MCID: FNN001
MIFTS: 46

Finnish Type Amyloidosis malady

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

Summaries for Finnish Type Amyloidosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

MalaCards: Finnish Type Amyloidosis, also known as amyloidosis, finnish type, is related to amyloidosis and familial transthyretin 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, bone and eye.

Description from OMIM:46 105120

Aliases & Classifications for Finnish Type Amyloidosis

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Sources:
60UMLS, 8Disease Ontology, 44Novoseek, 9diseasecard, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial amyloid polyneuropathy type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

finnish type amyloidosis 8 44
amyloidosis, finnish type 9 46
amyloidosis, hereditary, transthyretin-related 60
familial amyloid polyneuropathy, type v 60
familial amyloid polyneuropathy type 4 48
hereditary amyloidosis, finnish type 48
familial amyloidosis, finnish type 48
amyloidosis, meretoja type 8
gelsolin amyloidosis 48


External Ids:

Disease Ontology8 DOID:0050637
OMIM46 105120
ICD10 via Orphanet26 E85.1

Related Diseases for Finnish Type Amyloidosis

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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

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46OMIM
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Clinical features from OMIM:

105120

Clinical synopsis from OMIM:

105120

Drugs & Therapeutics for Finnish Type Amyloidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Finnish Type Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Finnish Type Amyloidosis:

32
Skin, Bone, Eye, Testes

Animal Models for Finnish Type Amyloidosis or affiliated genes

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Publications for Finnish Type Amyloidosis

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Finnish Type Amyloidosis:

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

Expression for genes affiliated with Finnish Type Amyloidosis

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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

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53Reactome
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Pathways related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Finnish Type Amyloidosis

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Sources:
44Novoseek, 24HMDB, 2BitterDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1vitamin d4410.2GSN
2retinyl palmitate44 2410.5APOE, TTR
3thiamine44 2 11 2412.5TTR, APOE
4guanidine44 11 2411.5TTR, APOE
5vitamin b12449.5TTR, APOE
6betacarotene449.5APOE, TTR
7guanidine hydrochloride449.5TTR, APOE
8alpha tocopherol449.4TTR, APOE
9homocysteine44 2410.4TTR, APOE
10trifluoroethanol44 1110.4GSN, TTR
11adenine44 11 2411.4APOE, TTR
12carbohydrates449.4TTR, APOE
13thyroxine44 2410.4TTR, APOE
14hyaluronic acid44 2410.4APOE, TTR
15folate449.4TTR, APOE
16nicotine44 49 28 1112.3APOE, TTR
17valine449.3TTR, APOE
18vitamin a44 11 2411.2TTR, APOE
19guanine44 11 2411.2APOE, TTR
20phosphatidylserine44 28 1111.2GSN, TTR
21aspirin44 49 28 2412.1TTR, APOE
22ascorbic acid44 2410.1TTR, APOE
23polyacrylamide448.9GSN, TTR
24thioflavin t448.9GSN, TTR, APOE
25sodium dodecylsulfate448.9GSN, TTR, APOE
26dopamine44 28 11 2411.9GSN, TTR, APOE
27aspartate448.9APOE, TTR, GSN
28testosterone44 59 11 2411.9GSN, TTR, APOE
29glutamate448.8GSN, TTR, APOE
30retinoid448.8TTR, APOE
31alanine448.8APOE, TTR, GSN
32cysteine448.8GSN, TTR, APOE

GO Terms for genes affiliated with Finnish Type Amyloidosis

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Finnish Type Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet