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MCID: AMY004
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Amyloidosis

Categories: Blood diseases, Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Amyloidosis

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MalaCards integrated aliases for Amyloidosis:

Name: Amyloidosis 11 58 53 5 41 43 14 16 71 75 31 33
Amyloid Disease 11 33
Lardaceous Degeneration 33
Idiopathic Amyloidosis 33
Amyloid Degeneration 33
Amyloid Infiltration 33
Hyaloid Degeneration 33
Amyloid Deposition 33
Amyloidosis Nos 33
Amyloid 33

Characteristics:


Prevelance:

1-9/100000 (Korea, Republic of) 58

Age Of Onset:

All ages 58

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Endocrine diseases Bone diseases Neuronal diseases Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 11 DOID:9120
ICD9CM 34 277.3
MeSH 43 D000686
NCIt 49 C2868
SNOMED-CT 68 154769007
ICD10 31 E85 E85.9
MESH via Orphanet 44 D000686
ICD10 via Orphanet 32 E85.0 E85.1 E85.2 more
UMLS via Orphanet 72 C0002726
Orphanet 58 ORPHA69
UMLS 71 C0002726
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Summaries for Amyloidosis

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MedlinePlus: 41 Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: Primary - with no known cause Secondary - caused by another disease, including some types of cancer Familial - passed down through genes Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.

MalaCards based summary: Amyloidosis, also known as amyloid disease, is related to amyloidosis, hereditary, transthyretin-related and immunoglobulin light chain amyloidosis. An important gene associated with Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Innate Immune System and Metabolism of proteins. The drugs Citalopram and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney, and related phenotypes are homeostasis/metabolism and cellular

Disease Ontology: 11 A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.

Orphanet: 58 A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.

Wikipedia: 75 Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in... more...
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Related Diseases for Amyloidosis

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Diseases in the Amyloidosis family:

Hereditary Amyloidosis Primary Localized Amyloidosis

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

(show top 50) (show all 2439)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 33.5 TTR IAPP GSN B2M APP APOE
2 immunoglobulin light chain amyloidosis 33.4 TTR SAA1 LYZ GSN B2M APOA1
3 hereditary amyloidosis 33.3 TTR LYZ GSN B2M APOA1
4 primary cutaneous amyloidosis 33.2 TTR TGFBI SERPINA3 OSMR GSN CST3
5 amyloidosis, finnish type 33.1 TTR TGFBI SERPINA3 GSN CST3 APOE
6 serum amyloid a amyloidosis 33.1 TTR SERPINA3 SAA4 SAA2 SAA1 MEFV
7 dialysis-related amyloidosis 33.1 TTR SERPINA3 IAPP B2M
8 amyloidosis, familial visceral 33.0 TTR SAA4 SAA2 SAA1 MEFV LYZ
9 immunoglobulin heavy chain amyloidosis 32.9 TTR GSN
10 wild-type amyloidosis 32.9 TTR SERPINA3 IAPP GSN B2M APOA1
11 apolipoprotein a-iv associated amyloidosis 32.9 GSN APOA1
12 cerebral amyloid angiopathy, app-related 32.8 SERPINA3 PSEN1 GSN CST3 BACE1 APP
13 familial mediterranean fever 32.7 SAA4 SAA2 SAA1 MEFV
14 cerebral amyloid angiopathy, cst3-related 32.5 TTR SERPINA3 PSEN1 PRNP IAPP GSN
15 alzheimer disease 3 32.1 PSEN1 BACE1 APP APOE
16 alzheimer disease 4 32.1 PSEN1 BACE1 APOE
17 gerstmann-straussler disease 32.1 TTR SERPINA3 PSEN1 PRNP APP
18 cerebral amyloid angiopathy, itm2b-related, 1 32.0 SERPINA3 PSEN1 PRNP GSN CST3 APP
19 corneal dystrophy, lattice type i 31.9 TGFBI GSN
20 nephrotic syndrome 31.9 TTR GSN FGA B2M APOE APOA1
21 supranuclear palsy, progressive, 1 31.5 SERPINA3 PSEN1 PRNP BACE1 APP APOE
22 chronic kidney disease 31.3 TTR CST3 B2M APOA1
23 kidney disease 31.3 TTR MEFV CST3 B2M APOE APOA1
24 amyloid neuropathy 31.2 TTR GSN APOA1
25 early-onset, autosomal dominant alzheimer disease 31.2 PSEN1 APP
26 amyloid tumor 31.1 TTR B2M
27 peripheral nervous system disease 31.1 TTR SERPINA3 PSEN1 BACE1 B2M APP
28 crohn's disease 31.0 SERPINA3 SAA2 SAA1
29 spondyloarthropathy 31.0 SAA1 MEFV B2M
30 hemorrhage, intracerebral 31.0 CST3 APP APOE
31 rheumatoid arthritis 31.0 TTR SERPINA3 SAA4 SAA2 SAA1 MEFV
32 normal pressure hydrocephalus 31.0 SERPINA3 PSEN1 APP APOE
33 heart disease 31.0 TTR SERPINA3 MEFV FGA CST3 B2M
34 subjective cognitive decline 30.9 SERPINA3 PSEN1 BACE1 APP APOE
35 prion disease 30.9 SERPINA3 PSEN1 PRNP APP
36 alzheimer disease, familial, 1 30.8 TTR SERPINA3 PSEN1 PRNP IAPP GSN
37 binswanger's disease 30.7 APP APOE
38 down syndrome 30.7 SERPINA3 PSEN1 BACE1 APP APOE
39 hypothyroidism 30.6 TTR CST3 APOE APOA1
40 blepharochalasis 30.6 TTR GSN
41 arteriolosclerosis 30.6 SERPINA3 APP APOE
42 movement disease 30.6 SERPINA3 PSEN1 PRNP APP APOE
43 mild cognitive impairment 30.5 SERPINA3 PSEN1 BACE1 APP APOE
44 lipoprotein quantitative trait locus 30.5 SERPINA3 SAA1 MEFV FGA CST3 APOE
45 vascular disease 30.5 TTR CST3 APP APOE APOA1
46 scrapie 30.5 SERPINA3 PRNP APP APOE
47 chronic wasting disease 30.4 SERPINA3 PRNP APP
48 arteriosclerosis 30.4 TTR CST3 APOE APOA1
49 dementia 30.4 TTR SERPINA3 PSEN1 PRNP CST3 BACE1
50 type 2 diabetes mellitus 30.3 TTR TGFBI SERPINA3 SAA1 IAPP CST3

Comorbidity relations with Amyloidosis via Phenotypic Disease Network (PDN):


Acute Cystitis Chronic Kidney Disease
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to Amyloidosis
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Symptoms & Phenotypes for Amyloidosis

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GenomeRNAi Phenotypes related to Amyloidosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 APOA1 APOE APP B2M BACE1 CST3
2 no effect GR00402-S-2 10.17 APOA1 APOE APP B2M GSN IAPP

MGI Mouse Phenotypes related to Amyloidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 APOA1 APOE APP B2M BACE1 CST3
2 cellular MP:0005384 10.13 APOA1 APOE APP B2M BACE1 CST3
3 endocrine/exocrine gland MP:0005379 10.07 APOA1 APOE B2M FGA GSN LYZ
4 immune system MP:0005387 10.07 APOE APP B2M FGA GSN IAPP
5 no phenotypic analysis MP:0003012 9.98 APOE APP BACE1 LYZ OSMR PRNP
6 reproductive system MP:0005389 9.85 APOE APP B2M CST3 FGA GSN
7 hematopoietic system MP:0005397 9.77 APOE APP B2M FGA GSN IAPP
8 integument MP:0010771 9.44 APOA1 APOE APP B2M BACE1 FGA
Sources

Drugs & Therapeutics for Amyloidosis

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

(show top 50) (show all 290)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
2
Ibuprofen Approved Phase 4 15687-27-1 3672
3
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
4
Trimetazidine Approved, Investigational Phase 4 5011-34-7 21109
5
Empagliflozin Approved Phase 4 864070-44-0 73151030 11949646
6
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
7
Atenolol Approved Phase 4 29122-68-7 2249
8
Labetalol Approved Phase 4 36894-69-6 3869
9
Acebutolol Approved, Investigational Phase 4 37517-30-9 1978
10
Betaxolol Approved, Investigational Phase 4 659-18-7, 63659-18-7 2369
11
Penbutolol Approved, Investigational Phase 4 36507-48-9, 38363-40-5 37464
12
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
13
Bisoprolol Approved Phase 4 66722-44-9 2405
14
Nadolol Approved Phase 4 42200-33-9 39147
15
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
16
Propranolol Approved, Investigational Phase 4 318-98-9, 525-66-6 62882 4946
17
Pindolol Approved, Investigational Phase 4 13523-86-9 4828
18
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
19
Huperzine A Approved, Experimental Phase 4 102518-79-6
20
Dexetimide Withdrawn Phase 4 21888-98-2 30843
21
Corticosterone Experimental Phase 4 50-22-6 5753
22 Antirheumatic Agents Phase 4
23 Analgesics Phase 4
24 Cyclooxygenase Inhibitors Phase 4
25 Anti-Inflammatory Agents, Non-Steroidal Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Antiparkinson Agents Phase 4
28 Parasympatholytics Phase 4
29 Psychotropic Drugs Phase 4
30 Antidepressive Agents Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Muscarinic Antagonists Phase 4
33 Cholinergic Antagonists Phase 4
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
35 Vasodilator Agents Phase 4
36 Sodium-Glucose Transporter 2 Inhibitors Phase 4
37 Anti-Inflammatory Agents Phase 4
38 Fluorodeoxyglucose F18 Phase 4
39 Neurotransmitter Agents Phase 4
40 Protective Agents Phase 4
41 Adrenergic beta-Antagonists Phase 4
42 Neuroprotective Agents Phase 4
43 Adrenergic Antagonists Phase 4
44 Adrenergic Agents Phase 4
45 Cholinergic Agents Phase 4
46 Cholinesterase Inhibitors Phase 4
47 Fluorides Phase 4
48
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
49
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
50
Colchicine Approved Phase 3 64-86-8 2833 6167

Interventional clinical trials:

(show top 50) (show all 612)
# Name Status NCT ID Phase Drugs
1 Escitalopram Effects on CSF Amyloid Beta Total Concentrations Completed NCT02161458 Phase 4 Escitalopram 20mg for 2 weeks;Escitalopram 20mg for 8 weeks;Escitalopram 30mg for 8 weeks;Placebo
2 The Effect of Short-Term Statin and NSAID Treatment on CSF Beta-Amyloid Completed NCT00046358 Phase 4 Lovostatin;Ibuprofen
3 A Comparative Study of Bortezomib-Thalidomide-Dexamethason and Bortezomib-Cyclophosphamide-Dexamethason in the Treatment of Monoclonal Immunoglobulin Light Chain Amyloidosis: A Prospective Randomized Controlled Trial（BTD-CHINA-TRIAL） Recruiting NCT04612582 Phase 4 Thalidomide;Cyclophosphamide
4 The Effect of Trimetazidine on Mitochondrial Function, Myocardial Performance, and Invasive Hemodynamics in Patients Diagnosed With Wild-Type Transthyretin Cardiac Amyloidosis Recruiting NCT05633563 Phase 4 Trimetazidine
5 A Phase 4 Safety Study Assessing the Adverse Events Occurring Within One Day of TEGSEDI Administration in Patients With Polyneuropathy of Hereditary Transthyretin-mediated Amyloidosis (hATTR-PN) Recruiting NCT04306510 Phase 4
6 Clinical Study Protocol of Transthyroxine Protein Amyloidosis Cardiomyopathy and Its Gene Carriers Recruiting NCT04935021 Phase 4 ATTR-CM
7 A Pilot Study to Evaluate 18F Florbetapir Binding to Cardiac Amyloid in Patients Undergoing Chemotherapy Recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
8 The Effect of Tafamidis on Transthyretin Stabilization, Safety, Tolerability and Efficacy in Transthyretin Amyloid Polyneuropathy Patients Recruiting NCT04963985 Phase 4 Tafamidis Pill
9 Sodium-Glucose Cotransporter-2 (SGLT2) Inhibitors in Transthyretin Amyloid (ATTR) Cardiomyopathy Recruiting NCT05233163 Phase 4 Empagliflozin
10 Effects of Brain Beta Amyloid on Postoperative Cognition and 18F-AV-45-A14: Clinical Evaluation of Florbetapir F 18 (18F-AV-45) Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
11 A SINGLE ARM, MULTICENTER, OPEN-LABEL STUDY TO EVALUATE THE EFFICACY, SAFETY, TOLERABILITY, AND PHARMACODYNAMICS OF ORALLY ADMINISTERED TAFAMIDIS MEGLUMINE IN TRANSTHYRETIN AMYLOID POLYNEUROPATHY PARTICIPANTS IN CHINA Active, not recruiting NCT04828993 Phase 4 tafamidis meglumine
12 A Study to Characterize the Safety and Efficacy of Tafamidis Once Daily in the Treatment of Transthyretin Amyloid Cardiomyopathy in Chinese Participants Active, not recruiting NCT04814186 Phase 4 Tafamidis
13 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
14 Ultrasound Therapy In Cardiac Amyloidosis Not yet recruiting NCT04667494 Phase 4
15 Pilot Deprescribing N-of-1 Trials for Beta-blockers in Cardiac Amyloidosis Not yet recruiting NCT05019027 Phase 4 Beta blocker
16 An Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Tafamidis in Patients With Transthyretin-mediated Amyloidosis Post Orthotopic Heart Transplantation Not yet recruiting NCT05489523 Phase 4 Tafamidis 61 MG
17 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Not yet recruiting NCT02931136 Phase 4 Huperzine A;Placebo
18 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Terminated NCT03040427 Phase 4 F-18 florbetapir
19 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Terminated NCT01683825 Phase 4 F-18 florbetapir PET
20 Frontline Lenalidomide for AL Amyloidosis Involving Myocardium: Investigation of Organ Reversing Capacity of Lenalidomide Unknown status NCT04298372 Phase 3 Lenalidomide 25mg
21 A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of [18F]NAV4694 PET for Detection of Cerebral Beta-Amyloid When Compared With Postmortem Histopathology Unknown status NCT01886820 Phase 3 [18F]NAV4694
22 Cerebral Amyloid Imaging Using Florbetapir (18F-AV-45) for the Etiological Diagnosis of Poststroke Cognitive Impairment and Dementia Unknown status NCT02813434 Phase 3
23 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)
24 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)
25 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
26 Phase III Trial of Stem Cell Transplantation Compared to Parenteral Melphalan and Oral Dexamethasone in the Treatment of Primary Systemic Amyloidosis (AL) Completed NCT00477971 Phase 3 dexamethasone;melphalan
27 Induction Therapy With Bortezomib and Dexamethasone Followed by Autologous Stem Cell Transplantation Versus Autologous Stem Cell Transplantation Alone in the Treatment of AL Amyloidosis Completed NCT01998503 Phase 3 Bortezomib;dexamethasone;Melphalan
28 Autologous Stem Cell Transplantation (ASCT) Versus Oral Melphalan and High-Dose Dexamethasone in Patients With AL (Primary)Amyloidosis. A Prospective Randomized Trial . Completed NCT00344526 Phase 3 Melphalan;Dexamethasone
29 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
30 A Randomized Phase III Trial of Melphalan and Dexamethasone (MDex) Versus Bortezomib, Melphalan and Dexamethasone (BMDex) for Untreated Patients With Systemic Light-Chain (AL) Amyloidosis Ineligible for Autologous Stem-Cell Transplantation Completed NCT01078454 Phase 3 melphalan;dexamethasone;bortezomib
31 A Randomized Open-label Multicenter Phase III Trial of Melphalan and Dexamethasone (MDex) Versus Bortezomib, Melphalan and Dexamethasone (BMDex) for Untreated Patients With Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3 BMDex
32 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
33 A Phase 3, Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of Dexamethasone Plus MLN9708 or Physicians Choice of Treatment Administered to Patients With Relapsed or Refractory Systemic Light Chain (AL) Amyloidosis Completed NCT01659658 Phase 3 IXAZOMIB;Dexamethasone;Melphalan;Cyclophosphamide;Thalidomide;Lenalidomide
34 OPEN-LABEL SAFETY AND EFFICACY EVALUATION OF FX-1006A IN SUBJECTS WITH TRANSTHYRETIN (TTR) AMYLOIDOSIS Completed NCT00925002 Phase 3 Tafamidis
35 International Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of the Efficacy and Safety of KIACTA in Preventing Renal Function Decline in Patients With AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
36 A Multicenter, Open-Label, Extension Study to Evaluate the Long-term Safety and Efficacy of Patisiran in Patients With Familial Amyloidotic Polyneuropathy Who Have Completed a Prior Patisiran Clinical Study Completed NCT02510261 Phase 3 Patisiran (ALN-TTR02)
37 An Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (FAP) Completed NCT02175004 Phase 3 IONIS-TTR Rx
38 A Phase 2/3 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (NEURO-TTR Study) Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
39 Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-blind, Placebo-controlled Study Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
40 A Phase III Study of the Correlation Between Florbetapir F 18 (18F-AV-45) PET Imaging and Amyloid Pathology Completed NCT00857415 Phase 3 florbetapir F 18
41 An Open-Label 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 Fx-1006A
42 A Randomized, Double-blind, Placebo Controlled Study of Canakinumab in Patients With Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF), With Subsequent Randomized Withdrawal/Dosing Frequency Reduction and Open-label Long-term Treatment Epochs Completed NCT02059291 Phase 3 Canakinumab;Placebo
43 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
44 A French Open-label Extension Study of Canakinumab in Patients Who Participated in International Phase III Studies CACZ885G2301E1 or CACZ885G2306 in Systemic Juvenile Idiopathic Arthritis and CACZ885N2301 in Hereditary Periodic Fevers (TRAPS, HIDS, or crFMF) Completed NCT02334748 Phase 3 canakinumab
45 A Single-arm, Open-label, Multi-center Study to Determine the Specificity of Flutemetamol (18F) Injection for Excluding the Presence of Brain Amyloid in Healthy Young Adult Subjects Aged 18 to 40 Completed NCT01265394 Phase 3 [18F] Flutemetamol
46 A Principal Open-Label Study to Compare the Brain Uptake of [18F]Flutemetamol With Brain Amyloid Levels Determined Post-Mortem Completed NCT01165554 Phase 3 [18F] Flutemetamol
47 An Extension Study of CACZ885N2301 (NCT02059291), Multi-center, Open Label Study of Canakinumab in Japanese Patients With Periodic Fever Syndromes (Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Hyper Immunoglobulin D Syndrome ((Also Known as Mevalonate Kinase Deficiency) (HIDS/MKD), or Colchicine Resistant/Intolerant Familial Mediterranean Fever (crFMF)) Completed NCT02911857 Phase 3
48 The Effect On Transthyretin Stabilization, Safety, Tolerablity, Efficacy And Pharmacokinetics Of Orally Administered Tafamidis In Transthyretin Amyloid Polyneuropathy Patients With V30m Or Non-v30m Transthyretin: A Phase Iii, Open-label Study Completed NCT01435655 Phase 3 tafamidis
49 A MULTICENTER, INTERNATIONAL, PHASE 3, DOUBLE-BLIND, PLACEBO-CONTROLLED, RANDOMIZED STUDY TO EVALUATE THE EFFICACY, SAFETY, AND TOLERABILITY OF DAILY ORAL DOSING OF TAFAMIDIS MEGLUMINE (PF-06291826) 20 MG OR 80 MG IN COMPARISON TO PLACEBO IN SUBJECTS DIAGNOSED WITH TRANSTHYRETIN CARDIOMYOPATHY (TTR-CM) Completed NCT01994889 Phase 3 Tafamidis;Placebo
50 Open-Label Safety And Efficacy Evaluation Of Fx-1006a In Patients With V122i Or Wild-Type Transthyretin (TTR) Amyloid Cardiomyopathy Completed NCT00935012 Phase 3 tafamidis

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Acetylcysteine
Colchicine

Cochrane evidence based reviews: amyloidosis

Sources

Genetic Tests for Amyloidosis

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Sources

Anatomical Context for Amyloidosis

About this section

Organs/tissues related to Amyloidosis:

MalaCards : Brain, Heart, Kidney, Bone, Bone Marrow, Tongue, Liver
Sources

Publications for Amyloidosis

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Articles related to Amyloidosis:

(show top 50) (show all 55807)
# Title Authors PMID Year
1
Amyloid fibril structure from the vascular variant of systemic AA amyloidosis. 62 41
36433936 2022
2
ENTAIL: yEt aNoTher amyloid fIbrils cLassifier. 41
36456900 2022
3
Gantenerumab: an anti-amyloid monoclonal antibody with potential disease-modifying effects in early Alzheimer's disease. 41
36447240 2022
4
Neprilysin impedes islet amyloid formation by inhibition of fibril formation rather than peptide degradation. 53 62
20400513 2010
5
Investigation of AGE, their receptor and NF-kappaB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis. 53 62
20376775 2010
6
Aboard transthyretin: From transport to cleavage. 53 62
20503435 2010
7
Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding. 53 62
20211733 2010
8
Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment. 53 62
20462362 2010
9
Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. 53 62
20434879 2010
10
In vivo detection of prion amyloid plaques using [(11)C]BF-227 PET. 53 62
20016895 2010
11
Ascidians: an invertebrate chordate model to study Alzheimer's disease pathogenesis. 53 62
20197417 2010
12
Abeta and human amylin share a common toxicity pathway via mitochondrial dysfunction. 53 62
20186753 2010
13
Lack of evidence for OSMR and RET gene mutations in a Chinese family with friction melanosis. 53 62
19594765 2010
14
Currents concepts on the immunopathology of amyloidosis. 53 62
19626465 2010
15
Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. 53 62
20052750 2010
16
Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. 53 62
20230749 2010
17
Transcriptional regulation of human FE65, a ligand of Alzheimer's disease amyloid precursor protein, by Sp1. 53 62
20091743 2010
18
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 53 62
19911184 2010
19
Methionine oxidation induces amyloid fibril formation by full-length apolipoprotein A-I. 53 62
20133843 2010
20
Assessing the stability of Alzheimer's amyloid protofibrils using molecular dynamics. 53 62
20055378 2010
21
Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses. 53 62
20133122 2010
22
Role of the glutamic acid 54 residue in transthyretin stability and thyroxine binding. 53 62
19950966 2010
23
A nuclear factor-binding domain in the 5'-untranslated region of the amyloid precursor protein promoter: implications for the regulation of gene expression. 53 62
20205906 2010
24
Modeling an anti-amyloid combination therapy for Alzheimer's disease. 53 62
20371462 2010
25
The 8 and 5 kDa fragments of plasma gelsolin form amyloid fibrils by a nucleated polymerization mechanism, while the 68 kDa fragment is not amyloidogenic. 53 62
19904968 2009
26
Retraction. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis. 53 62
19842787 2009
27
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 53 62
19709674 2009
28
Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. 53 62
19922329 2009
29
Chain reaction of amyloid fibril formation with induction of basement membrane in familial amyloidotic polyneuropathy. 53 62
19790249 2009
30
Expression of complement system components during aging and amyloid deposition in APP transgenic mice. 53 62
19917141 2009
31
Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. 53 62
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32
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 53 62
19701715 2009
33
Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. 53 62
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34
Transthyretin: the servant of many masters. 53 62
19644733 2009
35
Clusterin regulates transthyretin amyloidosis. 53 62
19664600 2009
36
Deletion of Irs2 reduces amyloid deposition and rescues behavioural deficits in APP transgenic mice. 53 62
19523444 2009
37
[Systemic amyloidoses in renal biopsy samples]. 53 62
19764159 2009
38
Novel transthyretin amyloid fibril formation inhibitors: synthesis, biological evaluation, and X-ray structural analysis. 53 62
19621084 2009
39
Current perspectives on familial Mediterranean fever. 53 62
19339884 2009
40
Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis. 53 62
19445625 2009
41
Outcome of renal transplant in hereditary gelsolin amyloidosis. 53 62
19440061 2009
42
Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene. 53 62
19324996 2009
43
Longitudinal regional brain volume changes quantified in normal aging and Alzheimer's APP x PS1 mice using MRI. 53 62
19272356 2009
44
[Cardiac amyloidosis--cardiovascular magnetic resonance imaging as a valuable diagnostic tool]. 53 62
19340749 2009
45
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models. 53 62
19468344 2009
46
Neprilysin deficiency-dependent impairment of cognitive functions in a mouse model of amyloidosis. 53 62
19199031 2009
47
Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis. 53 62
19235761 2009
48
Biochemical characterisation of amyloid by endomyocardial biopsy. 53 62
19291509 2009
49
A new role for the neuronal ubiquitin C-terminal hydrolase-L1 (UCH-L1) in podocyte process formation and podocyte injury in human glomerulopathies. 53 62
18985619 2009
50
Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease. 53 62
19041304 2009
Sources

Variations for Amyloidosis

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ClinVar genetic disease variations for Amyloidosis:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSN NM_198252.3(GSN):c.*120_*121insG INSERT Uncertain Significance
 364837 rs886063409 GRCh37: 9:124095001-124095002
GRCh38: 9:121332723-121332724
2 GSN NM_198252.3(GSN):c.781G>A (p.Val261Ile) SNV Uncertain Significance
 364806 rs745588757 GRCh37: 9:124079391-124079391
GRCh38: 9:121317113-121317113
3 GSN NM_198252.3(GSN):c.*97GT[11] MICROSAT Uncertain Significance
 364832 rs147410423 GRCh37: 9:124094977-124094978
GRCh38: 9:121332699-121332700
4 GSN NM_198252.3(GSN):c.*116_*117insG INSERT Uncertain Significance
 364835 rs751044080 GRCh37: 9:124094997-124094998
GRCh38: 9:121332719-121332720
5 GSN NM_198252.3(GSN):c.*136dup DUP Uncertain Significance
 364838 rs71680051 GRCh37: 9:124095003-124095004
GRCh38: 9:121332725-121332726
6 GSN NM_198252.3(GSN):c.*116_*117insGTG INSERT Uncertain Significance
 364836 rs751044080 GRCh37: 9:124094997-124094998
GRCh38: 9:121332719-121332720
7 GSN NM_198252.3(GSN):c.*124_*125insC INSERT Uncertain Significance
 364839 rs886063410 GRCh37: 9:124095005-124095006
GRCh38: 9:121332727-121332728
8 GSN NM_198252.3(GSN):c.*97_*98insGGTG INSERT Uncertain Significance
 364831 rs886063408 GRCh37: 9:124094977-124094978
GRCh38: 9:121332699-121332700
9 GSN NM_198252.3(GSN):c.*97GT[13] MICROSAT Uncertain Significance
 364834 rs147410423 GRCh37: 9:124094977-124094978
GRCh38: 9:121332699-121332700
10 DSP NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) SNV Uncertain Significance
 44939 rs397516952 GRCh37: 6:7584072-7584072
GRCh38: 6:7583839-7583839
11 CACNA1C NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) SNV Likely Benign
 568670 rs758143691 GRCh37: 12:2774094-2774094
GRCh38: 12:2664928-2664928
12 GSN NM_198252.3(GSN):c.*97GT[12] MICROSAT Benign
 364833 rs147410423 GRCh37: 9:124094977-124094978
GRCh38: 9:121332699-121332700
13 TMPO NM_001032283.3(TMPO):c.565+1696C>T SNV Benign
 192133 rs141443652 GRCh37: 12:98927312-98927312
GRCh38: 12:98533534-98533534
14 AKAP9 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) SNV Benign
 191531 rs141856443 GRCh37: 7:91732083-91732083
GRCh38: 7:92102769-92102769
Sources

Expression for Amyloidosis

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Search GEO for disease gene expression data for Amyloidosis.
Sources

Pathways for Amyloidosis

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Pathways related to Amyloidosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.74 TTR SERPINA3 SAA1 PSEN1 OSMR MEFV
2
Metabolism of proteins 66
Show member pathways
 13.5 TTR TGFBI SAA1 LYZ IAPP GSN
3
RNA Polymerase I Promoter Opening 66
Show member pathways
 12.85 TTR TGFBI SAA1 LYZ IAPP GSN
4
Neuroscience 3
12.33 APOE APP BACE1 CST3 PRNP PSEN1
5
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
Show member pathways
 12.13 FGA CST3 APP APOE APOA1
6
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.64 SAA1 APOE APOA1
7
DYRK1A 74
11.43 PSEN1 BACE1 APP
8
Copper homeostasis 74
Show member pathways
 11.37 PRNP BACE1 APP
9
Alzheimers Disease Pathway 64
11.21 PSEN1 BACE1 APP APOE
10
Glypican 1 network 61
10.82 PRNP APP
11
Advanced glycosylation endproduct receptor signaling 66
10.64 SAA1 APP
12
A-beta Plaque Formation and APP Metabolism 65
10.62 PSEN1 CST3 BACE1 APP
13
Inclusion body myositis 74
10.49 PSEN1 BACE1
14
Formyl peptide receptors bind formyl peptides and many other ligands 66
10.38 SAA1 APP
Sources

GO Terms for Amyloidosis

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Cellular components related to Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.4 APOA1 APOE APP B2M CST3 FGA
2 extracellular region GO:0005576 10.32 APOA1 APOE APP B2M CST3 FGA
3 extracellular exosome GO:0070062 10.13 APOA1 APOE APP B2M CST3 FGA
4 endoplasmic reticulum lumen GO:0005788 10.1 FGA CST3 BACE1 B2M APP APOE
5 early endosome GO:0005769 10.09 PSEN1 BACE1 APP APOE APOA1
6 blood microparticle GO:0072562 10.07 APOA1 APOE FGA GSN SERPINA3
7 tertiary granule lumen GO:1904724 9.93 LYZ CST3 B2M
8 endocytic vesicle lumen GO:0071682 9.88 SAA1 APOE APOA1
9 high-density lipoprotein particle GO:0034364 9.32 SAA4 SAA2 SAA1 APOE APOA1

Biological processes related to Amyloidosis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 10.13 SAA1 MEFV APOE APOA1
2 negative regulation of endopeptidase activity GO:0010951 10.11 APP CST3 PRNP SERPINA3
3 response to oxidative stress GO:0006979 10.08 PSEN1 PRNP APP APOE
4 learning or memory GO:0007611 10.01 PSEN1 PRNP B2M APP
5 cellular response to copper ion GO:0071280 9.93 PRNP BACE1 APP
6 cellular response to manganese ion GO:0071287 9.92 BACE1 APP
7 very-low-density lipoprotein particle remodeling GO:0034372 9.91 APOE APOA1
8 amyloid-beta formation GO:0034205 9.91 PSEN1 BACE1
9 positive regulation of CoA-transferase activity GO:1905920 9.9 APOE APOA1
10 regulation of Cdc42 protein signal transduction GO:0032489 9.89 APOE APOA1
11 high-density lipoprotein particle clearance GO:0034384 9.88 APOA1 APOE
12 lipoprotein biosynthetic process GO:0042158 9.86 APOE APOA1
13 cellular response to amyloid-beta GO:1904646 9.86 PSEN1 PRNP BACE1 APP
14 positive regulation of cholesterol metabolic process GO:0090205 9.85 APOE APOA1
15 negative regulation of long-term synaptic potentiation GO:1900272 9.85 PRNP APP APOE
16 astrocyte activation involved in immune response GO:0002265 9.81 APP PSEN1
17 positive regulation of phospholipid efflux GO:1902995 9.8 APOA1 APOE
18 neuron projection maintenance GO:1990535 9.8 APP PRNP PSEN1
19 acute-phase response GO:0006953 9.76 SERPINA3 SAA4 SAA2 SAA1
20 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.73 PSEN1 APP
21 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.65 PSEN1 APP
22 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.58 APP PSEN1
23 amyloid fibril formation GO:1990000 9.56 GSN BACE1 B2M APP
24 positive regulation of amyloid fibril formation GO:1905908 9.1 PSEN1 APP APOE

Molecular functions related to Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10 APOA1 APOE APP B2M CST3 IAPP
2 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOE APOA1
3 lipoprotein particle binding GO:0071813 9.43 APOE APOA1
4 amyloid-beta binding GO:0001540 9.4 PRNP IAPP CST3 BACE1 APOE APOA1
Sources

Sources for Amyloidosis

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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