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AMYL5
MCID: AMY084
MIFTS: 53

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
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Aliases & Classifications for Amyloidosis, Finnish Type

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MalaCards integrated aliases for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 56 13 39
Finnish Type Amyloidosis 12 74 73 54 15
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 56 73
Familial Amyloid Polyneuropathy Type Iv 58 73
Amyloidosis Due to Mutant Gelsolin 56 73
Lattice Corneal Dystrophy Type Ii 73 71
Amyloidosis, Meretoja Type 56 12
Gelsolin Amyloidosis 58 73
Amyloidosis V 56 73
Type Iv Familial Amyloid Polyneuropathy 54
Familial Amyloid Polyneuropathy, Type V 71
Hereditary Amyloidosis, Finnish Type 58
Familial Amyloidosis, Finnish Type 58
Familial Amyloidosis Finnish Type 73
Meretoja Type Amyloidosis 73
Amyloidosis, Familial 43
Meretoja Syndrome 71
Agel Amyloidosis 58
Amyloidosis 5 73
Amyl5 73
Agel 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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


Sources

Summaries for Amyloidosis, Finnish Type

About this section
OMIM : 56 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)

MalaCards based summary : Amyloidosis, Finnish Type, also known as finnish type amyloidosis, is related to amyloidosis, familial visceral and cerebral amyloid angiopathy, itm2b-related, 2, 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 Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are dry skin and keratoconjunctivitis sicca

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 : 73 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 : 74 Lattice corneal dystrophy type, is a rare form of corneal dystrophy. It has no systemic manifestations,... more...

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Related Diseases for Amyloidosis, Finnish Type

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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 135)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, familial visceral 33.6 TTR GSN APOE APCS
2 cerebral amyloid angiopathy, itm2b-related, 2 32.3 SERPINA3 FURIN
3 cerebral amyloid angiopathy, itm2b-related, 1 31.4 SERPINA3 GSN FURIN CST3
4 hereditary amyloidosis 31.1 TTR GSN FURIN
5 corneal dystrophy, gelatinous drop-like 30.6 TGFBI GSN
6 blepharochalasis 30.4 SERPINA3 GSN
7 polyneuropathy 30.2 TTR GSN APCS
8 peripheral nervous system disease 30.0 U2AF1 TTR SERPINA3 DCAF8
9 amyloidosis, hereditary, transthyretin-related 29.9 TTR GSN APCS
10 cerebral amyloid angiopathy, cst3-related 29.3 TTR SERPINA3 GSN FURIN CST3 APOE
11 retinitis pigmentosa 28.9 U2AF1 TTR SERPINA3 KDM4C GSN DCAF8
12 amyloidosis 28.8 TTR TGFBI SERPINA3 GSN FURIN CST3
13 eye disease 28.4 U2AF1 TGFBI SERPINA3 KDM4C DCAF8 CST3
14 familial amyloidosis, finnish type 12.8
15 lattice corneal dystrophy type ii 11.9
16 primary cutaneous amyloidosis 11.8
17 amyloidosis, primary localized cutaneous, 1 11.8
18 familial mediterranean fever 11.5
19 muckle-wells syndrome 11.2
20 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.2
21 hereditary cerebral amyloid angiopathy 11.2
22 aapoaii amyloidosis 11.2
23 afib amyloidosis 11.2
24 aapoai amyloidosis 11.2
25 autonomic peripheral neuropathy 10.4 TTR GSN
26 pediatric multiple sclerosis 10.4 TTR GSN
27 median neuropathy 10.4 TTR DCAF8
28 testicular yolk sac tumor 10.3 TTR SERPINA3
29 corneal dystrophy, lattice type i 10.3 TGFBI GSN
30 alzheimer disease 2 10.3 SERPINA3 APOE
31 arteriolosclerosis 10.3 SERPINA3 APOE
32 meckel syndrome, type 2 10.3 U2AF1 DCAF8
33 non-langerhans-cell histiocytosis 10.3 U2AF1 SERPINA3
34 cerebral atherosclerosis 10.3 SERPINA3 APOE
35 epithelial and subepithelial dystrophy 10.2 TGFBI GSN
36 carotenemia 10.2 TTR APCS
37 communicating hydrocephalus 10.2 SERPINA3 APOE
38 ataxia and polyneuropathy, adult-onset 10.2
39 facial paralysis 10.2
40 recurrent corneal erosion 10.2
41 brachydactyly, type d 10.2 FURIN DCAF8
42 mixed phenotype acute leukemia 10.2 U2AF1 KDM4C
43 cataract 10.2
44 normal pressure hydrocephalus 10.2 TTR SERPINA3 APOE
45 cecal disease 10.1 TTR SERPINA3
46 nerve compression syndrome 10.1 TTR APCS
47 pulmonary embolism 10.1
48 hemorrhage, intracerebral 10.1 CST3 APOE
49 inherited metabolic disorder 10.1 SERPINA3 KDM4C APOE
50 leukocyte disease 10.1 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 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 keratoconjunctivitis sicca 58 31 hallmark (90%) Very frequent (99-80%) HP:0001097
3 bilateral ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001488
4 dermatological manifestations of systemic disorders 58 31 hallmark (90%) Very frequent (99-80%) HP:0001005
5 lattice corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001149
6 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
9 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
12 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
13 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
14 corneal ulceration 58 31 frequent (33%) Frequent (79-30%) HP:0012804
15 polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001271
16 cutis laxa 58 31 frequent (33%) Frequent (79-30%) HP:0000973
17 constrictive median neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0012185
18 myokymia 58 31 frequent (33%) Frequent (79-30%) HP:0002411
19 regional abnormality of skin 58 31 frequent (33%) Frequent (79-30%) HP:0011356
20 distal peripheral sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007067
21 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
22 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
23 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
24 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
25 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
26 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
27 orthostatic hypotension due to autonomic dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0004926
28 diffuse skin atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007488
29 tongue atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012473
30 blepharochalasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010749
31 abnormal spleen morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0025408
32 sparse hair 31 occasional (7.5%) HP:0008070
33 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
34 bulbar signs 58 31 very rare (1%) Very rare (<4-1%) HP:0002483
35 nail dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0008404
36 respiratory tract infection 58 31 very rare (1%) Very rare (<4-1%) HP:0011947
37 stage 5 chronic kidney disease 58 31 very rare (1%) Very rare (<4-1%) HP:0003774
38 deficit in phonologic short-term memory 58 31 very rare (1%) Very rare (<4-1%) HP:0002549
39 renal insufficiency 31 HP:0000083
40 edema 58 Frequent (79-30%)
41 nephrotic syndrome 31 HP:0000100
42 hypotrichosis 58 Occasional (29-5%)
43 abnormality of the eye 58 Very frequent (99-80%)
44 abnormality of the nervous system 58 Frequent (79-30%)
45 bulbar palsy 31 HP:0001283
46 abnormality of abdomen morphology 31 HP:0001438
47 generalized amyloid deposition 31 HP:0003216
48 cardiac amyloidosis 31 HP:0030843

Symptoms via clinical synopsis from OMIM:

56
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

Symptoms:

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

MGI Mouse Phenotypes related to Amyloidosis, Finnish Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 APOE CST3 DCAF8 FURIN GSN MMP14
2 mortality/aging MP:0010768 9.32 APCS APOE CST3 FURIN GSN KDM4C
Sources

Drugs & Therapeutics for Amyloidosis, Finnish Type

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Analgesics, Non-Narcotic Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5 Cyclooxygenase Inhibitors Phase 2, Phase 3
6 Antirheumatic Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Liver Extracts Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
11
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
12
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
13
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
14
Tauroursodeoxycholic acid Experimental, Investigational Phase 1, Phase 2 14605-22-2 12443252
15 Gastrointestinal Agents Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antiviral Agents Phase 1, Phase 2
18 Antiprotozoal Agents Phase 1, Phase 2
19 Antiparasitic Agents Phase 1, Phase 2
20 Antimalarials Phase 1, Phase 2
21 Anti-Bacterial Agents Phase 1, Phase 2
22 Immunologic Factors Phase 1, Phase 2
23 Angiogenesis Inhibitors Phase 1, Phase 2
24 Hormones Phase 1, Phase 2
25 Antineoplastic Agents, Hormonal Phase 1, Phase 2
26 Antiemetics Phase 1, Phase 2
27 Alkylating Agents Phase 1, Phase 2
28 Hormone Antagonists Phase 1, Phase 2
29 Immunosuppressive Agents Phase 1, Phase 2
30 glucocorticoids Phase 1, Phase 2
31
Colchicine Approved 64-86-8 2833 6167
32
Valine Approved, Nutraceutical 72-18-4 6287
33
Threonine Approved, Nutraceutical 72-19-5 6288
34
L-Alanine Nutraceutical 56-41-7 5950
35
Isoleucine Investigational, Nutraceutical 443-79-8, 73-32-5 6306

