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MCID: AMY004
MIFTS: 70

Amyloidosis

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Muscle 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 12 58 29 54 6 42 44 15 17 71 32
Amyloid Disease 12

Characteristics:

Orphanet epidemiological data:

58
amyloidosis
Age of onset: All ages;

Classifications:

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


External Ids:

Disease Ontology 12 DOID:9120
ICD9CM 34 277.3
MeSH 44 D000686
NCIt 50 C2868
SNOMED-CT 67 154769007
ICD10 32 E85 E85.9
MESH via Orphanet 45 D000686
ICD10 via Orphanet 33 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 : 42 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 al amyloidosis. An important gene associated with Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Innate Immune System. The drugs Citalopram and Antiparkinson Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and bone marrow, and related phenotypes are facial palsy and everted lower lip vermilion

Disease Ontology : 12 An acquired metabolic disease that has material basis in extracellular tissue deposition of mis-folded proteins called fibrils composed of low molecular weight subunits of a variety of proteins. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.

Wikipedia : 74 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:

Al Amyloidosis Amyloidosis Aa
Hereditary Amyloidosis Primary Localized Amyloidosis
Ah Amyloidosis

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

(show top 50) (show all 1417)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 33.5 TTR IAPP GSN B2M APP APOA1
2 al amyloidosis 33.5 TTR LYZ B2M
3 hereditary amyloidosis 33.3 TTR LYZ GSN FGA B2M APOA1
4 amyloidosis, finnish type 33.1 TTR SERPINA3 GSN APOE
5 amyloidosis aa 33.1 TTR SAA4 SAA2 SAA1 MEFV B2M
6 cerebral amyloid angiopathy, app-related 33.0 TTR SERPINA3 GSN CST3 APP APOE
7 muckle-wells syndrome 33.0 TNFRSF1A NLRP3 MEFV
8 amyloidosis, familial visceral 33.0 TTR SAA4 SAA1 MEFV LYZ IAPP
9 cerebral amyloid angiopathy, cst3-related 32.9 TTR SERPINA3 IAPP GSN CST3 APP
10 familial mediterranean fever 32.5 TNFRSF1A SAA4 SAA2 SAA1 NLRP3 MEFV
11 lichen amyloidosis 32.5 OSMR IL31RA GPNMB
12 gerstmann-straussler disease 32.5 TTR GSN APP
13 macular amyloidosis 32.5 OSMR IL31RA GPNMB
14 periodic fever, familial, autosomal dominant 32.5 TNFRSF1A NLRP3 MEFV
15 familial cold autoinflammatory syndrome 1 32.2 NLRP3 MEFV
16 hereditary cerebral amyloid angiopathy 32.1 CST3 APP
17 cinca syndrome 32.0 TNFRSF1A NLRP3 MEFV
18 adult-onset still's disease 32.0 TNFRSF1A NLRP3 MEFV
19 mevalonic aciduria 32.0 TNFRSF1A NLRP3 MEFV
20 cerebral amyloid angiopathy, itm2b-related, 1 31.8 SERPINA3 GSN CST3 APP
21 pericardial effusion 31.3 TTR TNFRSF1A NLRP3
22 amyloid neuropathy 31.2 TTR GSN APOA1
23 amyloid tumor 31.2 TTR B2M
24 hereditary periodic fever syndrome 31.1 TNFRSF1A NLRP3 MEFV
25 chronic kidney disease 31.1 TTR SERPINA3 CST3 B2M APOE APOA1
26 hyper-igd syndrome 31.1 TNFRSF1A SAA1
27 cryopyrin-associated periodic syndrome 31.1 SAA4 NLRP3
28 alzheimer disease 31.1 TTR SERPINA3 IAPP CST3 APP APOE
29 kidney disease 31.0 TTR SERPINA3 MEFV CST3 B2M APOE
30 hemorrhage, intracerebral 31.0 CST3 APP APOE
31 peritonitis 31.0 NLRP3 MEFV B2M
32 mild cognitive impairment 31.0 CST3 APP APOE
33 wells syndrome 30.8 TNFRSF1A NLRP3 MEFV
34 heart disease 30.7 TTR TNFRSF1A MEFV GSN CST3 APOE
35 scrapie 30.6 SERPINA3 APP APOE
36 blepharochalasis 30.5 TTR SERPINA3 GSN
37 dementia 30.5 TTR SERPINA3 CST3 APP APOE
38 arteriosclerosis 30.5 TTR CST3 APOE APOA1
39 creutzfeldt-jakob disease 30.4 SERPINA3 CST3 B2M APP APOE
40 familial cold autoinflammatory syndrome 2 30.4 NLRP3 MEFV
41 hydrocephalus 30.4 TTR SERPINA3 APP APOE
42 inclusion body myositis 30.4 SERPINA3 APP APOE
43 type 2 diabetes mellitus 30.4 TTR TNFRSF1A SAA1 NLRP3 IAPP CST3
44 periarthritis 30.4 MEFV B2M
45 familial cold autoinflammatory syndrome 30.3 SAA1 NLRP3 MEFV
46 stroke, ischemic 30.2 TNFRSF1A SERPINA3 FGA CST3 APOE
47 aortic aneurysm, familial abdominal, 1 30.1 TNFRSF1A SERPINA3 CST3 APOE
48 diabetes mellitus 30.1 TTR TNFRSF1A IAPP FGA CST3 B2M
49 cerebrovascular disease 30.1 TTR SERPINA3 FGA APP APOE APOA1
50 meningoencephalitis 30.1 SERPINA3 B2M APP

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


Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease

Graphical network of the top 20 diseases related to Amyloidosis:



Diseases related to Amyloidosis
Sources

Symptoms & Phenotypes for Amyloidosis

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Human phenotypes related to Amyloidosis:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
2 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
3 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
4 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
5 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
6 abnormality of the immune system 58 31 hallmark (90%) Very frequent (99-80%) HP:0002715
7 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
8 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
9 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
10 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
11 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
12 abnormality of the cardiovascular system 58 31 frequent (33%) Frequent (79-30%) HP:0001626
13 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
14 morphological abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0012718
15 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
16 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
17 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
18 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
19 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
20 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
21 ureteral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000071
22 alopecia of scalp 31 occasional (7.5%) HP:0002293
23 abnormality of the eye 58 Occasional (29-5%)
24 abnormality of nervous system morphology 58 Frequent (79-30%)
25 scalp hair loss 58 Occasional (29-5%)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.1 GSN
2 Decreased viability GR00055-A-2 10.1 GSN
3 Decreased viability GR00055-A-3 10.1 GSN
4 Decreased viability GR00106-A-0 10.1 TNFRSF1A
5 Decreased viability GR00240-S-1 10.1 MEFV SAA2 SAA4
6 Decreased viability GR00249-S 10.1 MEFV SERPINA3 TNFRSF1A TTR
7 Decreased viability GR00381-A-1 10.1 MEFV SAA1
8 Decreased viability GR00381-A-3 10.1 SAA1
9 Decreased viability GR00386-A-1 10.1 APOE B2M FGA GPNMB NLRP3 OSMR
10 Decreased viability GR00402-S-2 10.1 CST3 FGA GPNMB IL31RA TNFRSF1A
11 Increased the percentage of infected cells GR00402-S-1 8.32 LYZ

MGI Mouse Phenotypes related to Amyloidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 APOA1 APOE APP B2M CST3 FGA
2 cardiovascular system MP:0005385 10.22 APOA1 APOE APP B2M CST3 FGA
3 hematopoietic system MP:0005397 10.22 APOE APP B2M FGA GPNMB GSN
4 cellular MP:0005384 10.2 APOA1 APOE APP B2M CST3 FGA
5 immune system MP:0005387 10.13 APOE APP B2M FGA GPNMB GSN
6 integument MP:0010771 10.03 APOA1 APOE APP B2M FGA GSN
7 digestive/alimentary MP:0005381 9.98 APOE B2M FGA LYZ NLRP3 TNFRSF1A
8 liver/biliary system MP:0005370 9.81 APOA1 APOE B2M FGA LYZ MEFV
9 reproductive system MP:0005389 9.65 APOE APP B2M CST3 FGA GSN
10 skeleton MP:0005390 9.32 APOE APP FGA GSN IAPP IL31RA
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 194)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2 Antiparkinson Agents Phase 4
3 Parasympatholytics Phase 4
4 Muscarinic Antagonists Phase 4
5 Cholinergic Antagonists Phase 4
6 Psychotropic Drugs Phase 4
7 Antidepressive Agents Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9 Cholinergic Agents Phase 4
10 Paraproteins Phase 4
11 Immunoglobulins, Intravenous Phase 4
12 Myeloma Proteins Phase 4
13 Fluorides Phase 4
14
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
15
Colchicine Approved Phase 3 64-86-8 6167 2833
16
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
17
Lenalidomide Approved Phase 3 191732-72-6 216326
18
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
19
Ixazomib Approved, Investigational Phase 3 1072833-77-2
20
Lenograstim Approved, Investigational Phase 3 135968-09-1
21
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
22
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
23 Flutemetamol Investigational Phase 3 637003-10-2
24
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
25 Molgramostim Investigational Phase 3 99283-10-0
26 Cyclooxygenase Inhibitors Phase 2, Phase 3
27 Liver Extracts Phase 3
28 Radiopharmaceuticals Phase 3
29 Anti-Infective Agents Phase 3
30 Antiparasitic Agents Phase 3
31 Antiprotozoal Agents Phase 3
32 Antiviral Agents Phase 3
33 Anti-Bacterial Agents Phase 3
34 Antimalarials Phase 3
35 Antirheumatic Agents Phase 3
36 Angiogenesis Inhibitors Phase 3
37 HIV Protease Inhibitors Phase 3
38
protease inhibitors Phase 3
39 Pharmaceutical Solutions Phase 3
40 Antibodies, Monoclonal Phase 3
41 Adjuvants, Immunologic Phase 3
42 Immunoglobulin G Phase 3
43
Mesna Approved, Investigational Phase 2 3375-50-6 598
44
Busulfan Approved, Investigational Phase 2 55-98-1 2478
45
Iodine Approved, Investigational Phase 2 7553-56-2 807
46
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
47
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
48
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
49
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
50
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401

Interventional clinical trials:

(show top 50) (show all 344)
# 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 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
3 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
4 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
5 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
6 Ultrasound Therapy In Cardiac Amyloidosis Not yet recruiting NCT04667494 Phase 4
7 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Terminated NCT03040427 Phase 4 F-18 florbetapir
8 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;Tafamidis;Placebo
9 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
10 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
11 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
12 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
13 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
14 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
15 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
16 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
17 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)
18 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
19 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)
20 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
21 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)
22 OPEN-LABEL SAFETY AND EFFICACY EVALUATION OF FX-1006A IN SUBJECTS WITH TRANSTHYRETIN (TTR) AMYLOIDOSIS Completed NCT00925002 Phase 3 Tafamidis
23 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
24 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
25 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
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 A PHASE 3 MULTICENTER, OPEN-LABEL STUDY TO EVALUATE THE SAFETY OF DAILY ORAL DOSING OF TAFAMIDIS MEGLUMINE (PF-06291826-83) 20 MG OR 80 MG [OR TAFAMIDIS (PF-06291826-00) 61 MG] IN SUBJECTS DIAGNOSED WITH TRANSTHYRETIN CARDIOMYOPATHY (ATTR-CM) Recruiting NCT02791230 Phase 3 Tafamidis
34 APOLLO-B: A Phase 3, Randomized, Double-blind, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Patisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy (ATTR Amyloidosis With Cardiomyopathy) Recruiting NCT03997383 Phase 3 Placebo;Patisiran
35 HELIOS-B: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy (ATTR Amyloidosis With Cardiomyopathy) Recruiting NCT04153149 Phase 3 Vutrisiran;Sterile Normal Saline (0.9% NaCl)
36 A Randomized Phase II/III Trial of Doxycycline vs. Standard Supportive Therapy in Newly-diagnosed Cardiac AL Amyloidosis Patients Undergoing Bortezomib-based Therapy Recruiting NCT03474458 Phase 2, Phase 3 Doxycycline;Standard of care therapy
37 Frontline Lenalidomide for AL Amyloidosis Involving Myocardium: Investigation of Organ Reversing Capacity of Lenalidomide Recruiting NCT04298372 Phase 3 Lenalidomide 25mg
38 A Phase 3, Double-Blind, Multicenter Study to Evaluate the Efficacy and Safety of CAEL-101 and Plasma Cell Dyscrasia Treatment Versus Placebo and Plasma Cell Dyscrasia Treatment in Plasma Cell Dyscrasia Treatment Naïve Patients With Mayo Stage IIIa AL Amyloidosis Recruiting NCT04512235 Phase 3 CAEL-101;cyclophosphamide, bortezomib, and dexamethasone (CyBorD)
39 A Phase 3, Double-Blind, Multicenter Study to Evaluate the Efficacy and Safety of CAEL-101 and Plasma Cell Dyscrasia Treatment Versus Placebo and Plasma Cell Dyscrasia Treatment in Plasma Cell Dyscrasia Treatment Naïve Patients With Mayo Stage IIIb AL Amyloidosis Recruiting NCT04504825 Phase 3 CAEL-101;cyclophosphamide, bortezomib, and Dexamethasone (CyBorD)
40 MRI-visible Enlarged Perivascular Spaces and the Alteration of Lymphatic Drainage System in Cerebral Amyloid Angiopathy Recruiting NCT04604587 Phase 3 1. amyloid PET；2. T807 PET
41 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PET；2. T807 PET
42 A Phase 3 Global, Open-Label, Randomized Study to Evaluate the Efficacy and Safety of ION-682884 in Patients With Hereditary Transthyretin-Mediated Amyloid Polyneuropathy Recruiting NCT04136184 Phase 3 AKCEA-TTR-LRx;Inotersen
43 A Phase 3 Global, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ION-682884 in Patients With Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR CM) Recruiting NCT04136171 Phase 3 AKCEA-TTR-LRx;Placebo
44 AHEAD 3-45 Study: A Placebo-Controlled, Double-Blind, Parallel-Treatment Arm, 216 Week Study to Evaluate Efficacy and Safety of Treatment With BAN2401 in Subjects With Preclinical Alzheimer's Disease and Elevated Amyloid (A45 Trial) and in Subjects With Early Preclinical Alzheimer's Disease and Intermediate Amyloid (A3 Trial) Recruiting NCT04468659 Phase 3 Lecanemab;Placebo
45 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects With Symptomatic Transthyretin Amyloid Polyneuropathy (ATTRibute-PN Trial) Recruiting NCT04418024 Phase 3 AG10;Placebo
46 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)
47 A Phase III Randomized Study of Doxycycline and Tauroursodeoxycholic Acid (Doxy/TUDCA) Plus Standard Supportive Therapy Versus Standard Supportive Therapy Alone in Cardiac Amyloidosis Caused by Transthyretin Active, not recruiting NCT03481972 Phase 3 Doxycycline and tauroursodeoxycholic acid;Standard of care
48 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 Active, not recruiting NCT02510261 Phase 3 Patisiran (ALN-TTR02)
49 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 Active, not recruiting NCT01659658 Phase 3 IXAZOMIB;Dexamethasone;Melphalan;Cyclophosphamide;Thalidomide;Lenalidomide
50 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects With Symptomatic Transthyretin Amyloid Cardiomyopathy (ATTRIBUTE-CM Trial) Active, not recruiting NCT03860935 Phase 3 AG10;Placebo Oral Tablet

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Acetylcysteine
Colchicine

Cochrane evidence based reviews: amyloidosis

Sources

Genetic Tests for Amyloidosis

About this section

Genetic tests related to Amyloidosis:

# Genetic test Affiliating Genes
1 Amyloidosis 29
Sources

Anatomical Context for Amyloidosis

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MalaCards organs/tissues related to Amyloidosis:

40
Kidney, Skin, Bone Marrow, Spleen, Tongue, Thyroid, Liver
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Publications for Amyloidosis

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Articles related to Amyloidosis:

