AMYL5
MCID: AMY084
MIFTS: 52

Amyloidosis, Finnish Type (AMYL5)

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

Aliases & Classifications for Amyloidosis, Finnish Type

MalaCards integrated aliases for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 58 13 41
Finnish Type Amyloidosis 12 77 76 56 15
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 58 76
Familial Amyloid Polyneuropathy Type Iv 60 76
Amyloidosis Due to Mutant Gelsolin 58 76
Lattice Corneal Dystrophy Type Ii 76 74
Amyloidosis, Meretoja Type 58 12
Gelsolin Amyloidosis 60 76
Amyloidosis V 58 76
Familial Amyloid Polyneuropathy, Type V 74
Hereditary Amyloidosis, Finnish Type 60
Familial Amyloidosis, Finnish Type 60
Familial Amyloidosis Finnish Type 76
Meretoja Type Amyloidosis 76
Amyloidosis, Familial 45
Meretoja Syndrome 74
Agel Amyloidosis 60
Amyloidosis 5 76
Amyl5 76
Agel 76

Characteristics:

Orphanet epidemiological data:

60
agel amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amyloidosis, finnish type:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050637
OMIM 58 105120
MeSH 45 D028226
ICD10 via Orphanet 35 E85.1
UMLS via Orphanet 75 C0936273
Orphanet 60 ORPHA85448

Summaries for Amyloidosis, Finnish Type

OMIM : 58 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 amyloidosis, hereditary, transthyretin-related, and has symptoms including cutis laxa and bilateral facial paralysis. An important gene associated with Amyloidosis, Finnish Type is GSN (Gelsolin), and among its related pathways/superpathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs Ethanol and 2-Phenylethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are renal insufficiency and cardiomyopathy

Disease Ontology : 12 An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has material basis in mutations in the gelsolin gene (GSN), and has symptoms corneal lattice dystrophy, has symptom bilateral facial paralysis, has symptom cutis laxa.

UniProtKB/Swiss-Prot : 76 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 : 77 Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal... more...

Related Diseases for Amyloidosis, Finnish Type

Diseases in the Amyloidosis, Finnish Type family:

Familial Amyloidosis, Finnish Type

Diseases related to Amyloidosis, Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, familial visceral 32.8 FGA GSN SAA1 TTR
2 amyloidosis, hereditary, transthyretin-related 32.7 GSN TTR
3 al amyloidosis 32.2 CST3 TTR
4 cerebral amyloid angiopathy, itm2b-related, 2 31.9 CST3 FURIN
5 hereditary amyloidosis 31.7 FGA FURIN GSN TTR
6 lattice corneal dystrophy 29.8 GSN TGFBI
7 amyloidosis aa 29.3 SAA1 TTR
8 amyloidosis 28.9 APOE CST3 FGA GSN SAA1 TGFBI
9 familial amyloidosis, finnish type 12.7
10 primary cutaneous amyloidosis 11.7
11 lattice corneal dystrophy type ii 11.4
12 familial mediterranean fever 11.4
13 amyloidosis, primary localized cutaneous, 1 11.3
14 cerebral amyloid angiopathy, itm2b-related, 1 11.1
15 muckle-wells syndrome 11.1
16 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.1
17 hereditary cerebral amyloid angiopathy 11.1
18 aapoaii amyloidosis 11.1
19 afib amyloidosis 11.1
20 aapoai amyloidosis 11.1
21 polyneuropathy 10.3
22 pediatric multiple sclerosis 10.3 GSN TTR
23 corneal dystrophy, lattice type i 10.2 GSN TGFBI
24 epithelial-stromal tgfbi dystrophy 10.2 GSN TGFBI
25 corneal dystrophy, gelatinous drop-like 10.2 GSN TGFBI
26 facial paralysis 10.2
27 carotenemia 10.2 APCS TTR
28 cataract 10.2
29 alzheimer disease 2 10.2 APOE SERPINA3
30 cutis laxa 10.1
31 corneal dystrophy, thiel-behnke type 10.1 GSN TGFBI
32 testicular yolk sac tumor 10.1 TTR SERPINA3
33 hemorrhage, intracerebral 9.9 APOE CST3
34 retinitis pigmentosa 9.9
35 sjogren syndrome 9.9
36 aging 9.9
37 leber congenital amaurosis 4 9.9
38 lymphoma 9.9
39 cutaneous t cell lymphoma 9.9
40 retinitis 9.9
41 vascular dementia 9.9 APOE CST3 SERPINA3
42 creutzfeldt-jakob disease 9.9 APOE CST3 SERPINA3
43 anhidrosis 9.9
44 neuropathy 9.9
45 splenic artery aneurysm 9.8 APCS SAA1
46 blepharochalasis 9.8 GSN SAA1 TTR
47 restrictive cardiomyopathy 9.8
48 lichen amyloidosis 9.8
49 corneal dystrophy 9.7
50 aortic aneurysm, familial abdominal, 1 9.7 CST3 APOE

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



Diseases related to Amyloidosis, Finnish Type

Symptoms & Phenotypes for Amyloidosis, Finnish Type

Human phenotypes related to Amyloidosis, Finnish Type:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 33 HP:0000083
2 cardiomyopathy 33 HP:0001638
3 nephrotic syndrome 33 HP:0000100
4 polyneuropathy 33 HP:0001271
5 bulbar palsy 33 HP:0001283
6 cutis laxa 33 HP:0000973
7 lattice corneal dystrophy 33 HP:0001149
8 generalized amyloid deposition 33 HP:0003216
9 abnormality of abdomen morphology 33 HP:0001438
10 cardiac amyloidosis 33 HP:0030843

