MCID: FNN001
MIFTS: 38

Finnish Type Amyloidosis malady

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

Summaries for Finnish Type Amyloidosis

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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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:48 105120

Aliases & Classifications for Finnish Type Amyloidosis

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Sources:
63UMLS, 9Disease Ontology, 46Novoseek, 10diseasecard, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial amyloid polyneuropathy type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

finnish type amyloidosis 9 46
amyloidosis, finnish type 10 48
amyloidosis, hereditary, transthyretin-related 63
familial amyloid polyneuropathy, type v 63
familial amyloid polyneuropathy type 4 50
hereditary amyloidosis, finnish type 50
familial amyloidosis, finnish type 50
amyloidosis, meretoja type 9
gelsolin amyloidosis 50


External Ids:

Disease Ontology9 DOID:0050637
OMIM48 105120
ICD10 via Orphanet27 E85.1

Related Diseases for Finnish Type Amyloidosis

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18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Finnish Type Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Finnish Type Amyloidosis

Search NIH Clinical Center for Finnish Type Amyloidosis

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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Sources:
34MalaCards
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MalaCards organs/tissues related to Finnish Type Amyloidosis:

34
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Finnish Type Amyloidosis:

65
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, 16Gene 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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Sources:
51PathCards, 56Reactome
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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:
46Novoseek, 25HMDB, 3BitterDB, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1retinyl palmitate46 2510.5APOE, TTR
2thiamine46 3 25 1212.5TTR, APOE
3guanidine46 25 1211.5TTR, APOE
4vitamin b12469.5TTR, APOE
5betacarotene469.5APOE, TTR
6guanidine hydrochloride469.5APOE, TTR
7alpha tocopherol469.5APOE, TTR
8homocysteine46 2510.5TTR, APOE
9adenine46 25 1211.5APOE, TTR
10carbohydrates469.5APOE, TTR
11thyroxine46 2510.5TTR, APOE
12hyaluronic acid46 2510.5APOE, TTR
13folate469.4APOE, TTR
14trifluoroethanol46 1210.4TTR, GSN
15nicotine46 30 52 1212.4TTR, APOE
16valine469.4APOE, TTR
17vitamin a46 25 1211.4APOE, TTR
18guanine46 25 1211.4TTR, APOE
19aspirin46 52 30 2512.4APOE, TTR
20phospholipid469.3GSN, APOE
21retinoid469.3TTR, APOE
22phosphatidylserine46 30 1211.3GSN, TTR
23ascorbic acid46 2510.3APOE, TTR
24polyacrylamide469.2GSN, TTR
25methionine469.1TTR, GSN
26glutamine469.1APOE, TTR
27fibrinogen469.1GSN, TTR
28paraffin469.0TTR, APOE
29thioflavin t468.9GSN, APOE, TTR
30sodium dodecylsulfate468.9GSN, APOE, TTR
31vitamin d468.9TTR, APOE, GSN
32dopamine46 30 25 1211.9GSN, APOE, TTR
33aspartate468.9GSN, APOE, TTR
34testosterone46 62 25 1211.9GSN, APOE, TTR
35glutamate468.9TTR, APOE, GSN
36alanine468.9GSN, APOE, TTR
37cysteine468.9TTR, APOE, GSN
38cyclosporin a46 30 6210.8APOE, TTR
39serine468.8TTR, APOE, GSN

GO Terms for genes affiliated with Finnish Type Amyloidosis

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet