MCID: AMY084
MIFTS: 40

Amyloidosis, Finnish Type

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

Aliases & Classifications for Amyloidosis, Finnish Type

MalaCards integrated aliases for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 53 13
Finnish Type Amyloidosis 12 72 71 51 14
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 53 71
Familial Amyloid Polyneuropathy Type Iv 55 71
Amyloidosis Due to Mutant Gelsolin 53 71
Lattice Corneal Dystrophy Type Ii 71 69
Amyloidosis, Meretoja Type 53 12
Gelsolin Amyloidosis 55 71
Amyloidosis V 53 71
Familial Amyloid Polyneuropathy, Type V 69
Hereditary Amyloidosis, Finnish Type 55
Familial Amyloidosis, Finnish Type 55
Familial Amyloidosis Finnish Type 71
Meretoja Type Amyloidosis 71
Amyloidosis, Familial 41
Meretoja Syndrome 69
Agel Amyloidosis 55
Amyloidosis 5 71
Amyl5 71
Agel 71

Characteristics:

Orphanet epidemiological data:

55
agel amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
amyloidosis, finnish type:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 105120
Disease Ontology 12 DOID:0050637
Orphanet 55 ORPHA85448
UMLS via Orphanet 70 C0936273
ICD10 via Orphanet 33 E85.1
MeSH 41 D028226

Summaries for Amyloidosis, Finnish Type

OMIM : 53 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). (105120)

MalaCards based summary : Amyloidosis, Finnish Type, also known as finnish type amyloidosis, is related to amyloidosis, familial visceral and hereditary amyloidosis, and has symptoms including renal insufficiency, cardiomyopathy and nephrotic syndrome. An important gene associated with Amyloidosis, Finnish Type is GSN (Gelsolin), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

Related Diseases for Amyloidosis, Finnish Type

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



Diseases related to Amyloidosis, Finnish Type

Symptoms & Phenotypes for Amyloidosis, Finnish Type

Symptoms via clinical synopsis from OMIM:

53
GU:
nephrotic syndrome
renal failure

Skin:
cutis laxa

GI:
gastrointestinal symptoms are inconstant

Misc:
onset in third decade

Neuro:
bulbar palsy
cranial neuropathy, esp. facial paresis
peripheral polyneuropathy, esp. vibration and touch loss
autonomic dysfunction does not occur

Eye:
lattice corneal dystrophy

Cardiac:
amyloid cardiomyopathy

Lab:
generalized amyloid deposition
mutant gelsolin gene (137350)


Clinical features from OMIM:

105120

Human phenotypes related to Amyloidosis, Finnish Type:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 HP:0000083
2 cardiomyopathy 31 HP:0001638
3 nephrotic syndrome 31 HP:0000100
4 polyneuropathy 31 HP:0001271
5 bulbar palsy 31 HP:0001283
6 cutis laxa 31 HP:0000973
7 lattice corneal dystrophy 31 HP:0001149
8 generalized amyloid deposition 31 HP:0003216
9 abnormality of abdomen morphology 31 HP:0001438
10 cardiac amyloidosis 31 HP:0030843

Drugs & Therapeutics for Amyloidosis, Finnish Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ascending Single Dose Study of Rhu-pGelsolin in Patients With Decreased Gelsolin Levels Completed NCT00671307 Phase 1, Phase 2 rhu-pGelsolin;Placebo

Search NIH Clinical Center for Amyloidosis, Finnish Type

Cochrane evidence based reviews: amyloidosis, familial

Genetic Tests for Amyloidosis, Finnish Type

Anatomical Context for Amyloidosis, Finnish Type

MalaCards organs/tissues related to Amyloidosis, Finnish Type:

38
Skin, Bone, Eye

Publications for Amyloidosis, Finnish Type

Articles related to Amyloidosis, Finnish Type:

(show all 20)
# Title Authors Year
1
Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report. ( 27217609 )
2016
2
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. ( 25444639 )
2015
3
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. ( 14639586 )
2003
4
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. ( 11753432 )
2002
5
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). ( 11222521 )
2001
6
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). ( 11226199 )
2001
7
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ( 9547007 )
1998
8
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. ( 8684801 )
1996
9
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). ( 7868127 )
1995
10
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. ( 8107706 )
1994
11
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). ( 7836945 )
1994
12
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. ( 8243656 )
1993
13
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. ( 8395367 )
1993
14
Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. ( 8145387 )
1993
15
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. ( 8383491 )
1993
16
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. ( 1322359 )
1992
17
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. ( 2162627 )
1990
18
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. ( 2176550 )
1990
19
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. ( 2176481 )
1990
20
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. ( 2157434 )
1990

Variations for Amyloidosis, Finnish Type

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

71
# Symbol AA change Variation ID SNP ID
1 GSN p.Asp214Asn VAR_007718 rs121909715
2 GSN p.Asp214Tyr VAR_007719 rs121909715

ClinVar genetic disease variations for Amyloidosis, Finnish Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSN NM_000177.4(GSN): c.640G> A (p.Asp214Asn) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097
2 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097

Expression for Amyloidosis, Finnish Type

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

GO Terms for Amyloidosis, Finnish Type

Cellular components related to Amyloidosis, Finnish Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.13 APOE GSN TTR
2 blood microparticle GO:0072562 8.62 APOE GSN

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 8.96 APOE TTR
2 cellular protein metabolic process GO:0044267 8.8 APOE GSN TTR

Sources for Amyloidosis, Finnish Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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