Symptoms via clinical synopsis from OMIM:

58
G U:
nephrotic syndrome
renal failure

Skin:
cutis laxa

G I:
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

Symptoms:

12
  • cutis laxa
  • bilateral facial paralysis

MGI Mouse Phenotypes related to Amyloidosis, Finnish Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 APOE CST3 FGA FURIN GSN MMP14
2 homeostasis/metabolism MP:0005376 9.81 APCS APOE CST3 FGA GSN MMP14
3 hematopoietic system MP:0005397 9.8 APCS APOE FGA FURIN GSN MMP14
4 digestive/alimentary MP:0005381 9.72 APOE FGA FURIN MMP14 TTR
5 immune system MP:0005387 9.5 APCS APOE FGA FURIN GSN MMP14
6 mortality/aging MP:0010768 9.23 APCS APOE CST3 FGA FURIN GSN

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 Protective Agents Phase 4
4 Disinfectants Phase 4
5 3,4-dihydroxyphenylethanol Phase 4
6 Platelet Aggregation Inhibitors Phase 4
7 Anti-Infective Agents Phase 4
8 Anti-Infective Agents, Local Phase 4
9 Antioxidants 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 Completed 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
5 Early Diagnosis of Kidney Damage Associated With Tobacco Use Recruiting NCT03850756

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:

42
Skin, Eye, Lung, Kidney, Bone, T Cells, Testes

Publications for Amyloidosis, Finnish Type

Articles related to Amyloidosis, Finnish Type:

(show all 32)
# 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
Database for the mutations of the Finnish disease heritage. ( 11754099 )
2002
5
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). ( 11226199 )
2001
6
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). ( 11222521 )
2001
7
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ( 9547007 )
1998
8
[Familial amyloidosis, Finnish type with marked anhidrosis]. ( 8741346 )
1996
9
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). ( 7868127 )
1995
10
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. ( 7550233 )
1995
11
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. ( 8107706 )
1994
12
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). ( 7836945 )
1994
13
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. ( 8395367 )
1993
14
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. ( 8383491 )
1993
15
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. ( 8388189 )
1993
16
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. ( 8243656 )
1993
17
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. ( 1322359 )
1992
18
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. ( 1322360 )
1992
19
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. ( 1311149 )
1992
20
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. ( 1315718 )
1992
21
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. ( 1658654 )
1991
22
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. ( 1848334 )
1991
23
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. ( 1652889 )
1991
24
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. ( 2176550 )
1990
25
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. ( 2176481 )
1990
26
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. ( 2162627 )
1990
27
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. ( 2157434 )
1990
28
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. ( 2153578 )
1990
29
Mutation in gelsolin gene in Finnish hereditary amyloidosis. ( 2175344 )
1990
30
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). ( 6610849 )
1983
31
Three forms of dominant amyloid neuropathy. ( 6975851 )
1981
32
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. ( 4543600 )
1973

Variations for Amyloidosis, Finnish Type

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

76
# 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_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819
2 GSN NM_001127666.1(GSN): c.520G> T (p.Asp174Tyr) single nucleotide variant Pathogenic rs121909715 GRCh37 Chromosome 9, 124073097: 124073097
3 GSN NM_000177.4(GSN): c.640G> A (p.Asp214Asn) single nucleotide variant Pathogenic rs121909715 GRCh38 Chromosome 9, 121310819: 121310819
4 GSN NM_000177.4(GSN): c.640G> A (p.Asp214Asn) 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.

Pathways for Amyloidosis, Finnish Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 APCS CST3 FGA FURIN GSN SAA1
2
Show member pathways
12.64 APCS CST3 FGA FURIN GSN SAA1
3
Show member pathways
12.11 FGA FURIN MMP14 TTR
4
Show member pathways
11.77 APOE SAA1 SERPINA3

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 9.85 APCS APOE CST3 FGA FURIN GSN
2 collagen-containing extracellular matrix GO:0062023 9.72 APCS APOE FGA SERPINA3 TGFBI
3 extracellular matrix GO:0031012 9.65 APOE MMP14 TGFBI
4 blood microparticle GO:0072562 9.65 APCS APOE FGA GSN SERPINA3
5 extracellular exosome GO:0070062 9.65 APCS APOE CST3 FGA FURIN GSN
6 endoplasmic reticulum lumen GO:0005788 9.61 APOE CST3 FGA
7 extracellular vesicle GO:1903561 9.46 APOE FGA
8 high-density lipoprotein particle GO:0034364 9.4 APOE SAA1
9 endocytic vesicle lumen GO:0071682 9.37 APOE SAA1
10 extracellular space GO:0005615 9.36 APCS APOE CST3 FGA FURIN GSN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.76 CST3 GSN SERPINA3 TTR
2 negative regulation of endopeptidase activity GO:0010951 9.58 CST3 FURIN SERPINA3
3 retinoid metabolic process GO:0001523 9.51 APOE TTR
4 protein processing GO:0016485 9.49 FURIN MMP14
5 collagen catabolic process GO:0030574 9.48 FURIN MMP14
6 extracellular matrix organization GO:0030198 9.46 FGA FURIN TGFBI TTR
7 negative regulation of viral entry into host cell GO:0046597 9.43 APCS GSN
8 extracellular matrix disassembly GO:0022617 9.43 FURIN GSN MMP14
9 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.37 APOE FURIN
10 zymogen activation GO:0031638 9.32 FURIN MMP14
11 cellular protein metabolic process GO:0044267 9.28 APCS APOE CST3 FGA FURIN GSN
12 acute-phase response GO:0006953 9.13 APCS SAA1 SERPINA3

Sources for Amyloidosis, Finnish Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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