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 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)
2 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)
3 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
4 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 Active, not recruiting NCT03862807 Phase 3 Patisiran
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 An 18 Month, Open Label Study of the Tolerability and Efficacy of a Combination of Doxycycline and Tauroursodeoxycholic Acid (TUDCA) in Patients With Transthyretin Amyloid Cardiomyopathy. Completed NCT01855360 Phase 1, Phase 2 Tauroursodeoxycholic Acid and Doxycycline
7 A Phase II Study of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
8 A Multicenter Phase I/II Dose Escalation Study of Lenalidomide in Combination With Melphalan and Dexamethasone in Subjects With Newly-diagnosed Light-chain (AL)-Amyloidosis Completed NCT00621400 Phase 1, Phase 2 Lenalidomide;Melphalan;Dexamethasone
9 24 Month Open Label Study of the Tolerability and Efficacy of an Antisense Oligonucleotide (Inotersen) in Patients With Transthyretin (TTR) Amyloid Cardiomyopathy Recruiting NCT03702829 Phase 2 Inotersen
10 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study Unknown status NCT03068156
11 Agreement Between Clinician and Instrumented Laxity Assessment Unknown status NCT03309098
12 Progression of Renal Amyloidosis of FMF and Relation to Serum SAA Level Unknown status NCT01168570
13 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
14 Expanded Access Program for Inotersen (ISIS 420915) in Patients With Hereditary Transthyretin Amyloidosis (hATTR) Approved for marketing NCT03400098 Inotersen
15 Expanded Access Protocol of Patisiran for Patients With Hereditary Transthyretin-Mediated Amyloidosis (hATTR Amyloidosis) With Polyneuropathy Approved for marketing NCT02939820 patisiran (ALN-TTR02)
16 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
17 A Phase 4 Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of Hereditary Transthyretin-Mediated (hATTR) Amyloidosis With a V122I or T60A Mutation Recruiting NCT04201418 Patisiran

Search NIH Clinical Center for Amyloidosis, Finnish Type

Cochrane evidence based reviews: amyloidosis, familial

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Genetic Tests for Amyloidosis, Finnish Type

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Anatomical Context for Amyloidosis, Finnish Type

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MalaCards organs/tissues related to Amyloidosis, Finnish Type:

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

Publications for Amyloidosis, Finnish Type

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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. 56 6 61
1322359 1992
2
Database for the mutations of the Finnish disease heritage. 6 56
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. 56 6
1315718 1992
4
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. 6 56
1311149 1992
5
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. 6 56
2153578 1990
6
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). 6 56
6610849 1983
7
Three forms of dominant amyloid neuropathy. 6 56
6975851 1981
8
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. 6 56
4543600 1973
9
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). 54 61 6
7868127 1995
10
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. 61 56 54
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. 56 54 61
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). 56 61
7836945 1994
15
Mutation in gelsolin gene in Finnish hereditary amyloidosis. 6 61
2175344 1990
16
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. 6 54
2176550 1990
17
Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. 56
8684801 1996
18
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. 6
8388189 1993
19
Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. 56
1333716 1992
20
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. 6
1322360 1992
21
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. 6
1658654 1991
22
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. 6
1652889 1991
23
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). 56
1923356 1991
24
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. 6
1848334 1991
25
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. 56
2176164 1990
26
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. 56
3513049 1986
27
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. 56
228009 1979
28
Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis. 56
305513 1978
29
[An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy]. 56
4109360 1971
30
Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. 56
4163628 1967
31
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). 61 54
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. 54 61
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

