MCID: AMY004
MIFTS: 70

Amyloidosis

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyloidosis

MalaCards integrated aliases for Amyloidosis:

Name: Amyloidosis 12 58 29 54 6 42 43 15 17 71 32
Amyloid Disease 12

Characteristics:

Orphanet epidemiological data:

58
amyloidosis
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:9120
ICD9CM 34 277.3
MeSH 43 D000686
NCIt 49 C2868
SNOMED-CT 67 17602002
ICD10 32 E85 E85.9
MESH via Orphanet 44 D000686
ICD10 via Orphanet 33 E85.0 E85.1 E85.2 more
UMLS via Orphanet 72 C0002726
Orphanet 58 ORPHA69
UMLS 71 C0002726

Summaries for Amyloidosis

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 al amyloidosis and amyloidosis, hereditary, transthyretin-related. An important gene associated with Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs Colchicine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are everted lower lip vermilion and palpebral edema

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...

Related Diseases for Amyloidosis

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 1396)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 35.4 LYZ B2M
2 amyloidosis, hereditary, transthyretin-related 35.3 TTR IAPP GSN B2M APP APOA1
3 hereditary amyloidosis 35.1 TTR LYZ GSN FGA B2M APOA1
4 amyloidosis, finnish type 35.0 TTR SERPINA3 GSN CST3 APOE
5 amyloidosis aa 35.0 TTR SAA4 SAA2 SAA1 MEFV B2M
6 amyloidosis, familial visceral 34.7 TTR SAA4 SAA1 MEFV LYZ IAPP
7 muckle-wells syndrome 34.5 TNFRSF1A NLRP3 MEFV
8 lichen amyloidosis 34.5 OSMR IL31RA GPNMB
9 macular amyloidosis 34.5 OSMR IL31RA GPNMB
10 cerebral amyloid angiopathy, app-related 34.3 SERPINA3 GSN CST3 APP APOE
11 cerebral amyloid angiopathy, cst3-related 34.3 TTR SERPINA3 GSN CST3 APP APOE
12 periodic fever, familial, autosomal dominant 33.9 TNFRSF1A NLRP3 MEFV
13 familial mediterranean fever 33.8 TNFRSF1A SAA4 SAA2 SAA1 NLRP3 MEFV
14 familial cold autoinflammatory syndrome 1 33.3 NLRP3 MEFV
15 hereditary cerebral amyloid angiopathy 33.3 CST3 APP
16 cinca syndrome 33.2 TNFRSF1A NLRP3 MEFV
17 adult-onset still's disease 33.1 TNFRSF1A NLRP3 MEFV
18 mevalonic aciduria 33.1 TNFRSF1A NLRP3 MEFV
19 cerebral amyloid angiopathy, itm2b-related, 1 33.0 SERPINA3 GSN CST3 APP
20 polyneuropathy 32.2 TTR GSN B2M APOA1
21 hereditary periodic fever syndrome 32.1 TNFRSF1A NLRP3 MEFV
22 hyper-igd syndrome 32.1 TNFRSF1A SAA1
23 cryopyrin-associated periodic syndrome 32.1 SAA4 NLRP3
24 plasma cell neoplasm 31.9 TTR SERPINA3 B2M
25 peripheral nervous system disease 31.6 TTR SERPINA3 B2M APP
26 pericardial effusion 31.5 TTR TNFRSF1A NLRP3
27 kidney disease 31.5 TTR SERPINA3 CST3 B2M APOE APOA1
28 amyloid tumor 31.5 TTR B2M
29 hemorrhage, intracerebral 31.3 CST3 APP APOE
30 familial cold autoinflammatory syndrome 2 31.2 NLRP3 MEFV
31 alzheimer disease 31.2 TTR TNFRSF1A SERPINA3 SAA1 GSN CST3
32 chronic kidney disease 31.2 TTR SERPINA3 CST3 B2M APOE APOA1
33 wells syndrome 31.1 TNFRSF1A NLRP3 MEFV
34 peritonitis 31.1 NLRP3 MEFV B2M
35 prion disease 30.9 SERPINA3 IAPP CST3 APP APOE
36 dementia 30.9 TTR SERPINA3 CST3 APP APOE
37 scrapie 30.8 SERPINA3 APP APOE
38 blepharochalasis 30.7 SERPINA3 GSN
39 diabetes mellitus 30.7 TTR TNFRSF1A IAPP FGA CST3 B2M
40 arteriosclerosis 30.7 TTR CST3 APOE APOA1
41 hydrocephalus 30.7 TTR SERPINA3 APP APOE
42 creutzfeldt-jakob disease 30.6 SERPINA3 CST3 B2M APP APOE
43 familial cold autoinflammatory syndrome 30.6 SAA1 NLRP3 MEFV
44 inclusion body myositis 30.6 SERPINA3 APP APOE
45 stroke, ischemic 30.4 TNFRSF1A SERPINA3 FGA CST3 APOE
46 acquired immunodeficiency syndrome 30.4 TNFRSF1A B2M APOE APOA1
47 aortic aneurysm, familial abdominal, 1 30.4 SERPINA3 CST3 APOE
48 autonomic peripheral neuropathy 30.3 TTR GSN
49 meningoencephalitis 30.3 SERPINA3 B2M APP
50 senile plaque formation 30.3 APP APOE

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

Symptoms & Phenotypes for Amyloidosis

Human phenotypes related to Amyloidosis:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
2 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
3 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
4 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
5 abnormality of the immune system 58 31 hallmark (90%) Very frequent (99-80%) HP:0002715
6 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
7 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
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 morphological abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0012718
14 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 APOA1 APOE APP B2M CST3 FGA
2 cellular MP:0005384 10.22 APOA1 APOE APP B2M CST3 FGA
3 hematopoietic system MP:0005397 10.22 APOE APP B2M FGA GPNMB GSN
4 cardiovascular system MP:0005385 10.19 APOA1 APOE APP B2M CST3 FGA
5 immune system MP:0005387 10.13 APOE APP B2M FGA GPNMB GSN
6 endocrine/exocrine gland MP:0005379 10.09 APOA1 APOE B2M CST3 FGA GSN
7 integument MP:0010771 10.03 APOA1 APOE APP B2M FGA GSN
8 digestive/alimentary MP:0005381 10 APOE B2M FGA LYZ NLRP3 TNFRSF1A
9 liver/biliary system MP:0005370 9.81 APOA1 APOE B2M FGA LYZ MEFV
10 reproductive system MP:0005389 9.65 APOE APP B2M CST3 FGA GSN
11 skeleton MP:0005390 9.28 APOE FGA GSN IAPP IL31RA LYZ

Drugs & Therapeutics for Amyloidosis

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

(show top 50) (show all 280)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 4 64-86-8 2833 6167
2
Citalopram Approved Phase 4 59729-33-8 2771
3 Antiparkinson Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Tubulin Modulators Phase 4
6 Antimitotic Agents Phase 4
7 Antidepressive Agents Phase 4
8 Parasympatholytics Phase 4
9 Cholinergic Agents Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Psychotropic Drugs Phase 4
12 Muscarinic Antagonists Phase 4
13 Cholinergic Antagonists Phase 4
14 Fluorides Phase 4
15 Omega 3 Fatty Acid Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
18
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
20
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
21
Ondansetron Approved Phase 3 99614-02-5 4595
22
Dalteparin Approved Phase 3 9005-49-6
23
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
24
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
25
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
26
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
27
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
28
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
29
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
30
Lenalidomide Approved Phase 3 191732-72-6 216326
31
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
32
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
33
Daratumumab Approved Phase 3 945721-28-8
34
Ixazomib Approved, Investigational Phase 3 1072833-77-2
35
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
36
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
37
Melphalan Approved Phase 3 148-82-3 460612 4053
38
Lenograstim Approved, Investigational Phase 3 135968-09-1
39
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
40
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
41
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
42
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
43 Flutemetamol Investigational Phase 3 637003-10-2
44 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
45
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
46 Molgramostim Investigational Phase 3 99283-10-0
47 Anesthetics, Dissociative Phase 3
48 Antiparasitic Agents Phase 3
49 Antiprotozoal Agents Phase 3
50 Anti-Bacterial Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 419)
# Name Status NCT ID Phase Drugs
1 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With Familial Mediterranean Fever: A Randomized Trial Completed NCT02602028 Phase 4 colchicine
2 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
3 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
4 A Pilot Study to Evaluate 18F Florbetapir Binding to Cardiac Amyloid in Patients Undergoing Chemotherapy Not yet recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
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) Not yet recruiting NCT04306510 Phase 4
6 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Terminated NCT03040427 Phase 4 F-18 florbetapir
7 Protocol for a Randomized, Placebo-Controlled, Double-Blinded Trial to Study the Effects of Supplementary Omega-3 Fatty Acids on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
8 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
9 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
10 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
11 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)
12 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)
13 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
14 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
15 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)
16 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
17 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
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 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 Stem Cell Transplant as Standard Therapy for Symptomatic Multiple Myeloma Completed NCT00004165 Phase 3 melphalan
29 A Randomized Placebo-Controlled Study of the Efficacy and Safety of Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
30 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
31 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
32 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
33 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
34 Phase III, Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Ondansetron in the Control of Chronic Nausea and Vomiting Not Due to Antineoplastic Therapy in Patients With Advanced Cancer Completed NCT00006348 Phase 3 ondansetron
35 A Phase III Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effects of Fragmin (5,000 IU Subcutaneously) in Preventing Catheter-Related Complications When Given Daily to Cancer Patients With Central Venous Catheters Completed NCT00006083 Phase 3 Fragmin
36 A Phase III Double-Blind Equivalence Study of Two Different Formulations of Slow-Release Morphine Followed by a Randomization Between Dextromethorphan or Placebo Plus Statex SR for Chronic Cancer Pain Relief in Terminally Ill Patients Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
37 A Randomized, Open-Label, Multicenter Study Of Darbepoetin Alfa Administered Once Every Two Weeks (Q2W) Compared With rHuEPO Administered Once Every Week (QW) For The Treatment Of Anemia In Subjects With Non-Myeloid Malignancies Receiving Multiple Chemotherapy Completed NCT00070382 Phase 3 darbepoetin alfa;epoetin alfa
38 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
39 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
40 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
41 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
42 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
43 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
44 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
45 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
46 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)
47 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
48 Frontline Lenalidomide for AL Amyloidosis Involving Myocardium: Investigation of Organ Reversing Capacity of Lenalidomide Recruiting NCT04298372 Phase 3 Lenalidomide 25mg
49 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
50 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

Search NIH Clinical Center for Amyloidosis

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


Acetylcysteine
Colchicine

Cochrane evidence based reviews: amyloidosis

Genetic Tests for Amyloidosis

Genetic tests related to Amyloidosis:

# Genetic test Affiliating Genes
1 Amyloidosis 29

Anatomical Context for Amyloidosis

MalaCards organs/tissues related to Amyloidosis:

40
Heart, Kidney, Liver, Brain, Bone, Lung, Skin

Publications for Amyloidosis

Articles related to Amyloidosis:

(show top 50) (show all 22597)
# Title Authors PMID Year
1
Primary thymic mucosa-associated lymphoid tissue lymphoma complicated with renal amyloidosis: A first case report. 42 61
32221068 2020
2
Fecal calprotectin levels are elevated in transthyretin amyloidosis patients with gastrointestinal manifestations. 61 42
32176096 2020
3
Case 11-2020: A 37-Year-Old Man with Facial Droop, Dysarthria, and Kidney Failure. 42
32268031 2020
4
Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging: an observational cohort study. 61 54
20434879 2010
5
Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment. 54 61
20462362 2010
6
Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding. 61 54
20211733 2010
7
Investigation of AGE, their receptor and NF-kappaB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis. 61 54
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In vivo detection of prion amyloid plaques using [(11)C]BF-227 PET. 54 61
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Lack of evidence for OSMR and RET gene mutations in a Chinese family with friction melanosis. 61 54
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Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. 61 54
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Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 61 54
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Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses. 61 54
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Role of the glutamic acid 54 residue in transthyretin stability and thyroxine binding. 54 61
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Modeling an anti-amyloid combination therapy for Alzheimer's disease. 61 54
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Retraction. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis. 54 61
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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
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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. 61 54
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Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity. 54 61
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Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 61 54
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Clusterin regulates transthyretin amyloidosis. 61 54
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Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. 61 54
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[Systemic amyloidoses in renal biopsy samples]. 61 54
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Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis. 61 54
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Current perspectives on familial Mediterranean fever. 54 61
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Outcome of renal transplant in hereditary gelsolin amyloidosis. 61 54
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Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene. 61 54
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Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models. 61 54
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[Cardiac amyloidosis--cardiovascular magnetic resonance imaging as a valuable diagnostic tool]. 54 61
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Neprilysin deficiency-dependent impairment of cognitive functions in a mouse model of amyloidosis. 61 54
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Biochemical characterisation of amyloid by endomyocardial biopsy. 61 54
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Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis. 61 54
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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
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Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. 61 54
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Enhanced transthyretin tetramer stability following expression of an amyloid disease transsuppressor variant in mammalian cells. 61 54
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Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease. 61 54
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[Familial transthyretin amyloidosis]. 61 54
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A molecular correlate of clinicopathology in transthyretin amyloidosis. 61 54
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Immunotargeting of apolipoprotein E in amyloid: an initial trial in mice. 54 61
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Trapping the monomer of a non-amyloidogenic variant of transthyretin: exploring its possible use as a therapeutic strategy against transthyretin amyloidogenic diseases. 61 54
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Prevention of amyloidosis in familial Mediterranean fever with colchicine: a case-control study in Armenia. 54 61
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Granular assembly of alpha-synuclein leading to the accelerated amyloid fibril formation with shear stress. 54 61
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Iodine atoms: a new molecular feature for the design of potent transthyretin fibrillogenesis inhibitors. 61 54
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Matrix metalloproteinases and their tissue inhibitors in cardiac amyloidosis: relationship to structural, functional myocardial changes and to light chain amyloid deposition. 61 54
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Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence for a proximal role in Alzheimer's disease. 54 61
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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
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Variations for Amyloidosis

ClinVar genetic disease variations for Amyloidosis:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPO NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu)SNV Conflicting interpretations of pathogenicity 192133 rs141443652 12:98927312-98927312 12:98533534-98533534
2 CACNA1C NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)SNV Conflicting interpretations of pathogenicity 568670 rs758143691 12:2774094-2774094 12:2664928-2664928
3 DSP NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)SNV Uncertain significance 44939 rs397516952 6:7584072-7584072 6:7583839-7583839
4 GSN NM_001127666.2(GSN):c.*97_*98insGGTGinsertion Uncertain significance 364831 rs886063408 9:124094977-124094978 9:121332699-121332700
5 GSN NM_001127666.2(GSN):c.*97_*98GT[11]short repeat Uncertain significance 364832 rs147410423 9:124094977-124094978 9:121332699-121332700
6 GSN NM_001127666.2(GSN):c.*116_*117insGinsertion Uncertain significance 364835 rs751044080 9:124094997-124094998 9:121332719-121332720
7 GSN NM_001127666.2(GSN):c.*120_*121insGinsertion Uncertain significance 364837 rs886063409 9:124095001-124095002 9:121332723-121332724
8 GSN NM_001127666.2(GSN):c.*124_*125insCinsertion Uncertain significance 364839 rs886063410 9:124095005-124095006 9:121332727-121332728
9 GSN NM_001127666.2(GSN):c.814G>A (p.Val272Ile)SNV Uncertain significance 364806 rs745588757 9:124079391-124079391 9:121317113-121317113
10 GSN NM_001127666.2(GSN):c.*136dupduplication Uncertain significance 364838 rs71680051 9:124095003-124095004 9:121332725-121332726
11 GSN NM_001127666.2(GSN):c.*97_*98GT[13]short repeat Uncertain significance 364834 rs147410423 9:124094977-124094978 9:121332699-121332700
12 GSN NM_001127666.2(GSN):c.1070G>A (p.Arg357Gln)SNV Uncertain significance 364807 rs372681751 9:124081004-124081004 9:121318726-121318726
13 GSN NM_001127666.2(GSN):c.1224+4C>TSNV Uncertain significance 364810 rs372713895 9:124081162-124081162 9:121318884-121318884
14 GSN NM_001127666.2(GSN):c.*116_*117insGTGinsertion Uncertain significance 364836 rs751044080 9:124094997-124094998 9:121332719-121332720
15 GSN NM_001127666.2(GSN):c.1131G>A (p.Val377=)SNV Likely benign 364808 rs201325199 9:124081065-124081065 9:121318787-121318787
16 GSN NM_001127666.2(GSN):c.1203C>T (p.Asp401=)SNV Likely benign 364809 rs147583697 9:124081137-124081137 9:121318859-121318859
17 GSN NM_001127666.2(GSN):c.1258G>A (p.Val420Met)SNV Likely benign 364811 rs140042418 9:124083579-124083579 9:121321301-121321301
18 AKAP9 NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His)SNV Benign/Likely benign 191531 rs141856443 7:91732083-91732083 7:92102769-92102769
19 GSN NM_001127666.2(GSN):c.*97_*98GT[12]short repeat Benign 364833 rs147410423 9:124094977-124094978 9:121332699-121332700

Expression for Amyloidosis

Search GEO for disease gene expression data for Amyloidosis.

Pathways for Amyloidosis

Pathways related to Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 TTR TNFRSF1A SERPINA3 SAA1 OSMR NLRP3
2
Show member pathways
13.37 TTR SAA1 LYZ IAPP GSN FGA
3
Show member pathways
13.32 TTR SAA1 NLRP3 LYZ IAPP GSN
4
Show member pathways
11.64 NLRP3 MEFV APP
5
Show member pathways
11.56 SAA1 APOE APOA1
6
Show member pathways
11.43 SERPINA3 SAA4 SAA2 SAA1 APOE APOA1
7 10.44 SAA1 APP

GO Terms for Amyloidosis

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.07 TTR SERPINA3 SAA4 SAA2 SAA1 LYZ
2 extracellular region GO:0005576 9.86 TTR TNFRSF1A SERPINA3 SAA4 SAA2 SAA1
3 receptor complex GO:0043235 9.81 TNFRSF1A OSMR IL31RA APP
4 endoplasmic reticulum lumen GO:0005788 9.8 FGA CST3 B2M APP APOE APOA1
5 blood microparticle GO:0072562 9.77 SERPINA3 GSN FGA APOE APOA1
6 secretory granule lumen GO:0034774 9.73 SERPINA3 GSN APOA1
7 azurophil granule lumen GO:0035578 9.7 TTR SERPINA3 LYZ
8 platelet alpha granule lumen GO:0031093 9.67 SERPINA3 FGA APP
9 tertiary granule lumen GO:1904724 9.65 LYZ CST3 B2M
10 endocytic vesicle lumen GO:0071682 9.58 SAA1 APOE APOA1
11 low-density lipoprotein particle GO:0034362 9.55 APOE APOA1
12 high-density lipoprotein particle GO:0034364 9.55 SAA4 SAA2 SAA1 APOE APOA1
13 chylomicron GO:0042627 9.54 APOE APOA1
14 extracellular space GO:0005615 9.5 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

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.01 TNFRSF1A NLRP3 IAPP GSN CST3 APP
2 inflammatory response GO:0006954 9.97 TNFRSF1A SERPINA3 NLRP3 MEFV LYZ
3 cytokine-mediated signaling pathway GO:0019221 9.96 TNFRSF1A SAA1 OSMR IL31RA
4 innate immune response GO:0045087 9.95 SAA1 NLRP3 MEFV FGA B2M APP
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.89 GPNMB FGA APP APOE
6 post-translational protein modification GO:0043687 9.89 FGA CST3 APP APOE APOA1
7 neutrophil degranulation GO:0043312 9.85 TTR SERPINA3 LYZ GSN CST3 B2M
8 cholesterol metabolic process GO:0008203 9.83 APP APOE APOA1
9 cell chemotaxis GO:0060326 9.81 SAA4 SAA2 SAA1
10 defense response GO:0006952 9.81 TNFRSF1A NLRP3 IL31RA CST3
11 retinoid metabolic process GO:0001523 9.76 TTR APOE APOA1
12 platelet degranulation GO:0002576 9.71 SERPINA3 FGA APP APOA1
13 reverse cholesterol transport GO:0043691 9.67 APOE APOA1
14 high-density lipoprotein particle remodeling GO:0034375 9.66 APOE APOA1
15 positive regulation of lipid biosynthetic process GO:0046889 9.66 APOE APOA1
16 negative regulation of long-term synaptic potentiation GO:1900272 9.65 APP APOE
17 high-density lipoprotein particle assembly GO:0034380 9.64 APOE APOA1
18 phospholipid efflux GO:0033700 9.63 APOE APOA1
19 high-density lipoprotein particle clearance GO:0034384 9.63 APOE APOA1
20 chylomicron assembly GO:0034378 9.62 APOE APOA1
21 modulation of age-related behavioral decline GO:0090647 9.62 B2M APP
22 very-low-density lipoprotein particle remodeling GO:0034372 9.61 APOE APOA1
23 chylomicron remodeling GO:0034371 9.61 APOE APOA1
24 positive regulation of cholesterol esterification GO:0010873 9.6 APOE APOA1
25 regulation of Cdc42 protein signal transduction GO:0032489 9.58 APOE APOA1
26 lipoprotein biosynthetic process GO:0042158 9.56 APOE APOA1
27 positive chemotaxis GO:0050918 9.56 SAA4 SAA2 SAA1 GPNMB
28 regulation of tissue remodeling GO:0034103 9.55 GPNMB CST3
29 negative regulation of amyloid fibril formation GO:1905907 9.52 IAPP APOE
30 amyloid fibril formation GO:1990000 9.5 GSN B2M APP
31 positive regulation of amyloid fibril formation GO:1905908 9.46 APP APOE
32 acute-phase response GO:0006953 9.46 SERPINA3 SAA4 SAA2 SAA1
33 positive regulation of phospholipid efflux GO:1902995 9.43 APOE APOA1
34 negative regulation of inflammatory response GO:0050728 9.43 TNFRSF1A SAA1 NLRP3 MEFV APOE APOA1
35 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 9.77 IAPP FGA APP APOE APOA1
2 heparin binding GO:0008201 9.56 SAA1 GPNMB APP APOE
3 amyloid-beta binding GO:0001540 9.46 IAPP CST3 APOE APOA1
4 lipoprotein particle binding GO:0071813 9.4 APOE APOA1
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOE APOA1
6 identical protein binding GO:0042802 9.32 TTR NLRP3 MEFV LYZ IAPP CST3
7 chemoattractant activity GO:0042056 9.26 SAA4 SAA2 SAA1 GPNMB

Sources for Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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