AMYL5
MCID: AMY084
MIFTS: 42

Amyloidosis, Finnish Type (AMYL5) malady

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

Aliases & Classifications for Amyloidosis, Finnish Type

Aliases & Descriptions for Amyloidosis, Finnish Type:

Name: Amyloidosis, Finnish Type 54 13
Finnish Type Amyloidosis 12 66 52 14
Familial Amyloid Polyneuropathy Type Iv 56 66
Lattice Corneal Dystrophy Type Ii 66 69
Gelsolin Amyloidosis 56 66
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 66
Familial Amyloid Polyneuropathy, Type V 69
Hereditary Amyloidosis, Finnish Type 56
Familial Amyloidosis, Finnish Type 56
Amyloidosis Due to Mutant Gelsolin 66
Familial Amyloidosis Finnish Type 66
Amyloidosis, Meretoja Type 12
Meretoja Type Amyloidosis 66
Amyloidosis, Familial 42
Meretoja Syndrome 69
Agel Amyloidosis 56
Amyloidosis V 66
Amyloidosis 5 66
Amyl5 66
Agel 66

Characteristics:

Orphanet epidemiological data:

56
agel amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

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


Classifications:



External Ids:

OMIM 54 105120
Disease Ontology 12 DOID:0050637
Orphanet 56 ORPHA85448
ICD10 via Orphanet 34 E85.1
MeSH 42 D028226

Summaries for Amyloidosis, Finnish Type

OMIM : 54 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including... (105120) more...

MalaCards based summary : Amyloidosis, Finnish Type, also known as finnish type amyloidosis, is related to familial amyloidosis, finnish type and amyloidosis, familial visceral, 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 fat-soluble vitamins and Ca, cAMP and Lipid Signaling. The drugs Omega 3 Fatty Acid and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot : 66 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.

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 by clinical synopsis from OMIM:

105120

Clinical features from OMIM:

105120

Human phenotypes related to Amyloidosis, Finnish Type:

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

Drugs & Therapeutics for Amyloidosis, Finnish Type

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

(show top 50) (show all 90)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Nutraceutical Phase 4
2
Colchicine Approved Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
3
Diflunisal Approved Phase 2, Phase 3 22494-42-4 3059
4
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
5
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
6
Mechlorethamine Approved Phase 3 51-75-2 4033
7
Melphalan Approved Phase 3 148-82-3 4053 460612
8
Triamcinolone Approved, Vet_approved Phase 3,Phase 2 124-94-7 31307
9
Bicalutamide Approved Phase 3 90357-06-5 56069 2375
10
Buserelin Approved Phase 3 57982-77-1
11
Flutamide Approved Phase 3 13311-84-7 3397
12
Goserelin Approved Phase 3 65807-02-5 47725 5311128
13
Leuprolide Approved, Investigational Phase 3 53714-56-0 3911 657181
14
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
15 Antirheumatic Agents Phase 2, Phase 3, Phase 1
16 Antimitotic Agents Phase 3,Phase 2,Phase 1
17 Analgesics Phase 2, Phase 3
18 Analgesics, Non-Narcotic Phase 2, Phase 3
19 Anti-Inflammatory Agents Phase 2, Phase 3
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
21 Cyclooxygenase Inhibitors Phase 2, Phase 3
22 Peripheral Nervous System Agents Phase 2, Phase 3
23 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 2,Phase 1
24 Antibodies Phase 3,Phase 2,Phase 1
25 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
26 Immunoglobulins Phase 3,Phase 2,Phase 1
27 Vaccines Phase 3
28 Alkylating Agents Phase 3
29 Antiemetics Phase 3
30 Antineoplastic Agents, Alkylating Phase 3
31 Antineoplastic Agents, Hormonal Phase 3
32 Autonomic Agents Phase 3
33 BB 1101 Phase 3
34 Dexamethasone 21-phosphate Phase 3
35 Dexamethasone acetate Phase 3 1177-87-3
36 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
37 glucocorticoids Phase 3,Phase 2
38 HIV Protease Inhibitors Phase 3
39 Hormone Antagonists Phase 3,Phase 2
40 Hormones Phase 3,Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
42 Immunosuppressive Agents Phase 3,Phase 2
43
protease inhibitors Phase 3
44 triamcinolone acetonide Phase 3,Phase 2
45 Triamcinolone diacetate Phase 3,Phase 2
46 Triamcinolone hexacetonide Phase 3,Phase 2
47 Pharmaceutical Solutions Phase 3,Phase 2
48 Androgen Antagonists Phase 3
49 Androgens Phase 3
50 Triptorelin Pamoate Phase 3

Interventional clinical trials:

(show top 50) (show all 86)
id Name Status NCT ID Phase
1 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
2 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3
3 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
4 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3
5 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3
6 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3
7 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3
8 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3
9 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
10 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3
11 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3
12 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3
13 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
14 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
15 Canakinumab in the Treatment of Acute Gout Flares and Prevention of New Flares in Patients Unable to Use Non-steroidal Anti-inflammatory Drugs (NSAIDs) and/or Colchicines Including a 12 Week Extension and a 1 Year Open-label Extension Study. Completed NCT01080131 Phase 3
16 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
17 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
18 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Recruiting NCT02334748 Phase 3
19 A Study of Crenezumab Versus Placebo to Evaluate the Efficacy and Safety in Participants With Prodromal to Mild Alzheimer's Disease (AD) Recruiting NCT03114657 Phase 3
20 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Active, not recruiting NCT01960348 Phase 3
21 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Active, not recruiting NCT01737398 Phase 3
22 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
23 Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers Active, not recruiting NCT02059291 Phase 3
24 Prostate Radiation Therapy or Short-Term Androgen Deprivation Therapy and Pelvic Lymph Node Radiation Therapy With or Without Prostate Radiation Therapy in Treating Patients With a Rising Prostate Specific Antigen (PSA) After Surgery for Prostate Cancer Active, not recruiting NCT00567580 Phase 3
25 Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP) Enrolling by invitation NCT02175004 Phase 3
26 The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) Enrolling by invitation NCT02510261 Phase 3
27 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
28 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2
29 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2
30 The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant Completed NCT02595983 Phase 2
31 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2
32 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2
33 Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
34 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2
35 Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2
36 The Study of an Investigational Drug, ALN-TTR02 (Patisiran), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) Completed NCT01961921 Phase 2
37 Rilonacept for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2
38 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
39 Ascending Single Dose Study of Rhu-pGelsolin in Patients With Decreased Gelsolin Levels Completed NCT00671307 Phase 1, Phase 2
40 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2
41 A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Acute Gouty Arthritis Recruiting NCT03002974 Phase 2
42 Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy Active, not recruiting NCT01855360 Phase 1, Phase 2
43 A Phase IIa Multi-Center Study of 18F-FDG PET, Safety, and Tolerability of AZD0530 in Mild Alzheimer's Disease Active, not recruiting NCT02167256 Phase 2
44 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Not yet recruiting NCT02535962 Phase 2
45 Efficacy, Safety And Tolerability Study Of RN6G In Subjects With Geographic Atrophy Secondary to Age-related Macular Degeneration Terminated NCT01577381 Phase 2
46 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1
47 Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) Patients Completed NCT01075906 Phase 1
48 Health Evaluation in African Americans Using RAS Therapy Recruiting NCT02471833 Phase 1
49 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Active, not recruiting NCT02797847 Phase 1
50 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Not yet recruiting NCT02775994 Phase 1

Search NIH Clinical Center for Amyloidosis, Finnish Type

Cochrane evidence based reviews: amyloidosis, familial

Genetic Tests for Amyloidosis, Finnish Type

Genetic tests related to Amyloidosis, Finnish Type:

id Genetic test Affiliating Genes
1 Amyloidosis V 24 GSN

Anatomical Context for Amyloidosis, Finnish Type

MalaCards organs/tissues related to Amyloidosis, Finnish Type:

39
Skin, Bone, Eye

Publications for Amyloidosis, Finnish Type

Articles related to Amyloidosis, Finnish Type:

(show all 16)
id 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
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). ( 11222521 )
2001
5
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). ( 11226199 )
2001
6
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. ( 9547007 )
1998
7
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). ( 7868127 )
1995
8
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). ( 7836945 )
1994
9
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. ( 8107706 )
1994
10
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. ( 8243656 )
1993
11
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. ( 8383491 )
1993
12
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. ( 8395367 )
1993
13
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. ( 1322359 )
1992
14
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. ( 2162627 )
1990
15
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. ( 2176481 )
1990
16
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:

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GSN NM_001127666.1(GSN): c.520G> A (p.Asp174Asn) 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.

Pathways for Amyloidosis, Finnish Type

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 APOE TTR
2 10.72 APOE GSN

GO Terms for Amyloidosis, Finnish Type

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

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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