(show top 50) (show all 23456)
# Title Authors PMID Year
1
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. 42 61
33212063 2021
2
Tracheobronchial amyloidosis in primary Sjögren syndrome: A case report. 61 42
33120855 2020
3
57-Year-Old Woman With Fatigue and Dyspnea. 42
33276845 2020
4
Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment. 61 54
20462362 2010
5
Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding. 54 61
20211733 2010
6
Investigation of AGE, their receptor and NF-kappaB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis. 61 54
20376775 2010
7
Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. 54 61
20434879 2010
8
In vivo detection of prion amyloid plaques using [(11)C]BF-227 PET. 54 61
20016895 2010
9
Lack of evidence for OSMR and RET gene mutations in a Chinese family with friction melanosis. 61 54
19594765 2010
10
Currents concepts on the immunopathology of amyloidosis. 61 54
19626465 2010
11
Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. 54 61
20052750 2010
12
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 61 54
19911184 2010
13
Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses. 61 54
20133122 2010
14
Role of the glutamic acid 54 residue in transthyretin stability and thyroxine binding. 61 54
19950966 2010
15
Modeling an anti-amyloid combination therapy for Alzheimer's disease. 54 61
20371462 2010
16
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. 54 61
19904968 2009
17
Retraction. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis. 61 54
19842787 2009
18
Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. 61 54
19922329 2009
19
Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. 54 61
19861125 2009
20
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 61 54
19701715 2009
21
Clusterin regulates transthyretin amyloidosis. 54 61
19664600 2009
22
Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. 54 61
19781421 2009
23
[Systemic amyloidoses in renal biopsy samples]. 54 61
19764159 2009
24
Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis. 54 61
19445625 2009
25
Current perspectives on familial Mediterranean fever. 61 54
19339884 2009
26
Outcome of renal transplant in hereditary gelsolin amyloidosis. 54 61
19440061 2009
27
Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene. 61 54
19324996 2009
28
[Cardiac amyloidosis--cardiovascular magnetic resonance imaging as a valuable diagnostic tool]. 61 54
19340749 2009
29
Neprilysin deficiency-dependent impairment of cognitive functions in a mouse model of amyloidosis. 61 54
19199031 2009
30
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models. 54 61
19468344 2009
31
Biochemical characterisation of amyloid by endomyocardial biopsy. 54 61
19291509 2009
32
Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis. 54 61
19235761 2009
33
Enhanced transthyretin tetramer stability following expression of an amyloid disease transsuppressor variant in mammalian cells. 54 61
19065606 2009
34
Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. 54 61
19033248 2009
35
A new role for the neuronal ubiquitin C-terminal hydrolase-L1 (UCH-L1) in podocyte process formation and podocyte injury in human glomerulopathies. 61 54
18985619 2009
36
Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease. 54 61
19041304 2009
37
[Familial transthyretin amyloidosis]. 54 61
20143571 2009
38
A molecular correlate of clinicopathology in transthyretin amyloidosis. 54 61
19061244 2009
39
Immunotargeting of apolipoprotein E in amyloid: an initial trial in mice. 61 54
19429798 2009
40
Prevention of amyloidosis in familial Mediterranean fever with colchicine: a case-control study in Armenia. 54 61
19797919 2009
41
Iodine atoms: a new molecular feature for the design of potent transthyretin fibrillogenesis inhibitors. 61 54
19125186 2009
42
Granular assembly of alpha-synuclein leading to the accelerated amyloid fibril formation with shear stress. 54 61
19137068 2009
43
Trapping the monomer of a non-amyloidogenic variant of transthyretin: exploring its possible use as a therapeutic strategy against transthyretin amyloidogenic diseases. 54 61
18984591 2009
44
MEFV mutations in Japanese rheumatoid arthritis patients. 61 54
19210876 2008
45
Matrix metalloproteinases and their tissue inhibitors in cardiac amyloidosis: relationship to structural, functional myocardial changes and to light chain amyloid deposition. 61 54
19808299 2008
46
Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence for a proximal role in Alzheimer's disease. 61 54
19036982 2008
47
Specific pathogen free conditions prevent transthyretin amyloidosis in mouse models. 61 54
18357510 2008
48
Overexpression of neprilysin reduces alzheimer amyloid-beta42 (Abeta42)-induced neuron loss and intraneuronal Abeta42 deposits but causes a reduction in cAMP-responsive element-binding protein-mediated transcription, age-dependent axon pathology, and premature death in Drosophila. 54 61
18463098 2008
49
Effect of etanercept on serum amyloid A protein (SAA) levels in patients with AA amyloidosis complicating inflammatory arthritis. 61 54
18379834 2008
50
Quantification of the thermodynamically linked quaternary and tertiary structural stabilities of transthyretin and its disease-associated variants: the relationship between stability and amyloidosis. 54 61
18537267 2008
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Variations for Amyloidosis

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ClinVar genetic disease variations for Amyloidosis:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GSN NM_001127666.2(GSN):c.*116_*117insGTG Insertion Uncertain significance 364836 rs751044080 9:124094997-124094998 9:121332719-121332720
2 GSN NM_001127666.2(GSN):c.*124_*125insC Insertion Uncertain significance 364839 rs886063410 9:124095005-124095006 9:121332727-121332728
3 GSN NM_001127666.2(GSN):c.*97_*98insGGTG Insertion Uncertain significance 364831 rs886063408 9:124094977-124094978 9:121332699-121332700
4 GSN NM_001127666.2(GSN):c.*97_*98GT[13] Microsatellite Uncertain significance 364834 rs147410423 9:124094977-124094978 9:121332699-121332700
5 DSP NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) SNV Uncertain significance 44939 rs397516952 6:7584072-7584072 6:7583839-7583839
6 GSN NM_001127666.2(GSN):c.*120_*121insG Insertion Uncertain significance 364837 rs886063409 9:124095001-124095002 9:121332723-121332724
7 GSN NM_001127666.2(GSN):c.814G>A (p.Val272Ile) SNV Uncertain significance 364806 rs745588757 9:124079391-124079391 9:121317113-121317113
8 GSN NM_001127666.2(GSN):c.*97_*98GT[11] Microsatellite Uncertain significance 364832 rs147410423 9:124094977-124094978 9:121332699-121332700
9 GSN NM_001127666.2(GSN):c.*116_*117insG Insertion Uncertain significance 364835 rs751044080 9:124094997-124094998 9:121332719-121332720
10 GSN NM_001127666.2(GSN):c.*136dup Duplication Uncertain significance 364838 rs71680051 9:124095003-124095004 9:121332725-121332726
11 CACNA1C NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) SNV Likely benign 568670 rs758143691 12:2774094-2774094 12:2664928-2664928
12 TMPO NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) SNV Benign 192133 rs141443652 12:98927312-98927312 12:98533534-98533534
13 AKAP9 NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His) SNV Benign 191531 rs141856443 7:91732083-91732083 7:92102769-92102769
14 GSN NM_001127666.2(GSN):c.*97_*98GT[12] Microsatellite Benign 364833 rs147410423 9:124094977-124094978 9:121332699-121332700
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Expression for Amyloidosis

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Search GEO for disease gene expression data for Amyloidosis.
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Pathways for Amyloidosis

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Pathways related to Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.41 TTR SAA1 LYZ IAPP GSN FGA
2
Innate Immune System 65
Show member pathways
 13.39 TTR TNFRSF1A SERPINA3 SAA1 OSMR NLRP3
3
Metabolism of proteins 65
Show member pathways
 13.32 TTR SAA1 NLRP3 LYZ IAPP GSN
4
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 65
Show member pathways
 11.64 NLRP3 MEFV APP
5
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.56 SAA1 APOE APOA1
6
Folate Metabolism 1
Show member pathways
 11.43 SERPINA3 SAA4 SAA2 SAA1 APOE APOA1
7
Advanced glycosylation endproduct receptor signaling 65
10.44 SAA1 APP
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GO Terms for Amyloidosis

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.03 TTR TNFRSF1A SERPINA3 LYZ IAPP GSN
2 extracellular exosome GO:0070062 9.97 TTR SERPINA3 SAA4 SAA2 SAA1 LYZ
3 cell surface GO:0009986 9.96 TNFRSF1A FGA B2M APP APOA1
4 receptor complex GO:0043235 9.81 TNFRSF1A OSMR IL31RA APP
5 endoplasmic reticulum lumen GO:0005788 9.8 FGA CST3 B2M APP APOE APOA1
6 blood microparticle GO:0072562 9.77 SERPINA3 GSN FGA APOE APOA1
7 secretory granule lumen GO:0034774 9.74 SERPINA3 GSN APOA1
8 azurophil granule lumen GO:0035578 9.7 TTR SERPINA3 LYZ
9 platelet alpha granule lumen GO:0031093 9.67 SERPINA3 FGA APP
10 tertiary granule lumen GO:1904724 9.65 LYZ CST3 B2M
11 endocytic vesicle lumen GO:0071682 9.58 SAA1 APOE APOA1
12 low-density lipoprotein particle GO:0034362 9.55 APOE APOA1
13 chylomicron GO:0042627 9.54 APOE APOA1
14 extracellular region GO:0005576 9.53 TTR TNFRSF1A SERPINA3 SAA4 SAA2 SAA1
15 intermediate-density lipoprotein particle GO:0034363 9.46 APOE APOA1
16 discoidal high-density lipoprotein particle GO:0034365 9.43 APOE APOA1
17 high-density lipoprotein particle GO:0034364 9.35 SAA4 SAA2 SAA1 APOE APOA1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.95 TNFRSF1A SAA1 OSMR IL31RA
2 inflammatory response GO:0006954 9.95 TNFRSF1A SERPINA3 NLRP3 MEFV LYZ
3 innate immune response GO:0045087 9.95 SAA1 NLRP3 MEFV FGA B2M APP
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 GPNMB FGA APP APOE
5 post-translational protein modification GO:0043687 9.85 FGA CST3 APP APOE APOA1
6 cholesterol metabolic process GO:0008203 9.82 APP APOE APOA1
7 defense response GO:0006952 9.8 TNFRSF1A NLRP3 IL31RA CST3
8 neutrophil degranulation GO:0043312 9.8 TTR SERPINA3 LYZ GSN CST3 B2M
9 retinoid metabolic process GO:0001523 9.74 TTR APOE APOA1
10 negative regulation of interleukin-1 beta production GO:0032691 9.69 NLRP3 MEFV APOA1
11 platelet degranulation GO:0002576 9.67 SERPINA3 FGA APP APOA1
12 positive regulation of lipid biosynthetic process GO:0046889 9.66 APOE APOA1
13 reverse cholesterol transport GO:0043691 9.65 APOE APOA1
14 high-density lipoprotein particle remodeling GO:0034375 9.65 APOE APOA1
15 negative regulation of long-term synaptic potentiation GO:1900272 9.64 APP APOE
16 high-density lipoprotein particle assembly GO:0034380 9.63 APOE APOA1
17 negative regulation of amyloid fibril formation GO:1905907 9.63 IAPP APOE
18 phospholipid efflux GO:0033700 9.62 APOE APOA1
19 chylomicron assembly GO:0034378 9.62 APOE APOA1
20 high-density lipoprotein particle clearance GO:0034384 9.61 APOE APOA1
21 modulation of age-related behavioral decline GO:0090647 9.61 B2M APP
22 very-low-density lipoprotein particle remodeling GO:0034372 9.6 APOE APOA1
23 chylomicron remodeling GO:0034371 9.59 APOE APOA1
24 positive regulation of cholesterol esterification GO:0010873 9.58 APOE APOA1
25 regulation of Cdc42 protein signal transduction GO:0032489 9.56 APOE APOA1
26 regulation of tissue remodeling GO:0034103 9.54 GPNMB CST3
27 lipoprotein biosynthetic process GO:0042158 9.52 APOE APOA1
28 acute-phase response GO:0006953 9.46 SERPINA3 SAA4 SAA2 SAA1
29 positive regulation of amyloid fibril formation GO:1905908 9.43 APP APOE
30 amyloid fibril formation GO:1990000 9.43 GSN B2M APP
31 negative regulation of inflammatory response GO:0050728 9.43 TNFRSF1A SAA1 NLRP3 MEFV APOE APOA1
32 positive regulation of phospholipid efflux GO:1902995 9.4 APOE APOA1
33 cellular protein metabolic process GO:0044267 9.36 TTR SAA1 LYZ IAPP GSN FGA

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.72 IAPP FGA APP APOE APOA1
2 heparin binding GO:0008201 9.46 SAA1 GPNMB APP APOE
3 lipoprotein particle binding GO:0071813 9.37 APOE APOA1
4 identical protein binding GO:0042802 9.36 TTR TNFRSF1A NLRP3 MEFV LYZ IAPP
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOE APOA1
6 amyloid-beta binding GO:0001540 9.26 IAPP CST3 APOE APOA1
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Sources for Amyloidosis

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 05-Mar-2021)
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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