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ClinVar genetic disease variations for Amyloidosis, Finnish Type:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSN NM_001127666.2(GSN):c.520G>A (p.Asp174Asn)SNV Pathogenic 16180 rs121909715 9:124073097-124073097 9:121310819-121310819
2 GSN NM_001127666.2(GSN):c.520G>T (p.Asp174Tyr)SNV Pathogenic 16181 rs121909715 9:124073097-124073097 9:121310819-121310819
3 GSN NM_001127666.2(GSN):c.-47-159_-47-153deldeletion Uncertain significance 632532 rs1564468965 9:124062173-124062179 9:121299895-121299901
4 GSN NM_001127666.2(GSN):c.1690C>G (p.Leu564Val)SNV Uncertain significance 913572 9:124089655-124089655 9:121327377-121327377
5 GSN NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg)SNV Uncertain significance 913570 9:124088920-124088920 9:121326642-121326642
6 GSN NM_001127666.2(GSN):c.1031G>T (p.Gly344Val)SNV Uncertain significance 913915 9:124080965-124080965 9:121318687-121318687
7 GSN NM_001127666.2(GSN):c.947A>G (p.Lys316Arg)SNV Uncertain significance 913914 9:124080711-124080711 9:121318433-121318433
8 GSN NM_001127666.2(GSN):c.542G>C (p.Gly181Ala)SNV Uncertain significance 913533 9:124073119-124073119 9:121310841-121310841
9 GSN NM_001127666.2(GSN):c.473T>C (p.Val158Ala)SNV Uncertain significance 913532 9:124073050-124073050 9:121310772-121310772
10 GSN NM_001127666.2(GSN):c.261G>A (p.Ala87=)SNV Uncertain significance 912418 9:124065220-124065220 9:121302942-121302942
11 GSN NM_001127666.2(GSN):c.40G>T (p.Val14Leu)SNV Uncertain significance 912416 9:124064256-124064256 9:121301978-121301978
12 GSN NM_001127666.2(GSN):c.30C>G (p.Asn10Lys)SNV Uncertain significance 915114 9:124064246-124064246 9:121301968-121301968
13 GSN NM_001127666.2(GSN):c.-47-119C>TSNV Uncertain significance 915112 9:124062215-124062215 9:121299937-121299937
14 GSN NM_001127666.2(GSN):c.*98T>ASNV Uncertain significance 912486 9:124094979-124094979 9:121332701-121332701
15 GSN NM_001127666.2(GSN):c.*28G>ASNV Uncertain significance 915197 9:124094909-124094909 9:121332631-121332631
16 GSN NM_001127666.2(GSN):c.919+12A>CSNV Uncertain significance 913913 9:124079508-124079508 9:121317230-121317230
17 GSN NM_001127666.2(GSN):c.*126T>CSNV Uncertain significance 364840 rs886063411 9:124095007-124095007 9:121332729-121332729
18 GSN NM_001127666.2(GSN):c.*205G>ASNV Uncertain significance 364843 rs779431879 9:124095086-124095086 9:121332808-121332808
19 GSN NM_001127666.2(GSN):c.1586G>A (p.Arg529His)SNV Uncertain significance 364819 rs769400986 9:124088926-124088926 9:121326648-121326648
20 GSN NM_001127666.2(GSN):c.*194G>ASNV Uncertain significance 364842 rs886063412 9:124095075-124095075 9:121332797-121332797
21 GSN NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys)SNV Uncertain significance 364828 rs886063407 9:124093702-124093702 9:121331424-121331424
22 GSN NM_001127666.2(GSN):c.1975A>G (p.Met659Val)SNV Uncertain significance 364827 rs886063406 9:124091570-124091570 9:121329292-121329292
23 GSN NM_001127666.2(GSN):c.-47-230C>TSNV Uncertain significance 364794 rs886063404 9:124062104-124062104 9:121299826-121299826
24 GSN NM_001127666.2(GSN):c.579T>G (p.Asn193Lys)SNV Uncertain significance 364804 rs752698745 9:124074649-124074649 9:121312371-121312371
25 GSN NM_001127666.2(GSN):c.-47-114G>ASNV Uncertain significance 364795 rs886063405 9:124062220-124062220 9:121299942-121299942
26 GSN NM_001127666.2(GSN):c.*185G>ASNV Uncertain significance 364841 rs757682798 9:124095066-124095066 9:121332788-121332788
27 GSN NM_001127666.2(GSN):c.756G>A (p.Ala252=)SNV Likely benign 364805 rs377624593 9:124076271-124076271 9:121313993-121313993
28 GSN NM_001127666.2(GSN):c.156C>T (p.Gly52=)SNV Likely benign 364797 rs774617795 9:124064372-124064372 9:121302094-121302094
29 GSN NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln)SNV Likely benign 364822 rs528604896 9:124088950-124088950 9:121326672-121326672
30 GSN NM_001127666.2(GSN):c.159C>T (p.Asp53=)SNV Likely benign 912417 9:124064375-124064375 9:121302097-121302097
31 GSN NM_001127666.2(GSN):c.460G>A (p.Gly154Arg)SNV Likely benign 913531 9:124073037-124073037 9:121310759-121310759
32 GSN NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr)SNV Likely benign 913571 9:124089649-124089649 9:121327371-121327371
33 GSN NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln)SNV Likely benign 915195 9:124094745-124094745 9:121332467-121332467
34 GSN NM_001127666.2(GSN):c.2078C>T (p.Thr693Met)SNV Likely benign 915194 9:124094730-124094730 9:121332452-121332452
35 GSN NM_001127666.2(GSN):c.1476C>T (p.Pro492=)SNV Benign/Likely benign 760573 9:124088816-124088816 9:121326538-121326538
36 GSN NM_001127666.2(GSN):c.1964C>T (p.Thr655Met)SNV Benign/Likely benign 364826 rs144434647 9:124091559-124091559 9:121329281-121329281
37 GSN NM_001127666.2(GSN):c.1815G>A (p.Leu605=)SNV Benign 364825 rs139239940 9:124091188-124091188 9:121328910-121328910
38 GSN NM_001127666.2(GSN):c.1454G>A (p.Arg485His)SNV Benign 364815 rs142828669 9:124088794-124088794 9:121326516-121326516
39 GSN NM_001127666.2(GSN):c.1727C>T (p.Thr576Met)SNV Benign 364824 rs76463933 9:124089692-124089692 9:121327414-121327414
40 GSN NM_001127666.2(GSN):c.1588G>A (p.Ala530Thr)SNV Benign 364820 rs147554026 9:124088928-124088928 9:121326650-121326650
41 GSN NM_001127666.2(GSN):c.1272A>G (p.Thr424=)SNV Benign 364812 rs149375418 9:124083593-124083593 9:121321315-121321315
42 GSN NM_001127666.2(GSN):c.1568C>G (p.Thr523Ser)SNV Benign 364818 rs77681311 9:124088908-124088908 9:121326630-121326630
43 GSN NM_001127666.2(GSN):c.1293C>T (p.Gly431=)SNV Benign 364813 rs2304393 9:124083614-124083614 9:121321336-121321336
44 GSN NM_001127666.2(GSN):c.304C>T (p.Arg102Trp)SNV Benign 364802 rs146956976 9:124065263-124065263 9:121302985-121302985
45 GSN NM_001127666.2(GSN):c.62A>G (p.Lys21Arg)SNV Benign 364796 rs115224458 9:124064278-124064278 9:121302000-121302000
46 GSN NM_001127666.2(GSN):c.1546G>A (p.Gly516Arg)SNV Benign 364817 rs58750568 9:124088886-124088886 9:121326608-121326608
47 GSN NM_001127666.2(GSN):c.1520A>G (p.Tyr507Cys)SNV Benign 364816 rs139832048 9:124088860-124088860 9:121326582-121326582
48 GSN NM_001127666.2(GSN):c.276C>T (p.Thr92=)SNV Benign 364801 rs116956127 9:124065235-124065235 9:121302957-121302957
49 GSN NM_001127666.2(GSN):c.229+7C>TSNV Benign 364799 rs146379508 9:124064452-124064452 9:121302174-121302174
50 GSN NM_001127666.2(GSN):c.2102G>A (p.Arg701Gln)SNV Benign 915196 9:124094754-124094754 9:121332476-121332476

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

73
# Symbol AA change Variation ID SNP ID
1 GSN p.Asp214Asn VAR_007718 rs121909715
2 GSN p.Asp214Tyr VAR_007719 rs121909715

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Expression for Amyloidosis, Finnish Type

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

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GO Terms for Amyloidosis, Finnish Type

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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 9.86 TTR TGFBI SERPINA3 GSN FURIN CST3
2 extracellular exosome GO:0070062 9.76 TTR TGFBI SERPINA3 GSN FURIN CST3
3 collagen-containing extracellular matrix GO:0062023 9.62 TGFBI SERPINA3 APOE APCS
4 extracellular space GO:0005615 9.28 TTR TGFBI SERPINA3 MMP14 GSN FURIN
5 blood microparticle GO:0072562 9.26 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 neutrophil degranulation GO:0043312 9.78 TTR SERPINA3 GSN CST3
2 negative regulation of endopeptidase activity GO:0010951 9.63 SERPINA3 FURIN CST3
3 response to oxidative stress GO:0006979 9.5 MMP14 CST3 APOE
4 extracellular matrix organization GO:0030198 9.46 TTR TGFBI MMP14 FURIN
5 zymogen activation GO:0031638 9.43 MMP14 FURIN
6 blastocyst formation GO:0001825 9.4 KDM4C FURIN
7 negative regulation of viral entry into host cell GO:0046597 9.37 GSN APCS
8 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.26 FURIN APOE
9 cellular protein metabolic process GO:0044267 9.17 TTR TGFBI GSN FURIN CST3 APOE
10 extracellular matrix disassembly GO:0022617 9.13 MMP14 GSN FURIN
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Sources for Amyloidosis, Finnish Type

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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
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