MCID: AMY004
MIFTS: 69

Amyloidosis

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

Aliases & Classifications for Amyloidosis

Summaries for Amyloidosis

MedlinePlus : 40 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, and has symptoms including inguinal hernia, ureteral stenosis and renal insufficiency. 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 Dopamine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are homeostasis/metabolism and hematopoietic system

Disease Ontology : 12 An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.

Wikipedia : 72 Amyloidosis is a group of diseases in which abnormal protein, known as amyloid fibrils, builds 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 592)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 34.6 APOA1 GSN TTR
2 al amyloidosis 34.6 LYZ TTR
3 amyloidosis, finnish type 34.2 APOE GSN TTR
4 macular amyloidosis 33.7 IL31RA OSMR
5 hereditary amyloidosis 33.7 APOA1 B2M FGA GSN LYZ TTR
6 lichen amyloidosis 33.7 IL31RA OSMR
7 muckle-wells syndrome 33.4 MEFV NLRP3 TNFRSF1A
8 amyloidosis aa 33.0 APOA1 B2M MEFV SAA1 SAA2 SAA4
9 periodic fever, familial, autosomal dominant 32.4 LYZ MEFV NLRP3 TNFRSF1A
10 cerebral amyloid angiopathy, cst3-related 32.2 APOE APP BACE1 CST3 TTR
11 corneal dystrophy, lattice type i 31.9 GSN TGFBI
12 familial cold autoinflammatory syndrome 1 31.9 MEFV NLRP3 TNFRSF1A
13 familial mediterranean fever 31.7 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
14 amyloidosis, familial visceral 31.5 APOA1 B2M FGA GSN IAPP LYZ
15 hyper-igd syndrome 31.2 SAA1 TNFRSF1A
16 cerebral hemorrhage 30.9 APP CST3
17 polyneuropathy 30.7 APOA1 GSN TTR
18 amyloid neuropathy 30.0 APOA1 GSN TTR
19 wells syndrome 29.9 MEFV NLRP3 TNFRSF1A
20 cryopyrin-associated periodic syndrome 29.8 NLRP3 SAA4
21 senile plaque formation 29.6 APOE APP
22 chronic kidney failure 29.1 B2M CST3 TTR
23 alzheimer disease 28.8 APOE APP BACE1 CST3 TNFRSF1A TTR
24 inclusion body myositis 28.5 APOE APP BACE1 GSN
25 primary cutaneous amyloidosis 12.5
26 amyloidosis, primary localized cutaneous, 1 12.4
27 familial amyloidosis, finnish type 12.2
28 amyloidosis, primary localized cutaneous, 2 12.2
29 wild type attr amyloidosis 12.1
30 wild type abeta2m amyloidosis 12.1
31 aapoaii amyloidosis 12.1
32 aapoai amyloidosis 12.1
33 cerebral amyloid angiopathy, app-related 12.1
34 afib amyloidosis 12.1
35 primary localized amyloidosis 12.1
36 myeloma, multiple 12.0
37 ah amyloidosis 12.0
38 alect2 amyloidosis 12.0
39 amyloidosis beta2m 12.0
40 nodular cutaneous amyloidosis 11.9
41 variant abeta2m amyloidosis 11.9
42 aapoaiv amyloidosis 11.9
43 amyloidosis cutis dyschromia 11.9
44 corneal dystrophy, gelatinous drop-like 11.9
45 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.8
46 amyloidosis nodular localized cutaneous 11.8
47 amyloidosis of gingiva and conjunctiva with intellectual disability 11.8
48 prp systemic amyloidosis 11.8
49 amyloidosis of gingiva and conjunctiva, with mental retardation 11.7
50 amyloidosis, cutaneous bullous 11.7

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


Acute Cystitis Chronic Kidney Failure
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:

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

MGI Mouse Phenotypes related to Amyloidosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 APP B2M BACE1 CST3 FGA GSN
2 hematopoietic system MP:0005397 10.25 APP B2M FGA GSN IAPP IL31RA
3 cellular MP:0005384 10.22 APOA1 APOE APP B2M BACE1 GSN
4 immune system MP:0005387 10.18 APOE APP B2M FGA GSN IAPP
5 endocrine/exocrine gland MP:0005379 10.11 GSN LYZ OSMR TGFBI TNFRSF1A APOA1
6 integument MP:0010771 10.1 APOA1 APOE APP B2M BACE1 FGA
7 liver/biliary system MP:0005370 9.91 FGA LYZ MEFV NLRP3 OSMR TNFRSF1A
8 no phenotypic analysis MP:0003012 9.7 APOE APP BACE1 LYZ OSMR TNFRSF1A
9 reproductive system MP:0005389 9.61 APOE APP B2M CST3 FGA GSN
10 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 514)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 7440-66-6 32051 23994
3
Donepezil Approved Phase 4,Phase 2,Phase 3 120014-06-4 3152
4
Pramlintide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 151126-32-8
5
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2 141758-74-9 15991534
6
Pravastatin Approved Phase 4 81093-37-0 54687
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Simvastatin Approved Phase 4,Phase 2 79902-63-9 54454
9
Ibuprofen Approved Phase 4 15687-27-1 3672
10
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
11
Ramipril Approved Phase 4 87333-19-5 5362129
12
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
13
Amlodipine Approved Phase 4,Phase 2 88150-42-9 2162
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15
Galantamine Approved Phase 4 357-70-0 9651
16
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
17
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
18
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
19
Clozapine Approved Phase 4 5786-21-0 2818
20
Angiotensin II Approved, Investigational Phase 4,Phase 2,Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
21
Insulin Lispro Approved Phase 4,Phase 2,Phase 1 133107-64-9
22
Insulin Glargine Approved Phase 4 160337-95-1
23
Insulin Aspart Approved Phase 4,Phase 2,Phase 1 116094-23-6 16132418
24
Insulin Detemir Approved Phase 4 169148-63-4 5311023
25
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
26
Prazosin Approved Phase 4 19216-56-9 4893
27
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
28 Racepinephrine Approved Phase 4 329-65-7
29
Citalopram Approved Phase 4 59729-33-8 2771
30
Iodine Approved, Investigational Phase 4 7553-56-2 807
31
Huperzine A Approved, Investigational Phase 4 102518-79-6
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
33
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
34
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
35
Corticosterone Experimental Phase 4,Phase 2,Phase 1,Early Phase 1 50-22-6 5753
36 insulin Phase 4,Phase 3,Phase 2,Phase 1
37 Lithium carbonate Phase 4,Phase 2 554-13-2
38 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
39
protease inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
40 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Adrenergic Agents Phase 4,Phase 2
42 Adrenergic beta-Antagonists Phase 4,Phase 2
43 Cholinergic Agents Phase 4,Phase 3,Phase 2
44 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
45 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
46 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Early Phase 1
49 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
50 HIV Protease Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 836)

# Name Status NCT ID Phase Drugs
1 The Effect of Short-Term Statins and NSAIDs on Levels of Beta-Amyloid, a Protein Associated With Alzheimer's Disease Completed NCT00046358 Phase 4 Lovostatin;Ibuprofen
2 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
3 Impact of FBB PET Amyloid Imaging in Change of Diagnosis in Patients With AD Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
4 Studying the Effects of Antihypertensives on Individuals at Risk for Alzheimer's Completed NCT00980785 Phase 4 Ramipril;Placebo
5 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
6 Anti-Inflammatory Actions of Valsartan in Patients With Type 2 Diabetes Mellitus Completed NCT00982358 Phase 4 Valsartan
7 Do HMG CoA Reductase Inhibitors Affect Abeta Levels? Completed NCT00303277 Phase 4 simvastatin;pravastatin
8 Myocardial Protection of Exenatide in AMI Completed NCT01580514 Phase 4 exenatide BYETTA® (Amylin-Lilly);Saline
9 Continuous Subcutaneous Infusion of Pramlintide and Insulin Completed NCT00291772 Phase 4 Pramlintide
10 A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes Completed NCT00502138 Phase 4 Continuous Pramlintide infusion
11 Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus Completed NCT00442767 Phase 4 Pramlintide acetate
12 Insulin Resistance and Central Nervous System (CNS) Function in Type 2 Diabetes Completed NCT00212290 Phase 4 pioglitazone;nateglinide;placebo
13 The Effect of Byetta and Symlin on Post-meal Meal Blood Sugar Levels in Children With Type 2 Diabetes Completed NCT00950677 Phase 4 Byetta (exenatide);Symlin (pramlintide)
14 Demonstrate the Effects of Pramlintide on Weight Reduction in Schizophrenia Completed NCT00690235 Phase 4 Pramlintide;Placebo
15 A Study Evaluating the Efficacy and Safety of Adding Symlin® to Lantus® (Insulin Glargine) in Subjects With Type 2 Diabetes Completed NCT00240253 Phase 4 pramlintide acetate
16 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
17 Double Blind Atorvastatin Amlodipine Study Completed NCT00159718 Phase 4 amlodipine;atorvastatin
18 Study to Determine the Digestive and Physiological Effects of an Extract From Bran in Healthy Men and Women Completed NCT01073969 Phase 4
19 Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia Completed NCT01269047 Phase 4 Pramlintide;Exenatide;Insulin
20 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Recruiting NCT03040427 Phase 4 F-18 florbetapir
21 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
22 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
23 Prazosin and CSF Biomarkers in mTBI Recruiting NCT03221751 Phase 4 prazosin hydrochloride;placebo
24 Trial of Simvastatin in Amnestic Mild Cognitive Impairment (MCI) Patients Recruiting NCT00842920 Phase 4 Simvastatin;Placebo
25 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
26 Lithium As a Treatment to Prevent Impairment of Cognition in Elders Recruiting NCT03185208 Phase 4 Lithium Carbonate;Placebo oral capsule
27 Escitalopram Effects on CSF Amyloid Beta Active, not recruiting NCT02161458 Phase 4 Escitalopram 20mg for 2 weeks;Escitalopram 20mg for 8 weeks;Escitalopram 30mg for 8 weeks;Placebo
28 Pramlintide (Symlin) for the Treatment of Hypoglycemia Following Gastric Bypass Surgery Active, not recruiting NCT01841359 Phase 4 Pramlintide
29 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
30 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
31 Cardiac Uptake of 18F Florbetapir in Patients Undergoing Chemotherapy Not yet recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
32 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Not yet recruiting NCT02931136 Phase 4 Huperzine A;Placebo
33 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
34 Nicotinic Acid Composition of HDL and Arterial Endothelium Function in Premature Coronary Heart Disease and High HDL Terminated NCT01450410 Phase 4 Nicotinic acid;Placebo
35 Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes Withdrawn NCT00505882 Phase 4 Pramlintide;Glargine;Lispro;Aspart
36 Efficacy Study of High Dose Symlin to Treat Type 2 Diabetes Mellitus Unknown status NCT01137695 Phase 3 Pramlintide;Pramlintide;Pramlintide;Pramlintide
37 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
38 Exenatide (Byetta) Versus Pramlintide (Symlin): Role in Post-Prandial Hyperglycemia Unknown status NCT00923715 Phase 3 Insulin;Insulin and Exenatide;Insulin and Pramlintide
39 Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis Completed NCT01998503 Phase 3 Bortezomib;dexamethasone;Melphalan
40 A Trial for Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3 BMDex
41 Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
42 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3 melphalan;dexamethasone;bortezomib
43 Intensive Versus Conventional Treatment in Patients With Primary Amyloidosis Completed NCT00344526 Phase 3 Melphalan;Dexamethasone
44 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
45 Low-Dose Melphalan and Dexamethasone Compared With High-Dose Melphalan Followed By Autologous Stem Cell Transplant in Treating Patients With Primary Systemic Amyloidosis Completed NCT00477971 Phase 3 dexamethasone;melphalan
46 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
47 Phase III Study of the Correlation Between Florbetapir F18 PET Imaging and Amyloid Pathology in the Brain Completed NCT00857415 Phase 3 florbetapir F 18
48 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
49 Positron Emission Tomography (PET) Amyloid Imaging of the Brain in Healthy Young Adult Subjects Completed NCT01265394 Phase 3 [18F] Flutemetamol
50 PET Imaging of Brain Amyloid in Normal Pressure Hydrocephalus Completed NCT01053312 Phase 3 [18F] Flutemetamol

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: amyloidosis

Genetic Tests for Amyloidosis

Anatomical Context for Amyloidosis

MalaCards organs/tissues related to Amyloidosis:

38
Brain, Heart, Bone, Liver, Bone Marrow, Kidney, Breast

Publications for Amyloidosis

Articles related to Amyloidosis:

(show top 50) (show all 3034)
# Title Authors Year
1
Elevation of Plasmin-I+2-plasmin Inhibitor Complexes in Patients with AL Amyloidosis. ( 29321425 )
2018
2
Venetoclax induced a complete response in a patient with AL amyloidosis plateaued on CyBorD. ( 29351984 )
2018
3
Oligosecretory Myeloma With Amyloidosis and Alopecia. ( 29399587 )
2018
4
Lung uptake during 99mTc-hydroxymethylene diphosphonate scintigraphy in patient with TTR cardiac amyloidosis: An underestimated phenomenon. ( 29407121 )
2018
5
Primary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism. ( 29446975 )
2018
6
Atraumatic Splenic Rupture Due to Ectopic Extramedullary Hematopoiesis after Autologous Stem Cell Transplantation in a Patient with AL Amyloidosis. ( 29093392 )
2018
7
Lichen amyloidosis successfully treated with fractional ablative laser CO<sub>2</sub>: A new alternative therapeutic. ( 29400590 )
2018
8
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
9
Serum Transthyretin: Predictor of Amyloidosis Outcomes? ( 29449369 )
2018
10
Extracardiac imaging in amyloidosis: A long and winding (but possible) road. ( 29407122 )
2018
11
Chronic and severe prosthetic joint infection complicated by amyloid A amyloidosis with renal and bladder impairment. ( 29437745 )
2018
12
Presentation and outcome with second-line treatment in AL amyloidosis previously sensitive to nontransplant therapies. ( 29101236 )
2018
13
Duodenal amyloidosis secondary to ulcerative colitis. ( 29422811 )
2018
14
The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese. ( 29420094 )
2018
15
Rare Undiagnosed Primary Amyloidosis Unmasked During Surgical Treatment of Primary Hyperparathyroidism: A Case Report. ( 29359203 )
2018
16
Growth Differentiation Factor 15 Is a New Biomarker for Survival and Renal Outcomes in Light Chain (AL) Amyloidosis. ( 29386197 )
2018
17
Predictive value of the new renal response criteria in AL amyloidosis treated with high dose melphalan and stem cell transplantation. ( 29430701 )
2018
18
Localised nasopharyngeal amyloidosis: the importance of postoperative follow-up. ( 29444790 )
2018
19
A case of cardiac sarcoidosis mimicking cardiac amyloidosis on cardiovascular magnetic resonance. ( 29405655 )
2018
20
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis. ( 29401357 )
2018
21
Cardiac amyloidosis: from clinical suspicion to morphological diagnosis. ( 29448998 )
2018
22
Acquired factor V deficiency in a patient with myeloma and amyloidosis. ( 29427868 )
2018
23
AL amyloidosis, hypothyroidism and reduced tissue availability of thyroid hormones by thyroid hormone-binding immunoglobulin: a new possible perspective. ( 28805259 )
2017
24
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
25
Long-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP). ( 28434340 )
2017
26
Acquired von Willebrand Syndrome Associated to Secondary IgM MGUS Emerging after Autologous Stem Cell Transplantation for AL Amyloidosis. ( 28512563 )
2017
27
Apical to Base Gradient of Technetium-99m Pyrophosphate Myocardial Counts in Cardiac Amyloidosis: An Insight Into the Mechanism of Myocardial Strain Gradient, or Merely "Clouds That Mimic Land Before the Sailor's Eye?" ( 28917690 )
2017
28
Clinical presentation and outcomes in light chain amyloidosis patients with non-evaluable serum free light chains. ( 28919633 )
2017
29
Recurrent diffuse gastric bleeding as a leading symptom ofA gastrointestinal AL amyloidosis. ( 29212103 )
2017
30
Lactate dehydrogenase as a prognostic marker in AL amyloidosis: expected or unexpected? ( 28737209 )
2017
31
Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype. ( 28049649 )
2017
32
A negative LGE is inconclusive to exclude an early cardiac amyloidosis: it's the time for a T1 mapping in clinical practice. ( 28916083 )
2017
33
Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? ( 28906148 )
2017
34
Clinical improvement of renal amyloidosis in a patient with systemic-onset juvenile idiopathic arthritis who received tocilizumab treatment: a case report and literature review. ( 28499374 )
2017
35
Analysis of deposited peptides in amyloid lesions of AL amyloidosis by mass spectrometry. ( 28679987 )
2017
36
Marked biochemical difference in amyloid proportion between intra- and extraocular tissues in a liver-transplanted patient with hereditary ATTR amyloidosis. ( 28081655 )
2017
37
Regional Variation in Technetium Pyrophosphate Uptake in Transthyretin Cardiac Amyloidosis and Impact onA Mortality. ( 28917675 )
2017
38
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
39
Middle lobe syndrome: an intriguing presentation of tracheobronchial amyloidosis. ( 28536221 )
2017
40
Neuralgic amyotrophy following high-dose melphalan and autologous peripheral blood stem cell transplantation for AL amyloidosis. ( 29269794 )
2017
41
Massive Upper and Lower GI Bleed from Simultaneous Primary (AL) Amyloidosis of the Stomach and Transverse Colon in a Patient with Multiple Myeloma. ( 29282382 )
2017
42
Hematologic relapse in AL amyloidosis after high-dose melphalan and stem cell transplantation. ( 28698204 )
2017
43
Vitreous Amyloidosis: Ocular, Systemic, and Genetic Insights. ( 28412068 )
2017
44
Predictors of Prognosis in Light-Chain Amyloidosis and Chronological Changes in Cardiac Morphology and Function. ( 28947306 )
2017
45
Association of amyloidosis cutis dyschromica and familial Mediterranean fever. ( 29267436 )
2017
46
High-Dose Melphalan and Stem Cell Transplantation in Patients on Dialysis Due to Immunoglobulin Light-Chain Amyloidosis and Monoclonal Immunoglobulin Deposition Disease. ( 28865972 )
2017
47
Alitretinoin treatment of lichen amyloidosis. ( 28906049 )
2017
48
Light Chain (AL) Amyloidosis: The Journey to Diagnosis. ( 28808991 )
2017
49
Novel pathologic scoring tools predict end-stage kidney disease in light chain (AL) amyloidosis. ( 28758811 )
2017
50
Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report. ( 28802308 )
2017

Variations for Amyloidosis

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
13.73 APP B2M CST3 FGA GSN IL31RA
2
Show member pathways
13.15 APOA1 APP B2M BACE1 CST3 FGA
3
Show member pathways
12.86 APOA1 APP B2M BACE1 CST3 FGA
4
Show member pathways
11.89 APOA1 APOE SAA1 SAA2 SAA4
5
Show member pathways
11.71 APP MEFV NLRP3
6
Show member pathways
11.65 APOA1 APOE SAA1
7 11.32 APP BACE1 TNFRSF1A
8 11.2 APOE APP BACE1
9 10.79 APP BACE1 CST3
10 10.55 APP SAA1

GO Terms for Amyloidosis

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.91 APOA1 APP B2M BACE1 FGA TNFRSF1A
2 axon GO:0030424 9.85 APP BACE1 CST3 IL31RA
3 extracellular region GO:0005576 9.83 APOA1 APOE APP B2M CST3 FGA
4 blood microparticle GO:0072562 9.81 APOA1 APOE FGA GSN
5 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOE APP B2M BACE1 CST3
6 tertiary granule lumen GO:1904724 9.67 B2M CST3 LYZ
7 extracellular vesicle GO:1903561 9.65 APOA1 APOE FGA
8 high-density lipoprotein particle GO:0034364 9.55 APOA1 APOE SAA1 SAA2 SAA4
9 low-density lipoprotein particle GO:0034362 9.54 APOA1 APOE
10 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOE SAA1
11 chylomicron GO:0042627 9.52 APOA1 APOE
12 extracellular space GO:0005615 9.5 APOA1 APOE APP B2M CST3 FGA
13 intermediate-density lipoprotein particle GO:0034363 9.46 APOA1 APOE
14 discoidal high-density lipoprotein particle GO:0034365 9.4 APOA1 APOE
15 extracellular exosome GO:0070062 10.13 APOA1 APOE APP B2M CST3 FGA

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.97 APP CST3 GSN IAPP NLRP3 TNFRSF1A
2 extracellular matrix organization GO:0030198 9.85 APP FGA TGFBI TTR
3 post-translational protein modification GO:0043687 9.83 APOA1 APOE APP CST3 FGA
4 cholesterol metabolic process GO:0008203 9.79 APOA1 APOE APP
5 defense response GO:0006952 9.71 CST3 IL31RA NLRP3 TNFRSF1A
6 retinoid metabolic process GO:0001523 9.69 APOA1 APOE TTR
7 reverse cholesterol transport GO:0043691 9.64 APOA1 APOE
8 high-density lipoprotein particle remodeling GO:0034375 9.63 APOA1 APOE
9 high-density lipoprotein particle assembly GO:0034380 9.63 APOA1 APOE
10 innate immune response GO:0045087 9.63 APP B2M FGA MEFV NLRP3 SAA1
11 negative regulation of interleukin-1 beta secretion GO:0050713 9.62 APOA1 NLRP3
12 phospholipid efflux GO:0033700 9.61 APOA1 APOE
13 chylomicron assembly GO:0034378 9.59 APOA1 APOE
14 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOE
15 chylomicron remodeling GO:0034371 9.58 APOA1 APOE
16 amyloid fibril formation GO:1990000 9.57 APP GSN
17 high-density lipoprotein particle clearance GO:0034384 9.56 APOA1 APOE
18 negative regulation of long-term synaptic potentiation GO:1900272 9.54 APOE APP
19 neuron projection regeneration GO:0031102 9.52 APOA1 APOE
20 positive chemotaxis GO:0050918 9.5 SAA1 SAA2 SAA4
21 regulation of Cdc42 protein signal transduction GO:0032489 9.48 APOA1 APOE
22 lipoprotein biosynthetic process GO:0042158 9.46 APOA1 APOE
23 cellular protein metabolic process GO:0044267 9.44 APOA1 APOE APP B2M BACE1 CST3
24 acute-phase response GO:0006953 9.43 SAA1 SAA2 SAA4
25 negative regulation of inflammatory response GO:0050728 9.43 APOA1 APOE MEFV NLRP3 SAA1 TNFRSF1A
26 positive regulation of amyloid fibril formation GO:1905908 9.37 APOE APP
27 immune system process GO:0002376 10.01 B2M FGA IL31RA MEFV NLRP3
28 neutrophil degranulation GO:0043312 10 B2M CST3 GSN LYZ TTR

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 APOA1 APOE APP B2M CST3 IAPP
2 cholesterol transporter activity GO:0017127 9.37 APOA1 APOE
3 chemoattractant activity GO:0042056 9.33 SAA1 SAA2 SAA4
4 lipoprotein particle binding GO:0071813 9.32 APOA1 APOE
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOE
6 amyloid-beta binding GO:0001540 9.02 APOA1 APOE BACE1 CST3 IAPP

Sources for Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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