MCID: AMY084
MIFTS: 35

Amyloidosis, Finnish Type malady

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyloidosis, Finnish Type

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Aliases & Descriptions for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 49 11
Finnish Type Amyloidosis 10 47 12 67
Lattice Corneal Dystrophy Type Ii 67 65
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 67
Familial Amyloid Polyneuropathy, Type Iv 65
Familial Amyloid Polyneuropathy Type Iv 67
Familial Amyloid Polyneuropathy, Type V 65
Amyloidosis Due to Mutant Gelsolin 67
Familial Amyloidosis Finnish Type 67
 
Amyloidosis, Meretoja Type 10
Meretoja Type Amyloidosis 67
Gelsolin Amyloidosis 67
Meretoja Syndrome 65
Amyloidosis 5 67
Amyloidosis V 67
Amyl5 67
Agel 67

Characteristics:

HPO:

61
amyloidosis, finnish type:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 105120
Disease Ontology10 DOID:0050637
MeSH36 D028226
UMLS65 C0155127, C1622345, C0936273 C1628319, more

Summaries for Amyloidosis, Finnish Type

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OMIM:49 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including... (105120) more...

MalaCards based summary: Amyloidosis, Finnish Type, also known as finnish type amyloidosis, is related to familial amyloidosis, finnish type and lattice corneal dystrophy type ii, and has symptoms including generalized amyloid deposition, cardiomyopathy and abnormality of the abdomen. An important gene associated with Amyloidosis, Finnish Type is GSN (Gelsolin), and among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. Affiliated tissues include skin, endothelial and breast.

UniProtKB/Swiss-Prot:67 Amyloidosis 5: A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.

Related Diseases for Amyloidosis, Finnish Type

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Graphical network of the top 20 diseases related to Amyloidosis, Finnish Type:



Diseases related to amyloidosis, finnish type

Symptoms for Amyloidosis, Finnish Type

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Symptoms by clinical synopsis from OMIM:

105120

Clinical features from OMIM:

105120

HPO human phenotypes related to Amyloidosis, Finnish Type:

(show all 9)
id Description Frequency HPO Source Accession
1 generalized amyloid deposition HP:0003216
2 cardiomyopathy HP:0001638
3 abnormality of the abdomen HP:0001438
4 bulbar palsy HP:0001283
5 polyneuropathy HP:0001271
6 lattice corneal dystrophy HP:0001149
7 cutis laxa HP:0000973
8 nephrotic syndrome HP:0000100
9 renal insufficiency HP:0000083

Drugs & Therapeutics for Amyloidosis, Finnish Type

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ascending Single Dose Study of Rhu-pGelsolin in Patients With Decreased Gelsolin LevelsCompletedNCT00671307Phase 1, Phase 2

Search NIH Clinical Center for Amyloidosis, Finnish Type

Genetic Tests for Amyloidosis, Finnish Type

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Genetic tests related to Amyloidosis, Finnish Type:

id Genetic test Affiliating Genes
1 Amyloidosis V22 GSN

Anatomical Context for Amyloidosis, Finnish Type

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MalaCards organs/tissues related to Amyloidosis, Finnish Type:

33
Skin, Endothelial, Breast, Lung

Animal Models for Amyloidosis, Finnish Type or affiliated genes

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Publications for Amyloidosis, Finnish Type

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Articles related to Amyloidosis, Finnish Type:

(show all 16)
idTitleAuthorsYear
1
An OMERACT reliability exercise of inflammatory and structural abnormalities in patients with knee osteoarthritis using ultrasound assessment. (25902788)
2015
2
Medical and Surgical Management of Congenital Laryngomalacia: A Case-control Study. (24972709)
2014
3
Extra-axial Hodgkin's lymphoma with bony hyperostosis mimicking meningioma. (21414788)
2011
4
Brown-Sequard syndrome after thoracic endovascular aortic repair. (19833642)
2010
5
Sleep habits and susceptibility to the common cold. (19139325)
2009
6
No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. (19581269)
2009
7
Inhibition of IGF-I receptor in anchorage-independence attenuates GSK-3beta constitutive phosphorylation and compromises growth and survival of medulloblastoma cell lines. (17016438)
2007
8
Gastrointestinal histoplasmosis in the acquired immunodeficiency syndrome: report of 18 cases and literature review. (16545932)
2006
9
Ganoderma lucidum polysaccharides peptide inhibits the growth of vascular endothelial cell and the induction of VEGF in human lung cancer cell. (16269156)
2006
10
Identification of oxidized methionine sites in erythrocyte membrane protein by liquid chromatography/electrospray ionization mass spectrometry peptide mapping. (17002311)
2006
11
Plasma lipoproteins, hemostasis and thrombosis. (11487028)
2001
12
Maternal plasma level of thrombomodulin is increased in mild preeclampsia. (7641965)
1995
13
Experimental chemoendocrine therapy of human breast carcinoma xenograft serially transplanted into nude mice]. (7910941)
1994
14
Posttranscriptional regulation of the expression of CAD gene during differentiation of F9 teratocarcinoma cells by induction with retinoic acid and dibutyryl cyclic AMP. (2896607)
1988
15
Coronary vessel disease and coronary thrombosis. (13076714)
1953
16
The correction of presbyopia. (18874358)
1948

Variations for Amyloidosis, Finnish Type

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Finnish Type:

67
id Symbol AA change Variation ID SNP ID
1GSNp.Asp214AsnVAR_007718
2GSNp.Asp214TyrVAR_007719

Clinvar genetic disease variations for Amyloidosis, Finnish Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GSNNM_001127666.1(GSN): c.520G> A (p.Asp174Asn)single nucleotide variantPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097
2GSNNM_001127666.1(GSN): c.520G> T (p.Asp174Tyr)single nucleotide variantPathogenicrs121909715GRCh37Chr 9, 124073097: 124073097

Expression for genes affiliated with Amyloidosis, Finnish Type

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Search GEO for disease gene expression data for Amyloidosis, Finnish Type.

Pathways for genes affiliated with Amyloidosis, Finnish Type

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GO Terms for genes affiliated with Amyloidosis, Finnish Type

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Biological processes related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1retinoid metabolic processGO:00015239.1APOE, TTR
2phototransduction, visible lightGO:00076039.1APOE, TTR

Sources for Amyloidosis, Finnish Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet