AMYL5
MCID: AMY084
MIFTS: 43

Amyloidosis, Finnish Type (AMYL5)

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

Aliases & Classifications for Amyloidosis, Finnish Type

MalaCards integrated aliases for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 57 13 40
Finnish Type Amyloidosis 12 76 75 55 15
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 57 75
Familial Amyloid Polyneuropathy Type Iv 59 75
Amyloidosis Due to Mutant Gelsolin 57 75
Lattice Corneal Dystrophy Type Ii 75 73
Amyloidosis, Meretoja Type 57 12
Gelsolin Amyloidosis 59 75
Amyloidosis V 57 75
Familial Amyloid Polyneuropathy, Type V 73
Hereditary Amyloidosis, Finnish Type 59
Familial Amyloidosis, Finnish Type 59
Familial Amyloidosis Finnish Type 75
Meretoja Type Amyloidosis 75
Amyloidosis, Familial 44
Meretoja Syndrome 73
Agel Amyloidosis 59
Amyloidosis 5 75
Amyl5 75
Agel 75

Characteristics:

Orphanet epidemiological data:

59
agel amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amyloidosis, finnish type:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 105120
Disease Ontology 12 DOID:0050637
Orphanet 59 ORPHA85448
UMLS via Orphanet 74 C0936273
ICD10 via Orphanet 34 E85.1
MeSH 44 D028226

Summaries for Amyloidosis, Finnish Type

OMIM : 57 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. 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. The drugs Ethanol and 2-Phenylethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are renal insufficiency and nephrotic syndrome

UniProtKB/Swiss-Prot : 75 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 : 76 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:

57
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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 nephrotic syndrome 32 HP:0000100
3 cutis laxa 32 HP:0000973
4 lattice corneal dystrophy 32 HP:0001149
5 polyneuropathy 32 HP:0001271
6 bulbar palsy 32 HP:0001283
7 abnormality of abdomen morphology 32 HP:0001438
8 cardiomyopathy 32 HP:0001638
9 generalized amyloid deposition 32 HP:0003216
10 cardiac amyloidosis 32 HP:0030843

Drugs & Therapeutics for Amyloidosis, Finnish Type

Drugs for Amyloidosis, Finnish Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
2-Phenylethanol Experimental Phase 4 60-12-8 6054
3 3,4-dihydroxyphenylethanol Phase 4
4 Anti-Infective Agents Phase 4
5 Anti-Infective Agents, Local Phase 4
6 Antioxidants Phase 4
7 Disinfectants Phase 4
8 Platelet Aggregation Inhibitors Phase 4
9 Protective Agents Phase 4
10
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
11 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Punicalagin and Hydroxytyrosol Mixture on Different Inflammatory Markers Completed NCT02042742 Phase 4
2 Ascending Single Dose Study of Rhu-pGelsolin in Patients With Decreased Gelsolin Levels Completed NCT00671307 Phase 1, Phase 2 rhu-pGelsolin;Placebo
3 A Phase 1b/2a Study of the Safety and Pharmacokinetics of Rhu-plasma Gelsolin in Hospitalized Subjects With CAP Not yet recruiting NCT03466073 Phase 1, Phase 2 Recombinant Human Plasma Gelsolin
4 Pioglitazone to Treat Adults Undergoing Surgery for Non-small Cell Lung Cancer Terminated NCT00923949 Phase 2 Pioglitazone

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:

41
Skin, Lung, Bone, Eye

Publications for Amyloidosis, Finnish Type

Articles related to Amyloidosis, Finnish Type:

(show all 17)
# Title Authors Year
1
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. ( 25444639 )
2015
2
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. ( 14639586 )
2003
3
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. ( 11753432 )
2002
4
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). ( 11226199 )
2001
5
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). ( 11222521 )
2001
6
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ( 9547007 )
1998
7
[Familial amyloidosis, Finnish type with marked anhidrosis]. ( 8741346 )
1996
8
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). ( 7868127 )
1995
9
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. ( 8107706 )
1994
10
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). ( 7836945 )
1994
11
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. ( 8243656 )
1993
12
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. ( 8383491 )
1993
13
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. ( 8395367 )
1993
14
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. ( 1322359 )
1992
15
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. ( 2157434 )
1990
16
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. ( 2162627 )
1990
17
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. ( 2176481 )
1990

Variations for Amyloidosis, Finnish Type

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

75
# 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_000177.4(GSN): c.640G> A (p.Asp214Asn) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819
3 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097
4 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819

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 region GO:0005576 9.33 APOE GSN TTR
2 extracellular space GO:0005615 9.13 APOE GSN TTR
3 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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