)
1992
18
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. (1322359)
1992
19
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. (1652889)
1991
20
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (2157434)
1990
21
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (2176481)
1990
22
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. (2162627)
1990

Genetic Variations for Finnish Type Amyloidosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Finnish Type Amyloidosis:

63
id Symbol AA change Variation SNP ID
1GSNp.Asp214AsnVAR_007718
2GSNp.Asp214TyrVAR_007719

Expression for genes affiliated with Finnish Type Amyloidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Finnish Type Amyloidosis

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

Pathways for genes affiliated with Finnish Type Amyloidosis

Sources:
54Reactome
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Pathways related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1TTR, APOE
28.5GSN, TTR, APOE

Compounds for genes affiliated with Finnish Type Amyloidosis

Sources:
45Novoseek, 24HMDB, 2BitterDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1vitamin d4510.2GSN
2retinyl palmitate45 2410.5APOE, TTR
3thiamine45 2 11 2412.5TTR, APOE
4guanidine45 11 2411.5TTR, APOE
5vitamin b12459.5TTR, APOE
6betacarotene459.5APOE, TTR
7guanidine hydrochloride459.5TTR, APOE
8alpha tocopherol459.4TTR, APOE
9homocysteine45 2410.4TTR, APOE
10trifluoroethanol45 1110.4GSN, TTR
11adenine45 11 2411.4APOE, TTR
12carbohydrates459.4TTR, APOE
13thyroxine45 2410.4TTR, APOE
14hyaluronic acid45 2410.4APOE, TTR
15folate459.4TTR, APOE
16nicotine45 50 29 1112.3APOE, TTR
17valine459.3TTR, APOE
18vitamin a45 11 2411.2TTR, APOE
19guanine45 11 2411.2APOE, TTR
20phosphatidylserine45 29 1111.2GSN, TTR
21aspirin45 50 29 2412.1TTR, APOE
22ascorbic acid45 2410.1TTR, APOE
23polyacrylamide458.9GSN, TTR
24thioflavin t458.9GSN, TTR, APOE
25sodium dodecylsulfate458.9GSN, TTR, APOE
26dopamine45 29 11 2411.9GSN, TTR, APOE
27aspartate458.9APOE, TTR, GSN
28testosterone45 60 11 2411.9GSN, TTR, APOE
29glutamate458.8GSN, TTR, APOE
30retinoid458.8TTR, APOE
31alanine458.8APOE, TTR, GSN
32cysteine458.8GSN, TTR, APOE

GO Terms for genes affiliated with Finnish Type Amyloidosis

Sources:
16Gene Ontology
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Cellular components related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.0GSN, TTR
2extracellular spaceGO:0056158.4GSN, TTR, APOE
3extracellular regionGO:0055768.2GSN, TTR, APOE

Biological processes related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1agingGO:0075689.3GSN, APOE
2response to ethanolGO:0454719.2GSN, APOE
3retinoid metabolic processGO:0015239.1TTR, APOE
4phototransduction, visible lightGO:0076038.8TTR, APOE

Products for genes affiliated with Finnish Type Amyloidosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Finnish Type Amyloidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet