Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
AMYL5
MCID: AMY084
MIFTS: 51

Amyloidosis, Finnish Type (AMYL5)

Categories: Bone diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Amyloidosis, Finnish Type

About this section

MalaCards integrated aliases for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 57 36 13 39
Finnish Type Amyloidosis 12 73 72 54 15
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 57 72
Familial Amyloid Polyneuropathy Type Iv 58 72
Amyloidosis Due to Mutant Gelsolin 57 72
Lattice Corneal Dystrophy Type Ii 72 70
Amyloidosis, Meretoja Type 57 12
Gelsolin Amyloidosis 58 72
Amyloidosis V 57 72
Familial Amyloid Polyneuropathy, Type V 70
Hereditary Amyloidosis, Finnish Type 58
Familial Amyloidosis, Finnish Type 58
Familial Amyloidosis Finnish Type 72
Meretoja Type Amyloidosis 72
Amyloidosis Finnish Type 6
Amyloidosis, Familial 44
Meretoja Syndrome 70
Agel Amyloidosis 58
Amyloidosis 5 72
Amyl5 72
Agel 72

Characteristics:

Orphanet epidemiological data:

58
agel amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0050637
OMIM® 57 105120
KEGG 36 H02322
MeSH 44 D028226
ICD10 via Orphanet 33 E85.1
UMLS via Orphanet 71 C0936273
Orphanet 58 ORPHA85448
UMLS 70 C0155127 C1622345 C1628319
Sources

Summaries for Amyloidosis, Finnish Type

About this section
OMIM® : 57 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal 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) (Updated 20-May-2021)

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 cutis laxa, corneal lattice dystrophy and bilateral facial paralysis. An important gene associated with Amyloidosis, Finnish Type is GSN (Gelsolin). The drugs Diflunisal and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and liver, and related phenotypes are cardiomyopathy and polyneuropathy

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.

KEGG : 36 Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice cornea1 dystrophy, progressive cranial neuropathy and systemic amyloid deposits.

UniProtKB/Swiss-Prot : 72 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 : 73 Lattice corneal dystrophy type, is a rare form of corneal dystrophy. It has no systemic manifestations,... more...

Sources

Related Diseases for Amyloidosis, Finnish Type

About this section

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 120)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, familial visceral 32.0 TTR GSN APOE APCS
2 hereditary amyloidosis 31.1 TTR GSN FURIN
3 corneal dystrophy, gelatinous drop-like 30.6 TGFBI GSN
4 facial paralysis 30.4 GSN DCAF8
5 amyloid neuropathy 30.4 TTR GSN
6 corneal dystrophy 30.2 TGFBI GSN APOE
7 polyneuropathy 30.2 TTR GSN APCS
8 blepharochalasis 30.1 TTR SERPINA3 GSN
9 amyloidosis, hereditary, transthyretin-related 29.9 TTR GSN APCS
10 peripheral nervous system disease 29.8 U2AF1 TTR SERPINA3 KDM4C DCAF8
11 cerebral amyloid angiopathy, cst3-related 29.7 TTR SERPINA3 GSN FURIN APOE
12 amyloidosis 29.7 TTR TGFBI SERPINA3 GSN FURIN APOE
13 eye disease 29.3 U2AF1 TGFBI SERPINA3 KDM4C
14 familial amyloidosis, finnish type 11.7
15 lattice corneal dystrophy type ii 11.4
16 primary cutaneous amyloidosis 11.3
17 amyloidosis, primary localized cutaneous, 1 11.2
18 autonomic peripheral neuropathy 10.3 TTR GSN
19 asymmetric motor neuropathy 10.3 TTR GSN
20 pediatric multiple sclerosis 10.3 TTR GSN
21 median neuropathy 10.3 TTR DCAF8
22 recurrent corneal erosion 10.3
23 mononeuropathy 10.3 TTR DCAF8
24 facial nerve disease 10.3 GSN DCAF8
25 testicular yolk sac tumor 10.2 TTR SERPINA3
26 corneal dystrophy, lattice type i 10.2 TGFBI GSN
27 heart cancer 10.2 SERPINA3 APOE
28 arteriolosclerosis 10.2 SERPINA3 APOE
29 alzheimer disease 2 10.2 SERPINA3 APOE
30 non-langerhans-cell histiocytosis 10.2 U2AF1 SERPINA3
31 cerebral atherosclerosis 10.2 SERPINA3 APOE
32 meckel syndrome, type 2 10.2 U2AF1 DCAF8
33 epithelial and subepithelial dystrophy 10.2 TGFBI GSN
34 cataract 10.2
35 ataxia and polyneuropathy, adult-onset 10.2
36 communicating hydrocephalus 10.1 SERPINA3 APOE
37 carotenemia 10.1 TTR APCS
38 cerebral amyloid angiopathy, itm2b-related, 2 10.1 SERPINA3 FURIN
39 fainting 10.1
40 normal pressure hydrocephalus 10.1 TTR SERPINA3 APOE
41 lattice corneal dystrophy 10.1
42 nerve compression syndrome 10.1 TTR APCS
43 muscle tissue disease 10.1 U2AF1 SERPINA3 DCAF8
44 cerebral amyloid angiopathy, itm2b-related, 1 10.1 SERPINA3 GSN FURIN
45 epithelial-stromal tgfbi dystrophy 10.1 TGFBI GSN
46 muscular disease 10.1 U2AF1 SERPINA3 DCAF8
47 inherited metabolic disorder 10.1 SERPINA3 KDM4C APOE
48 suppression of tumorigenicity 12 10.0 U2AF1 SERPINA3 KDM4C
49 proteinuria, chronic benign 10.0
50 leukocyte disease 10.0 U2AF1 SERPINA3 KDM4C

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



Diseases related to Amyloidosis, Finnish Type
Sources

Symptoms & Phenotypes for Amyloidosis, Finnish Type

About this section

Human phenotypes related to Amyloidosis, Finnish Type:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiomyopathy 58 31 Occasional (29-5%) HP:0001638
2 polyneuropathy 58 31 Frequent (79-30%) HP:0001271
3 cutis laxa 58 31 Frequent (79-30%) HP:0000973
4 lattice corneal dystrophy 58 31 Very frequent (99-80%) HP:0001149
5 depressivity 58 Very rare (<4-1%)
6 ataxia 58 Frequent (79-30%)
7 dysarthria 58 Occasional (29-5%)
8 sleep apnea 58 Occasional (29-5%)
9 facial palsy 58 Frequent (79-30%)
10 hearing impairment 58 Frequent (79-30%)
11 cataract 58 Frequent (79-30%)
12 visual impairment 58 Frequent (79-30%)
13 proteinuria 58 Occasional (29-5%)
14 renal insufficiency 31 HP:0000083
15 dry skin 58 Very frequent (99-80%)
16 bulbar signs 58 Very rare (<4-1%)
17 nephrotic syndrome 31 HP:0000100
18 arrhythmia 58 Frequent (79-30%)
19 glaucoma 58 Occasional (29-5%)
20 hypotrichosis 58 Occasional (29-5%)
21 abnormality of the eye 58 Very frequent (99-80%)
22 bruising susceptibility 58 Frequent (79-30%)
23 abnormality of the nervous system 58 Frequent (79-30%)
24 keratoconjunctivitis sicca 58 Very frequent (99-80%)
25 corneal ulceration 58 Frequent (79-30%)
26 pruritus 58 Occasional (29-5%)
27 nail dystrophy 58 Very rare (<4-1%)
28 constrictive median neuropathy 58 Frequent (79-30%)
29 respiratory tract infection 58 Very rare (<4-1%)
30 edema 58 Frequent (79-30%)
31 xerostomia 58 Frequent (79-30%)
32 orthostatic hypotension due to autonomic dysfunction 58 Occasional (29-5%)
33 diffuse skin atrophy 58 Occasional (29-5%)
34 stage 5 chronic kidney disease 58 Very rare (<4-1%)
35 bulbar palsy 31 HP:0001283
36 cardiac amyloidosis 31 HP:0030843
37 bilateral ptosis 58 Very frequent (99-80%)
38 myokymia 58 Frequent (79-30%)
39 tongue atrophy 58 Occasional (29-5%)
40 deficit in phonologic short-term memory 58 Very rare (<4-1%)
41 regional abnormality of skin 58 Frequent (79-30%)
42 blepharochalasis 58 Occasional (29-5%)
43 dermatological manifestations of systemic disorders 58 Very frequent (99-80%)
44 abnormal spleen morphology 58 Occasional (29-5%)
45 distal peripheral sensory neuropathy 58 Frequent (79-30%)
46 abnormal abdomen morphology 31 HP:0001438
47 generalized amyloid deposition 31 HP:0003216

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
nephrotic syndrome
renal failure

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

Lab:
generalized amyloid deposition
mutant gelsolin gene (137350)

Cardiac:
amyloid cardiomyopathy

Skin:
cutis laxa

Eye:
lattice corneal dystrophy

G I:
gastrointestinal symptoms are inconstant

Misc:
onset in third decade

Clinical features from OMIM®:

105120 (Updated 20-May-2021)

Symptoms:

12
  • • cutis laxa
  • • corneal lattice dystrophy
  • • bilateral facial paralysis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.32 DCAF8 KDM4C
2 Decreased viability after Maraba virus infection GR00252-A-2 9.32 DCAF8 KDM4C MMP14 RAD54L2
3 Decreased viability after Maraba virus infection GR00252-A-3 9.32 DCAF8 KDM4C MMP14 RAD54L2

MGI Mouse Phenotypes related to Amyloidosis, Finnish Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 APCS APOE DCAF8 GSN KDM4C MMP14
2 immune system MP:0005387 9.61 APCS APOE DCAF8 FURIN GSN KDM4C
3 integument MP:0010771 9.17 APOE FURIN GSN KDM4C MMP14 SERPINA3
Sources

Drugs & Therapeutics for Amyloidosis, Finnish Type

About this section

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Liver Extracts Phase 3
3 Antirheumatic Agents Phase 2, Phase 3
4 Cyclooxygenase Inhibitors Phase 2, Phase 3
5 Anti-Inflammatory Agents Phase 2, Phase 3
6 Analgesics, Non-Narcotic Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Analgesics Phase 2, Phase 3
9
Calcium polycarbophil Approved 126040-58-2
10 Psyllium
11 Plantain
12 Cathartics
13 Gastrointestinal Agents
14 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate Safety, Efficacy and Pharmacokinetics (PK) of Patisiran-LNP in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) With Disease Progression Post-Orthotopic Liver Transplant Completed NCT03862807 Phase 3 Patisiran
2 A Phase 3 Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALN TTRSC in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3 Revusiran (ALN-TTRSC);Sterile Normal Saline (0.9% NaCl)
3 APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Patisiran (ALN-TTR02) in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP) Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
4 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
5 HELIOS-A: A Phase 3 Global, Randomized, Open-label Study to Evaluate the Efficacy and Safety of ALN-TTRSC02 in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Active, not recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
6 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study Unknown status NCT03068156
7 Expanded Access Program for Inotersen (ISIS 420915) in Patients With Hereditary Transthyretin Amyloidosis (hATTR) Approved for marketing NCT03400098 Inotersen
8 Expanded Access Protocol of Patisiran for Patients With Hereditary Transthyretin-Mediated Amyloidosis (hATTR Amyloidosis) With Polyneuropathy Approved for marketing NCT02939820 patisiran (ALN-TTR02)
9 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers Completed NCT01604122
10 Effect of Psyllium (Plantago Ovata) on Digestive Disorders in Familial Amyloidosis Not yet recruiting NCT04695340

Search NIH Clinical Center for Amyloidosis, Finnish Type

Cochrane evidence based reviews: amyloidosis, familial

Sources

Genetic Tests for Amyloidosis, Finnish Type

About this section
Sources

Anatomical Context for Amyloidosis, Finnish Type

About this section

MalaCards organs/tissues related to Amyloidosis, Finnish Type:

40
Eye, Skin, Liver, Spleen, Heart, Kidney, Tongue
Sources

Publications for Amyloidosis, Finnish Type

About this section

Articles related to Amyloidosis, Finnish Type:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. 57 6 61
1322359 1992
2
Database for the mutations of the Finnish disease heritage. 57 6
11754099 2002
3
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. 6 57
1315718 1992
4
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. 6 57
1311149 1992
5
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. 6 57
2153578 1990
6
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). 57 6
6610849 1983
7
Three forms of dominant amyloid neuropathy. 57 6
6975851 1981
8
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. 6 57
4543600 1973
9
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). 61 6 54
7868127 1995
10
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. 57 54 61
8395367 1993
11
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. 6 61 54
2176481 1990
12
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. 54 61 57
2162627 1990
13
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. 61 6
7550233 1995
14
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). 61 57
7836945 1994
15
Mutation in gelsolin gene in Finnish hereditary amyloidosis. 61 6
2175344 1990
16
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. 57
8684801 1996
17
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. 6
8388189 1993
18
Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. 57
1333716 1992
19
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. 6
1322360 1992
20
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. 6
1658654 1991
21
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. 6
1652889 1991
22
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). 57
1923356 1991
23
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. 6
1848334 1991
24
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. 57
2176164 1990
25
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. 6
2176550 1990
26
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. 57
3513049 1986
27
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. 57
228009 1979
28
Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis. 57
305513 1978
29
[An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy]. 57
4109360 1971
30
Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. 57
4163628 1967
31
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). 54 61
11226199 2001
32
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. 61 54
10729296 2000
33
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis. 61 54
9632693 1998
34
Apolipoprotein E increases the fibrillogenic potential of synthetic peptides derived from Alzheimer's, gelsolin and AA amyloids. 54 61
7672107 1995
35
Immunohistochemical analysis of lattice corneal dystrophies types I and II. 61 54
8110676 1993
36
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. 61 54
8243656 1993
37
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. 61 54
1338910 1992
38
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. 61 54
2157434 1990
39
The role of gelsolin domain 3 in familial amyloidosis (Finnish type). 61
31243148 2019
40
Selective and Sensitive Pull Down of Amyloid Fibrils Produced in Vitro and in Vivo by the Use of Pentameric-Thiophene-Coupled Resins. 61
29762014 2018
41
Non-Invasive Imaging of Amyloid Deposits in a Mouse Model of AGel Using 99mTc-Modified Nanobodies and SPECT/CT. 61
27130233 2016
42
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. 61
25444639 2015
43
Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin. 61
19666512 2009
44
Corneal melt in lattice corneal dystrophy type II after cataract surgery. 61
19101443 2009
45
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. 61
14639586 2003
46
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. 61
11753432 2002
47
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). 61
11222521 2001
48
Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2. 61
10995458 2000
49
Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type. 61
10500162 1999
50
Gelsolin-related spinal and cerebral amyloid angiopathy. 61
10072044 1999
Sources

Variations for Amyloidosis, Finnish Type

About this section

ClinVar genetic disease variations for Amyloidosis, Finnish Type:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSN NM_198252.3(GSN):c.487G>A (p.Asp163Asn) SNV Pathogenic 16180 rs121909715 GRCh37: 9:124073097-124073097
GRCh38: 9:121310819-121310819
2 GSN NM_198252.3(GSN):c.1192-1G>A SNV Pathogenic 1031449 GRCh37: 9:124083545-124083545
GRCh38: 9:121321267-121321267
3 GSN NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) SNV Pathogenic 16181 rs121909715 GRCh37: 9:124073097-124073097
GRCh38: 9:121310819-121310819
4 GSN NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) SNV Uncertain significance 984957 GRCh37: 9:124083678-124083678
GRCh38: 9:121321400-121321400
5 GSN NM_198252.3(GSN):c.-9-2137C>T SNV Uncertain significance 364794 rs886063404 GRCh37: 9:124062104-124062104
GRCh38: 9:121299826-121299826
6 GSN NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) SNV Uncertain significance 364807 rs372681751 GRCh37: 9:124081004-124081004
GRCh38: 9:121318726-121318726
7 GSN NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys) SNV Uncertain significance 364828 rs886063407 GRCh37: 9:124093702-124093702
GRCh38: 9:121331424-121331424
8 GSN NM_001127666.2(GSN):c.*205G>A SNV Uncertain significance 364843 rs779431879 GRCh37: 9:124095086-124095086
GRCh38: 9:121332808-121332808
9 GSN NM_001127666.2(GSN):c.-47-114G>A SNV Uncertain significance 364795 rs886063405 GRCh37: 9:124062220-124062220
GRCh38: 9:121299942-121299942
10 GSN NM_001127666.2(GSN):c.579T>G (p.Asn193Lys) SNV Uncertain significance 364804 rs752698745 GRCh37: 9:124074649-124074649
GRCh38: 9:121312371-121312371
11 GSN NM_001127666.2(GSN):c.*185G>A SNV Uncertain significance 364841 rs757682798 GRCh37: 9:124095066-124095066
GRCh38: 9:121332788-121332788
12 GSN NM_001127666.2(GSN):c.1586G>A (p.Arg529His) SNV Uncertain significance 364819 rs769400986 GRCh37: 9:124088926-124088926
GRCh38: 9:121326648-121326648
13 GSN NM_001127666.2(GSN):c.*28G>A SNV Uncertain significance 915197 GRCh37: 9:124094909-124094909
GRCh38: 9:121332631-121332631
14 GSN NM_001127666.2(GSN):c.30C>G (p.Asn10Lys) SNV Uncertain significance 915114 GRCh37: 9:124064246-124064246
GRCh38: 9:121301968-121301968
15 GSN NM_001127666.2(GSN):c.1031G>T (p.Gly344Val) SNV Uncertain significance 913915 GRCh37: 9:124080965-124080965
GRCh38: 9:121318687-121318687
16 GSN NM_001127666.2(GSN):c.947A>G (p.Lys316Arg) SNV Uncertain significance 913914 GRCh37: 9:124080711-124080711
GRCh38: 9:121318433-121318433
17 GSN NM_001127666.2(GSN):c.919+12A>C SNV Uncertain significance 913913 GRCh37: 9:124079508-124079508
GRCh38: 9:121317230-121317230
18 GSN NM_001127666.2(GSN):c.-47-119C>T SNV Uncertain significance 915112 GRCh37: 9:124062215-124062215
GRCh38: 9:121299937-121299937
19 GSN NM_001127666.2(GSN):c.1690C>G (p.Leu564Val) SNV Uncertain significance 913572 GRCh37: 9:124089655-124089655
GRCh38: 9:121327377-121327377
20 GSN NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg) SNV Uncertain significance 913570 GRCh37: 9:124088920-124088920
GRCh38: 9:121326642-121326642
21 GSN NM_001127666.2(GSN):c.542G>C (p.Gly181Ala) SNV Uncertain significance 913533 GRCh37: 9:124073119-124073119
GRCh38: 9:121310841-121310841
22 GSN NM_001127666.2(GSN):c.473T>C (p.Val158Ala) SNV Uncertain significance 913532 GRCh37: 9:124073050-124073050
GRCh38: 9:121310772-121310772
23 GSN NM_001127666.2(GSN):c.*98T>A SNV Uncertain significance 912486 GRCh37: 9:124094979-124094979
GRCh38: 9:121332701-121332701
24 GSN NM_001127666.2(GSN):c.261G>A (p.Ala87=) SNV Uncertain significance 912418 GRCh37: 9:124065220-124065220
GRCh38: 9:121302942-121302942
25 GSN NM_001127666.2(GSN):c.40G>T (p.Val14Leu) SNV Uncertain significance 912416 GRCh37: 9:124064256-124064256
GRCh38: 9:121301978-121301978
26 GSN NM_001127666.2(GSN):c.*194G>A SNV Uncertain significance 364842 rs886063412 GRCh37: 9:124095075-124095075
GRCh38: 9:121332797-121332797
27 GSN NM_001127666.2(GSN):c.1975A>G (p.Met659Val) SNV Uncertain significance 364827 rs886063406 GRCh37: 9:124091570-124091570
GRCh38: 9:121329292-121329292
28 GSN NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) SNV Uncertain significance 930592 GRCh37: 9:124088958-124088958
GRCh38: 9:121326680-121326680
29 GSN NM_001127666.2(GSN):c.*126T>C SNV Uncertain significance 364840 rs886063411 GRCh37: 9:124095007-124095007
GRCh38: 9:121332729-121332729
30 GSN NM_001127666.2(GSN):c.-47-159_-47-153del Deletion Uncertain significance 632532 rs1564468965 GRCh37: 9:124062173-124062179
GRCh38: 9:121299895-121299901
31 GSN NM_001127666.2(GSN):c.156C>T (p.Gly52=) SNV Likely benign 364797 rs774617795 GRCh37: 9:124064372-124064372
GRCh38: 9:121302094-121302094
32 GSN NM_001127666.2(GSN):c.159C>T (p.Asp53=) SNV Likely benign 912417 GRCh37: 9:124064375-124064375
GRCh38: 9:121302097-121302097
33 GSN NM_001127666.2(GSN):c.460G>A (p.Gly154Arg) SNV Likely benign 913531 GRCh37: 9:124073037-124073037
GRCh38: 9:121310759-121310759
34 GSN NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr) SNV Likely benign 913571 GRCh37: 9:124089649-124089649
GRCh38: 9:121327371-121327371
35 GSN NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln) SNV Likely benign 915195 GRCh37: 9:124094745-124094745
GRCh38: 9:121332467-121332467
36 GSN NM_001127666.2(GSN):c.2078C>T (p.Thr693Met) SNV Likely benign 915194 GRCh37: 9:124094730-124094730
GRCh38: 9:121332452-121332452
37 GSN NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln) SNV Likely benign 364822 rs528604896 GRCh37: 9:124088950-124088950
GRCh38: 9:121326672-121326672
38 GSN NM_001127666.2(GSN):c.756G>A (p.Ala252=) SNV Likely benign 364805 rs377624593 GRCh37: 9:124076271-124076271
GRCh38: 9:121313993-121313993
39 GSN NM_001127666.2(GSN):c.1815G>A (p.Leu605=) SNV Benign 364825 rs139239940 GRCh37: 9:124091188-124091188
GRCh38: 9:121328910-121328910
40 GSN NM_001127666.2(GSN):c.2102G>A (p.Arg701Gln) SNV Benign 915196 GRCh37: 9:124094754-124094754
GRCh38: 9:121332476-121332476
41 GSN NM_001127666.2(GSN):c.-47-60C>T SNV Benign 915113 GRCh37: 9:124062274-124062274
GRCh38: 9:121299996-121299996
42 GSN NM_001127666.2(GSN):c.1907T>C (p.Ile636Thr) SNV Benign 913955 GRCh37: 9:124091280-124091280
GRCh38: 9:121329002-121329002
43 GSN NM_001127666.2(GSN):c.1760C>G (p.Ala587Gly) SNV Benign 913954 GRCh37: 9:124089725-124089725
GRCh38: 9:121327447-121327447
44 GSN NM_001127666.2(GSN):c.787-11C>T SNV Benign 913912 GRCh37: 9:124079353-124079353
GRCh38: 9:121317075-121317075
45 GSN NM_001127666.2(GSN):c.580C>T (p.Arg194Trp) SNV Benign 913911 GRCh37: 9:124074650-124074650
GRCh38: 9:121312372-121312372
46 GSN NM_001127666.2(GSN):c.1456G>T (p.Val486Leu) SNV Benign 912453 GRCh37: 9:124088796-124088796
GRCh38: 9:121326518-121326518
47 GSN NM_001127666.2(GSN):c.264C>A (p.Ala88=) SNV Benign 912419 GRCh37: 9:124065223-124065223
GRCh38: 9:121302945-121302945
48 GSN NM_001127666.2(GSN):c.1454G>A (p.Arg485His) SNV Benign 364815 rs142828669 GRCh37: 9:124088794-124088794
GRCh38: 9:121326516-121326516
49 GSN NM_001127666.2(GSN):c.1568C>G (p.Thr523Ser) SNV Benign 364818 rs77681311 GRCh37: 9:124088908-124088908
GRCh38: 9:121326630-121326630
50 GSN NM_001127666.2(GSN):c.1964C>T (p.Thr655Met) SNV Benign 364826 rs144434647 GRCh37: 9:124091559-124091559
GRCh38: 9:121329281-121329281

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

72
# Symbol AA change Variation ID SNP ID
1 GSN p.Asp214Asn VAR_007718 rs121909715
2 GSN p.Asp214Tyr VAR_007719 rs121909715

Sources

Expression for Amyloidosis, Finnish Type

About this section
Search GEO for disease gene expression data for Amyloidosis, Finnish Type.
Sources

Pathways for Amyloidosis, Finnish Type

About this section
Sources

GO Terms for Amyloidosis, Finnish Type

About this section

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 9.87 TTR TGFBI SERPINA3 GSN FURIN APOE
2 extracellular exosome GO:0070062 9.8 TTR TGFBI SERPINA3 GSN FURIN APOE
3 extracellular space GO:0005615 9.56 TTR TGFBI SERPINA3 MMP14 GSN FURIN
4 collagen-containing extracellular matrix GO:0062023 9.46 TGFBI SERPINA3 APOE APCS
5 blood microparticle GO:0072562 8.92 SERPINA3 GSN APOE APCS

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 TTR TGFBI MMP14 FURIN
2 zymogen activation GO:0031638 9.37 MMP14 FURIN
3 negative regulation of viral entry into host cell GO:0046597 9.32 GSN APCS
4 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.26 FURIN APOE
5 extracellular matrix disassembly GO:0022617 9.13 MMP14 GSN FURIN
6 cellular protein metabolic process GO:0044267 9.1 TTR TGFBI GSN FURIN APOE APCS
Sources

Sources for Amyloidosis, Finnish Type

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....