MCID: FNN001
MIFTS: 38

Finnish Type Amyloidosis malady

Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Rare diseases categories
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Summaries for Finnish Type Amyloidosis

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Sources:
65Wikipedia, 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 Diseases associated with visual transduction and Disease. The compounds retinyl palmitate and thiamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone.

Description from OMIM:47 105120

Aliases & Classifications for Finnish Type Amyloidosis

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Sources:
62UMLS, 8Disease Ontology, 45Novoseek, 9diseasecard, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



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 62
familial amyloid polyneuropathy, type v 62
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

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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

Symptoms for Finnish Type Amyloidosis

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47OMIM
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Symptoms by clinical synopsis from OMIM:

105120

Clinical features from OMIM:

105120

Drugs & Therapeutics for Finnish Type Amyloidosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Finnish Type Amyloidosis

Search NIH Clinical Center for Finnish Type Amyloidosis

Genetic Tests for Finnish Type Amyloidosis

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Anatomical Context for Finnish Type Amyloidosis

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

33
Skin, Eye, Bone

Animal Models for Finnish Type Amyloidosis or affiliated genes

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Publications for Finnish Type Amyloidosis

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Variations for Finnish Type Amyloidosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Finnish Type Amyloidosis:

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

Clinvar genetic disease variations for Finnish Type Amyloidosis:

1
id Gene Name 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 Finnish Type Amyloidosis

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Sources:
2BioGPS, 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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50PathCards, 55Reactome
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Pathways related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Finnish Type Amyloidosis

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Sources:
45Novoseek, 24HMDB, 3BitterDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1retinyl palmitate45 2410.5APOE, TTR
2thiamine45 3 24 1112.5TTR, APOE
3guanidine45 24 1111.5TTR, APOE
4vitamin b12459.5TTR, APOE
5betacarotene459.5APOE, TTR
6guanidine hydrochloride459.5APOE, TTR
7alpha tocopherol459.5APOE, TTR
8homocysteine45 2410.5TTR, APOE
9adenine45 24 1111.5APOE, TTR
10carbohydrates459.5APOE, TTR
11thyroxine45 2410.5TTR, APOE
12hyaluronic acid45 2410.5APOE, TTR
13folate459.4APOE, TTR
14trifluoroethanol45 1110.4TTR, GSN
15nicotine45 29 51 1112.4TTR, APOE
16valine459.4APOE, TTR
17vitamin a45 24 1111.4APOE, TTR
18guanine45 24 1111.4TTR, APOE
19aspirin45 51 29 2412.4APOE, TTR
20phospholipid459.3GSN, APOE
21retinoid459.3TTR, APOE
22phosphatidylserine45 29 1111.3GSN, TTR
23ascorbic acid45 2410.3APOE, TTR
24polyacrylamide459.2GSN, TTR
25methionine459.1TTR, GSN
26glutamine459.1APOE, TTR
27fibrinogen459.1GSN, TTR
28paraffin459.0TTR, APOE
29thioflavin t458.9GSN, APOE, TTR
30sodium dodecylsulfate458.9GSN, APOE, TTR
31vitamin d458.9TTR, APOE, GSN
32dopamine45 29 24 1111.9GSN, APOE, TTR
33aspartate458.9GSN, APOE, TTR
34testosterone45 61 24 1111.9GSN, APOE, TTR
35glutamate458.9TTR, APOE, GSN
36alanine458.9GSN, APOE, TTR
37cysteine458.9TTR, APOE, GSN
38cyclosporin a45 29 6110.8APOE, TTR
39serine458.8TTR, APOE, GSN

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
1blood microparticleGO:0725629.2GSN, APOE
2protein complexGO:0432349.0GSN, TTR
3extracellular regionGO:0055768.2GSN, APOE, TTR

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:0015239.1APOE, TTR
4phototransduction, visible lightGO:0076038.8APOE, TTR

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet