MCID: FNN001
MIFTS: 41

Finnish Type Amyloidosis malady

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

Summaries for Finnish Type Amyloidosis

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OMIM:46 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including...105120 more...

MalaCards based summary: Finnish Type Amyloidosis, also known as amyloidosis, finnish type, is related to amyloidosis and hereditary amyloidosis, and has symptoms including autosomal dominant inheritance, renal insufficiency and nephrotic syndrome. 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.

Wikipedia:64 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

Aliases & Classifications for Finnish Type Amyloidosis

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Sources:
9Disease Ontology, 44Novoseek, 61UMLS, 10diseasecard, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

Finnish Type Amyloidosis, Aliases & Descriptions:

Name: Finnish Type Amyloidosis 9 44
Amyloidosis, Finnish Type 10 46
Amyloidosis, Hereditary, Transthyretin-Related 61
Familial Amyloid Polyneuropathy, Type V 61
Familial Amyloid Polyneuropathy Type 4 48
 
Hereditary Amyloidosis, Finnish Type 48
Familial Amyloidosis, Finnish Type 48
Amyloidosis, Meretoja Type 9
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 Ontology9 DOID:0050637
OMIM46 105120
ICD10 via Orphanet27 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:

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Clinical features from OMIM:

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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:

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

Clinvar genetic disease variations for Finnish Type Amyloidosis:

7
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 2510.5APOE, TTR
2thiamine44 3 25 1212.5TTR, APOE
3guanidine44 25 1211.5TTR, APOE
4vitamin b12449.5TTR, APOE
5betacarotene449.5APOE, TTR
6guanidine hydrochloride449.5APOE, TTR
7alpha tocopherol449.5APOE, TTR
8homocysteine44 2510.5TTR, APOE
9adenine44 25 1211.5APOE, TTR
10carbohydrates449.5APOE, TTR
11thyroxine44 2510.5TTR, APOE
12hyaluronic acid44 2510.5APOE, TTR
13folate449.4APOE, TTR
14trifluoroethanol44 1210.4TTR, GSN
15nicotine44 29 50 1212.4TTR, APOE
16valine449.4APOE, TTR
17vitamin a44 25 1211.4APOE, TTR
18guanine44 25 1211.4TTR, APOE
19aspirin44 50 29 2512.4APOE, TTR
20phospholipid449.3GSN, APOE
21retinoid449.3TTR, APOE
22phosphatidylserine44 29 1211.3GSN, TTR
23ascorbic acid44 2510.3APOE, TTR
24polyacrylamide449.2GSN, TTR
25methionine449.1TTR, GSN
26glutamine449.1APOE, TTR
27fibrinogen449.1GSN, TTR
28paraffin449.0TTR, APOE
29thioflavin t448.9GSN, APOE, TTR
30sodium dodecylsulfate448.9GSN, APOE, TTR
31vitamin d448.9TTR, APOE, GSN
32dopamine44 29 25 1211.9GSN, APOE, TTR
33aspartate448.9GSN, APOE, TTR
34testosterone44 60 25 1211.9GSN, APOE, TTR
35glutamate448.9TTR, APOE, GSN
36alanine448.9GSN, APOE, TTR
37cysteine448.9TTR, APOE, GSN
38cyclosporin a44 29 6010.8APOE, TTR
39serine448.8TTR, APOE, GSN

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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Finnish Type Amyloidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet