MCID: FNN001
MIFTS: 39

Finnish Type Amyloidosis malady

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

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Wikipedia:65 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

MalaCards based summary: Finnish Type Amyloidosis, also known as amyloidosis, finnish type, is related to amyloidosis and hereditary amyloidosis, and has symptoms including 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:46 105120

Aliases & Classifications for Finnish Type Amyloidosis

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Sources:
8Disease Ontology, 44Novoseek, 62UMLS, 9diseasecard, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Finnish Type Amyloidosis, Aliases & Descriptions:

Name: Finnish Type Amyloidosis 8 44
Amyloidosis, Finnish Type 9 46
Amyloidosis, Hereditary, Transthyretin-Related 62
Familial Amyloid Polyneuropathy, Type V 62
Familial Amyloid Polyneuropathy Type 4 48
 
Hereditary Amyloidosis, Finnish Type 48
Familial Amyloidosis, Finnish Type 48
Amyloidosis, Meretoja Type 8
Gelsolin Amyloidosis 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Related Diseases for Finnish Type Amyloidosis

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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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Symptoms by clinical synopsis from OMIM:

105120

Clinical features from OMIM:

105120

HPO human phenotypes related to Finnish Type Amyloidosis:

(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 Finnish Type Amyloidosis

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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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MalaCards organs/tissues related to Finnish Type Amyloidosis:

32
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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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:

6
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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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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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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Compounds related to Finnish Type Amyloidosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1retinyl palmitate44 2410.5TTR, APOE
2thiamine44 2 24 1112.5APOE, TTR
3guanidine44 24 1111.5TTR, APOE
4vitamin b12449.5TTR, APOE
5betacarotene449.5APOE, TTR
6guanidine hydrochloride449.5APOE, TTR
7alpha tocopherol449.5TTR, APOE
8homocysteine44 2410.5APOE, TTR
9adenine44 24 1111.5APOE, TTR
10carbohydrates449.5APOE, TTR
11thyroxine44 2410.5TTR, APOE
12hyaluronic acid44 2410.5TTR, APOE
13folate449.4APOE, TTR
14trifluoroethanol44 1110.4GSN, TTR
15nicotine44 28 50 1112.4APOE, TTR
16valine449.4TTR, APOE
17vitamin a44 24 1111.4APOE, TTR
18guanine44 24 1111.4TTR, APOE
19aspirin44 50 28 2412.4APOE, TTR
20phospholipid449.3APOE, GSN
21retinoid449.3APOE, TTR
22phosphatidylserine44 28 1111.3TTR, GSN
23ascorbic acid44 2410.3TTR, APOE
24polyacrylamide449.2GSN, TTR
25methionine449.1GSN, TTR
26glutamine449.1APOE, TTR
27fibrinogen449.1GSN, TTR
28paraffin449.0APOE, TTR
29thioflavin t448.9TTR, GSN, APOE
30sodium dodecylsulfate448.9GSN, TTR, APOE
31vitamin d448.9TTR, APOE, GSN
32dopamine44 28 24 1111.9APOE, TTR, GSN
33aspartate448.9APOE, TTR, GSN
34testosterone44 61 24 1111.9GSN, TTR, APOE
35glutamate448.9GSN, APOE, TTR
36alanine448.9TTR, APOE, GSN
37cysteine448.9GSN, APOE, TTR
38cyclosporin a44 28 6110.8TTR, APOE
39serine448.8GSN, APOE, TTR

GO Terms for genes affiliated with Finnish Type Amyloidosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet