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MCID: AMY004
MIFTS: 69

Amyloidosis

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

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MalaCards integrated aliases for Amyloidosis:

Name: Amyloidosis 12 56 6 44 45 15 17 74
Amyloid Disease 12

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Immune diseases Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Amyloidosis

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MedlinePlus : 44 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 Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs Simvastatin and Pramlintide have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related phenotypes are facial palsy and corneal dystrophy

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 : 77 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:

Amyloidosis, Hereditary, Transthyretin-Related 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 798)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 34.7 APOA1 GSN TTR
2 al amyloidosis 34.3 B2M CST3 LYZ TTR
3 amyloidosis, finnish type 34.2 APOE GSN TTR
4 hereditary amyloidosis 33.9 APOA1 B2M FGA GSN LYZ TTR
5 cerebral amyloid angiopathy, app-related 33.7 APP CST3
6 lichen amyloidosis 33.6 GPNMB IL31RA OSMR
7 macular amyloidosis 33.6 GPNMB IL31RA OSMR
8 muckle-wells syndrome 33.5 MEFV NLRP3 TNFRSF1A
9 amyloidosis aa 33.2 APOA1 B2M MEFV SAA1 SAA2 SAA4
10 cerebral amyloid angiopathy, cst3-related 32.6 APOE APP CST3 GSN SERPINA3 TTR
11 periodic fever, familial, autosomal dominant 32.4 LYZ MEFV NLRP3 TNFRSF1A
12 hereditary cerebral amyloid angiopathy 32.4 APP CST3
13 familial cold autoinflammatory syndrome 1 31.9 MEFV NLRP3 TNFRSF1A
14 familial mediterranean fever 31.8 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
15 amyloidosis, familial visceral 31.8 APOA1 B2M FGA GSN IAPP LYZ
16 hyper-igd syndrome 31.2 SAA1 TNFRSF1A
17 polyneuropathy 31.0 APOA1 GSN TTR
18 cerebral hemorrhage 31.0 APP CST3
19 wells syndrome 29.9 MEFV NLRP3 TNFRSF1A
20 cryopyrin-associated periodic syndrome 29.8 NLRP3 SAA4
21 alzheimer disease 29.6 APOE APP CST3 SERPINA3 TNFRSF1A TTR
22 senile plaque formation 29.5 APOE APP
23 vascular disease 29.2 APOA1 APOE CST3 FGA
24 primary cutaneous amyloidosis 12.6
25 amyloidosis, primary localized cutaneous, 1 12.6
26 amyloidosis, primary localized cutaneous, 3 12.6
27 amyloidosis, primary localized cutaneous, 2 12.4
28 familial amyloidosis, finnish type 12.4
29 wild type attr amyloidosis 12.3
30 aapoai amyloidosis 12.3
31 aapoaii amyloidosis 12.3
32 afib amyloidosis 12.3
33 wild type abeta2m amyloidosis 12.3
34 primary localized amyloidosis 12.2
35 myeloma, multiple 12.2
36 ah amyloidosis 12.2
37 alect2 amyloidosis 12.2
38 amyloidosis beta2m 12.2
39 hereditary transthyretin amyloidosis 12.2
40 nodular cutaneous amyloidosis 12.1
41 variant abeta2m amyloidosis 12.1
42 aapoaiv amyloidosis 12.1
43 amyloidosis nodular localized cutaneous 12.1
44 corneal dystrophy, gelatinous drop-like 12.1
45 pigmentary disorder, reticulate, with systemic manifestations, x-linked 12.0
46 amyloidosis of gingiva and conjunctiva with intellectual disability 12.0
47 prp systemic amyloidosis 12.0
48 amyloidosis of gingiva and conjunctiva, with mental retardation 11.9
49 amyloidosis, cutaneous bullous 11.9
50 amyloidosis bronchopulmonary 11.9

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
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Symptoms & Phenotypes for Amyloidosis

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Human phenotypes related to Amyloidosis:

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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 APOA1 APOE APP B2M CST3 FGA

MGI Mouse Phenotypes related to Amyloidosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 APOA1 APOE APP B2M CST3 FGA
2 hematopoietic system MP:0005397 10.25 APOE APP B2M FGA GPNMB GSN
3 cardiovascular system MP:0005385 10.18 APOA1 APOE APP B2M CST3 FGA
4 immune system MP:0005387 10.18 APOE APP B2M FGA GPNMB GSN
5 integument MP:0010771 10.06 APOA1 APOE APP B2M FGA GSN
6 digestive/alimentary MP:0005381 10 APOE B2M FGA LYZ NLRP3 TNFRSF1A
7 liver/biliary system MP:0005370 9.91 APOA1 APOE B2M FGA LYZ MEFV
8 nervous system MP:0003631 9.85 APOE APP B2M CST3 FGA GPNMB
9 reproductive system MP:0005389 9.65 APOE APP B2M CST3 FGA GSN
10 skeleton MP:0005390 9.28 APOE FGA GSN IAPP IL31RA LYZ
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 567)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 2 79902-63-9 54454
2
Pramlintide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 151126-32-8
3
Huperzine A Approved, Experimental Phase 4 102518-79-6
4
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
5
Lithium carbonate Approved Phase 4,Phase 2 554-13-2
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
8
Ramipril Approved Phase 4 87333-19-5 5362129
9
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
10
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
11
Pravastatin Approved Phase 4 81093-37-0 54687
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Exenatide Approved, Investigational Phase 4,Phase 2 141758-74-9 15991534
14
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 1 302-25-0
15
Prednisolone Approved, Vet_approved Phase 4,Phase 1 50-24-8 5755
16
Methylprednisolone hemisuccinate Approved Phase 4,Phase 1 2921-57-5
17
Methylprednisolone Approved, Vet_approved Phase 4,Phase 1 83-43-2 6741
18
Infliximab Approved Phase 4 170277-31-3
19
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
20
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
21
Glucagon Approved Phase 4,Phase 2,Not Applicable 16941-32-5
22
Clozapine Approved Phase 4 5786-21-0 2818
23
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
24
Insulin glargine Approved Phase 4 160337-95-1
25
Donepezil Approved Phase 4,Phase 2,Phase 3 120014-06-4 3152
26
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
27
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
28
Galantamine Approved Phase 4 357-70-0 9651
29
Dopamine Approved Phase 4,Phase 1,Phase 2,Not Applicable 62-31-7, 51-61-6 681
30
Amlodipine Approved Phase 4,Phase 2 88150-42-9 2162
31
Insulin Aspart Approved Phase 4,Phase 2,Phase 1 116094-23-6 16132418
32
Insulin Detemir Approved Phase 4 169148-63-4 5311023
33
Insulin Lispro Approved Phase 4,Phase 2,Phase 1,Not Applicable 133107-64-9
34
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7440-66-6 32051
35
Prazosin Approved Phase 4 19216-56-9 4893
36
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
37
Racepinephrine Approved Phase 4 329-65-7 838
38
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
39
alemtuzumab Approved, Investigational Phase 4 216503-57-0
40
Citalopram Approved Phase 4 59729-33-8 2771
41
Iodine Approved, Investigational Phase 4 7553-56-2 807
42
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
43
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7440-70-2 271
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
45
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
46
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
47
Prednisolone hemisuccinate Experimental Phase 4,Phase 1 2920-86-7
48
Corticosterone Experimental Phase 4,Phase 2,Phase 1,Early Phase 1 50-22-6 5753
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
50 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 1018)
# Name Status NCT ID Phase Drugs
1 Trial of Simvastatin in Amnestic Mild Cognitive Impairment (MCI) Patients Unknown status NCT00842920 Phase 4 Simvastatin;Placebo
2 Pramlintide (Symlin) for the Treatment of Hypoglycemia Following Gastric Bypass Surgery Unknown status NCT01841359 Phase 4 Pramlintide
3 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Unknown status NCT02931136 Phase 4 Huperzine A;Placebo
4 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
5 Impact of FBB PET Amyloid Imaging in Change of Diagnosis in Patients With AD Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
6 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
7 Studying the Effects of Antihypertensives on Individuals at Risk for Alzheimer's Completed NCT00980785 Phase 4 Ramipril;Placebo
8 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
9 Anti-Inflammatory Actions of Valsartan in Patients With Type 2 Diabetes Mellitus Completed NCT00982358 Phase 4 Valsartan
10 Do HMG CoA Reductase Inhibitors Affect Abeta Levels? Completed NCT00303277 Phase 4 simvastatin;pravastatin
11 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4 colchicine
12 Myocardial Protection of Exenatide in AMI Completed NCT01580514 Phase 4 exenatide BYETTA® (Amylin-Lilly);Saline
13 Continuous Subcutaneous Infusion of Pramlintide and Insulin Completed NCT00291772 Phase 4 Pramlintide
14 A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes Completed NCT00502138 Phase 4 Continuous Pramlintide infusion
15 Treatment Of Knee Osteoarthritis With Intra-Articular Infliximab Completed NCT01144143 Phase 4 Infliximab;Placebo;Standard of Care: Methylprednisolone acetate
16 Insulin Resistance and Central Nervous System (CNS) Function in Type 2 Diabetes Completed NCT00212290 Phase 4 pioglitazone;nateglinide;placebo
17 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)
18 Demonstrate the Effects of Pramlintide on Weight Reduction in Schizophrenia Completed NCT00690235 Phase 4 Pramlintide;Placebo
19 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
20 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
21 Double Blind Atorvastatin Amlodipine Study Completed NCT00159718 Phase 4 amlodipine;atorvastatin
22 Study to Determine the Digestive and Physiological Effects of an Extract From Bran in Healthy Men and Women Completed NCT01073969 Phase 4
23 Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia Completed NCT01269047 Phase 4 Pramlintide;Exenatide;Insulin
24 Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus Completed NCT00442767 Phase 4 Insulin;Pramlintide + Insulin
25 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Recruiting NCT03040427 Phase 4 F-18 florbetapir
26 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
27 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
28 Prazosin and CSF Biomarkers in mTBI Recruiting NCT03221751 Phase 4 prazosin hydrochloride;placebo
29 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
30 Lithium As a Treatment to Prevent Impairment of Cognition in Elders Recruiting NCT03185208 Phase 4 Lithium Carbonate;Placebo oral capsule
31 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
32 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
33 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)
34 Longitudinal Imaging Biomarkers of Disease Progression in DLB Enrolling by invitation NCT03582488 Phase 4 18F-Flortaucipir
35 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
36 The Kronos Early Estrogen Prevention Study (KEEPS) Enrolling by invitation NCT03718494 Phase 4
37 Cardiac Uptake of 18F Florbetapir in Patients Undergoing Chemotherapy Not yet recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
38 Sex-Specific Effects of Endocrine Disruption on Aging and Alzheimer's Disease Not yet recruiting NCT03821857 Phase 4
39 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
40 Nicotinic Acid Composition of HDL and Arterial Endothelium Function in Premature Coronary Heart Disease and High HDL Terminated NCT01450410 Phase 4 Nicotinic acid;Placebo
41 Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes Withdrawn NCT00505882 Phase 4 Pramlintide;Glargine;Lispro;Aspart
42 Efficacy Study of High Dose Symlin to Treat Type 2 Diabetes Mellitus Unknown status NCT01137695 Phase 3 Pramlintide;Pramlintide;Pramlintide;Pramlintide
43 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
44 Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis Completed NCT01998503 Phase 3 Bortezomib;dexamethasone;Melphalan
45 A Trial for Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3 BMDex
46 Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
47 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3 melphalan;dexamethasone;bortezomib
48 Intensive Versus Conventional Treatment in Patients With Primary Amyloidosis Completed NCT00344526 Phase 3 Melphalan;Dexamethasone
49 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
50 Phase III Study of the Correlation Between Florbetapir F18 PET Imaging and Amyloid Pathology in the Brain Completed NCT00857415 Phase 3 florbetapir F 18

Search NIH Clinical Center for Amyloidosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: amyloidosis

Sources

Genetic Tests for Amyloidosis

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Sources

Anatomical Context for Amyloidosis

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MalaCards organs/tissues related to Amyloidosis:

42
Brain, Heart, Liver, Bone, Kidney, Bone Marrow, Skin
Sources

Publications for Amyloidosis

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Articles related to Amyloidosis:

(show top 50) (show all 6178)
# Title Authors Year
1
Pulmonary AL- amyloidosis masquerading as lung malignancy in an Australian Indigenous patient with Sjogren's syndrome. ( 30560052 )
2019
2
Long-term outcome of kidney transplantation in AL amyloidosis. ( 30580886 )
2019
3
AL amyloidosis cardiac staging updated using BNP. ( 30655301 )
2019
4
BNP-based staging system in AL amyloidosis. ( 30655307 )
2019
5
Performance analysis of AL amyloidosis cardiac biomarker staging systems with special focus on renal failure and atrial arrhythmia. ( 30655373 )
2019
6
Symptomatic involvement of the stomach and duodenum as initial presentation of AL amyloidosis. ( 30659008 )
2019
7
A pilot study demonstrating cardiac uptake with 18F-florbetapir PET in AL amyloidosis patients with cardiac involvement. ( 30661419 )
2019
8
Efficacy of lenalidomide as salvage therapy for patients with AL amyloidosis. ( 30663408 )
2019
9
High-dose melphalan and autologous peripheral blood stem cell transplantation in patients with AL amyloidosis and cardiac defibrillators. ( 30664726 )
2019
10
Improved outcomes for kidney transplantation in AL amyloidosis: impact on practice. ( 30665564 )
2019
11
When should treatment of AL amyloidosis start at relapse? Early, to prevent organ progression. ( 30670537 )
2019
12
Delay treatment of AL amyloidosis at relapse until symptomatic: devil is in the details. ( 30670538 )
2019
13
Comparative analysis of staging systems in AL amyloidosis. ( 30675009 )
2019
14
AL amyloidosis with a localized B cell neoplasia. ( 30680453 )
2019
15
Incidence of AL Amyloidosis in Olmsted County, Minnesota, 1990 through 2015. ( 30713046 )
2019
16
Prognostic restaging at the time of second-line therapy in patients with AL amyloidosis. ( 30737485 )
2019
17
Hypocalcemia and hypophosphatemia after treatment with zoledronic acid in a patient with AL amyloidosis. ( 30771083 )
2019
18
Monoclonal Gammopathy Plus Positive Amyloid Biopsy Does Not Always Equal AL Amyloidosis. ( 30773682 )
2019
19
Associations between Health-Related Quality of Life and Self-Reported Emergency Room Department Visits and Inpatient Hospitalizations: Insights from a Secondary Data Analysis of Patients with Light-Chain (AL) Amyloidosis. ( 30796725 )
2019
20
Acquired factor X deficiency in light-chain (AL) amyloidosis is rare and associated with advanced disease. ( 30879471 )
2019
21
Radiologically Guided Renal Artery Embolization with an Amplatzer Vascular Plug as a Rescue Therapy for Refractory Nephrotic Syndrome in AL-Amyloidosis. ( 30886753 )
2019
22
Cryo-EM structure of cardiac amyloid fibrils from an immunoglobulin light chain AL amyloidosis patient. ( 30894521 )
2019
23
Cryo-EM structure of a light chain-derived amyloid fibril from a patient with systemic AL amyloidosis. ( 30894526 )
2019
24
Prognostic Significance of Holter Monitor Findings in Patients With Light Chain Amyloidosis. ( 30718070 )
2019
25
A novel mass spectrometry method to identify the serum monoclonal light chain component in systemic light chain amyloidosis. ( 30718462 )
2019
26
Doxycycline and Ursodiol for ATTR Amyloidosis: Not Ready for Prime Time. ( 30726714 )
2019
27
Cardiac amyloidosis: can imaging shed light on mechanisms and prognosis? ( 30726891 )
2019
28
Direct Current Cardioversion of Atrial Arrhythmias in Adults With Cardiac Amyloidosis. ( 30732713 )
2019
29
Cardiac Amyloidosis and the Risks of Cardioversion. ( 30732714 )
2019
30
Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis. ( 30734345 )
2019
31
Cell assay for the identification of amyloid inhibitors in systemic AA amyloidosis. ( 30739503 )
2019
32
Sex differences of Chinese patients with primary localized cutaneous amyloidosis. ( 30740762 )
2019
33
The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis. ( 30740936 )
2019
34
Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: a systematic review and meta-analysis. ( 30742933 )
2019
35
Clinicopathological Study of Primary Cutaneous Amyloidosis in a Tertiary Care Center of Eastern India Reveals Insignificant Association with Friction, Scrubbing, and Photo-Exposure: How valid is the "Keratinocyte Hypothesis"? ( 30745632 )
2019
36
Echocardiographic Findings in Cardiac Amyloidosis: Inside Two-Dimensional, Doppler, and Strain Imaging. ( 30747298 )
2019
37
Heart failure with preserved ejection fraction, atrial fibrillation, and the role of senile amyloidosis. ( 30753432 )
2019
38
Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights. ( 30764529 )
2019
39
Semi-quantitative indices of cardiac uptake in patients with suspected cardiac amyloidosis undergoing 99mTc-HMDP scintigraphy. ( 30767162 )
2019
40
Tafamidis for the treatment of transthyretin amyloidosis. ( 30767672 )
2019
41
A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing. ( 30770096 )
2019
42
Velocities of Naturally Occurring Myocardial Shear Waves Increase With Age and in Cardiac Amyloidosis. ( 30772218 )
2019
43
Outcome of Cardiac Light-Chain Amyloidosis in the Era of Novel Therapy　- A Single-Center Cohort Study of 227 Patients. ( 30773521 )
2019
44
Primary Systemic Amyloidosis. ( 30775311 )
2019
45
A case of spheroid-type localized lactoferrin amyloidosis in the bronchus. ( 30779453 )
2019
46
Chronic inflammation in adult familial Mediterranean fever patients: underlying causes and association with amyloidosis. ( 30786810 )
2019
47
Coexistence of cardiac amyloidosis with coronary artery disease and the challenges in medical management. ( 30788761 )
2019
48
Advances in the diagnosis and treatment of transthyretin amyloidosis with cardiac involvement. ( 30790171 )
2019
49
Gastric peroral endoscopic myotomy for transthyretin amyloidosis gastroparesis. ( 30791050 )
2019
50
Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. ( 30793974 )
2019
Sources

Variations for Amyloidosis

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ClinVar genetic disease variations for Amyloidosis:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.6577G> A (p.Glu2193Lys) single nucleotide variant Uncertain significance rs397516952 GRCh37 Chromosome 6, 7584072: 7584072
2 DSP NM_004415.3(DSP): c.6577G> A (p.Glu2193Lys) single nucleotide variant Uncertain significance rs397516952 GRCh38 Chromosome 6, 7583839: 7583839
3 GSN NM_000177.4(GSN): c.349+7C> T single nucleotide variant Likely benign rs146379508 GRCh37 Chromosome 9, 124064452: 124064452
4 GSN NM_000177.4(GSN): c.349+7C> T single nucleotide variant Likely benign rs146379508 GRCh38 Chromosome 9, 121302174: 121302174
5 GSN NM_000177.4(GSN): c.396C> T (p.Thr132=) single nucleotide variant Likely benign rs116956127 GRCh37 Chromosome 9, 124065235: 124065235
6 GSN NM_000177.4(GSN): c.396C> T (p.Thr132=) single nucleotide variant Likely benign rs116956127 GRCh38 Chromosome 9, 121302957: 121302957
7 GSN NM_000177.4(GSN): c.934G> A (p.Val312Ile) single nucleotide variant Uncertain significance rs745588757 GRCh37 Chromosome 9, 124079391: 124079391
8 GSN NM_000177.4(GSN): c.934G> A (p.Val312Ile) single nucleotide variant Uncertain significance rs745588757 GRCh38 Chromosome 9, 121317113: 121317113
9 GSN NM_000177.4(GSN): c.1323C> T (p.Asp441=) single nucleotide variant Likely benign rs147583697 GRCh37 Chromosome 9, 124081137: 124081137
10 GSN NM_000177.4(GSN): c.1323C> T (p.Asp441=) single nucleotide variant Likely benign rs147583697 GRCh38 Chromosome 9, 121318859: 121318859
11 GSN NM_000177.4(GSN): c.1378G> A (p.Val460Met) single nucleotide variant Likely benign rs140042418 GRCh37 Chromosome 9, 124083579: 124083579
12 GSN NM_000177.4(GSN): c.1378G> A (p.Val460Met) single nucleotide variant Likely benign rs140042418 GRCh38 Chromosome 9, 121321301: 121321301
13 GSN NM_000177.4(GSN): c.1640A> G (p.Tyr547Cys) single nucleotide variant Likely benign rs139832048 GRCh37 Chromosome 9, 124088860: 124088860
14 GSN NM_000177.4(GSN): c.1640A> G (p.Tyr547Cys) single nucleotide variant Likely benign rs139832048 GRCh38 Chromosome 9, 121326582: 121326582
15 GSN NM_000177.4(GSN): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely benign rs58750568 GRCh37 Chromosome 9, 124088886: 124088886
16 GSN NM_000177.4(GSN): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely benign rs58750568 GRCh38 Chromosome 9, 121326608: 121326608
17 GSN NM_000177.4(GSN): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs769400986 GRCh38 Chromosome 9, 121326648: 121326648
18 GSN NM_000177.4(GSN): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs769400986 GRCh37 Chromosome 9, 124088926: 124088926
19 GSN NM_000177.4(GSN): c.1716C> T (p.Ser572=) single nucleotide variant Likely benign rs140414249 GRCh38 Chromosome 9, 121326658: 121326658
20 GSN NM_000177.4(GSN): c.1716C> T (p.Ser572=) single nucleotide variant Likely benign rs140414249 GRCh37 Chromosome 9, 124088936: 124088936
21 GSN NM_000177.4(GSN): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs528604896 GRCh38 Chromosome 9, 121326672: 121326672
22 GSN NM_000177.4(GSN): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs528604896 GRCh37 Chromosome 9, 124088950: 124088950
23 GSN NM_000177.4(GSN): c.1816G> A (p.Val606Met) single nucleotide variant Likely benign rs151208452 GRCh38 Chromosome 9, 121327383: 121327383
24 GSN NM_000177.4(GSN): c.1816G> A (p.Val606Met) single nucleotide variant Likely benign rs151208452 GRCh37 Chromosome 9, 124089661: 124089661
25 GSN NM_000177.4(GSN): c.*205G> A single nucleotide variant Uncertain significance rs779431879 GRCh37 Chromosome 9, 124095086: 124095086
26 GSN NM_000177.4(GSN): c.*205G> A single nucleotide variant Uncertain significance rs779431879 GRCh38 Chromosome 9, 121332808: 121332808
27 GSN NM_000177.4(GSN): c.-36C> T single nucleotide variant Uncertain significance rs886063404 GRCh38 Chromosome 9, 121299826: 121299826
28 GSN NM_000177.4(GSN): c.-36C> T single nucleotide variant Uncertain significance rs886063404 GRCh37 Chromosome 9, 124062104: 124062104
29 GSN NM_000177.4(GSN): c.182A> G (p.Lys61Arg) single nucleotide variant Benign rs115224458 GRCh38 Chromosome 9, 121302000: 121302000
30 GSN NM_000177.4(GSN): c.182A> G (p.Lys61Arg) single nucleotide variant Benign rs115224458 GRCh37 Chromosome 9, 124064278: 124064278
31 GSN NM_000177.4(GSN): c.424C> T (p.Arg142Trp) single nucleotide variant Likely benign rs146956976 GRCh37 Chromosome 9, 124065263: 124065263
32 GSN NM_000177.4(GSN): c.424C> T (p.Arg142Trp) single nucleotide variant Likely benign rs146956976 GRCh38 Chromosome 9, 121302985: 121302985
33 GSN NM_000177.4(GSN): c.1190G> A (p.Arg397Gln) single nucleotide variant Uncertain significance rs372681751 GRCh37 Chromosome 9, 124081004: 124081004
34 GSN NM_000177.4(GSN): c.1190G> A (p.Arg397Gln) single nucleotide variant Uncertain significance rs372681751 GRCh38 Chromosome 9, 121318726: 121318726
35 GSN NM_000177.4(GSN): c.1413C> T (p.Gly471=) single nucleotide variant Benign rs2304393 GRCh37 Chromosome 9, 124083614: 124083614
36 GSN NM_000177.4(GSN): c.1413C> T (p.Gly471=) single nucleotide variant Benign rs2304393 GRCh38 Chromosome 9, 121321336: 121321336
37 GSN NM_000177.4(GSN): c.1688C> G (p.Thr563Ser) single nucleotide variant Likely benign rs77681311 GRCh37 Chromosome 9, 124088908: 124088908
38 GSN NM_000177.4(GSN): c.1688C> G (p.Thr563Ser) single nucleotide variant Likely benign rs77681311 GRCh38 Chromosome 9, 121326630: 121326630
39 GSN NM_000177.4(GSN): c.*111_*116dupGTGTGT duplication Uncertain significance rs147410423 GRCh38 Chromosome 9, 121332714: 121332719
40 GSN NM_000177.4(GSN): c.*111_*116dupGTGTGT duplication Uncertain significance rs147410423 GRCh37 Chromosome 9, 124094992: 124094997
41 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs71680051 GRCh38 Chromosome 9, 121332739: 121332739
42 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs71680051 GRCh37 Chromosome 9, 124095017: 124095017
43 GSN NM_000177.4(GSN): c.*194G> A single nucleotide variant Uncertain significance rs886063412 GRCh37 Chromosome 9, 124095075: 124095075
44 GSN NM_000177.4(GSN): c.*194G> A single nucleotide variant Uncertain significance rs886063412 GRCh38 Chromosome 9, 121332797: 121332797
45 GSN NM_000177.4(GSN): c.316G> A (p.Gly106Arg) single nucleotide variant Likely benign rs556563870 GRCh37 Chromosome 9, 124064412: 124064412
46 GSN NM_000177.4(GSN): c.316G> A (p.Gly106Arg) single nucleotide variant Likely benign rs556563870 GRCh38 Chromosome 9, 121302134: 121302134
47 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh38 Chromosome 9, 121310714: 121310714
48 GSN NM_000177.4(GSN): c.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh37 Chromosome 9, 124065224: 124065224
49 GSN NM_000177.4(GSN): c.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh38 Chromosome 9, 121302946: 121302946
50 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh37 Chromosome 9, 124072992: 124072992
Sources

Expression for Amyloidosis

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Search GEO for disease gene expression data for Amyloidosis.
Sources

Pathways for Amyloidosis

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Pathways related to Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.4 APP B2M CST3 FGA GSN IL31RA
2
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 67
Show member pathways
 13.37 APOA1 APP B2M CST3 FGA GSN
3
Metabolism of proteins 67
Show member pathways
 13.32 APOA1 APP B2M CST3 FGA GSN
4
Ca, cAMP and Lipid Signaling 4
11.74 APOA1 APOE GSN
5
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 67
Show member pathways
 11.64 APP MEFV NLRP3
6
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.56 APOA1 APOE SAA1
7
Selenium Micronutrient Network 1
Show member pathways
 11.43 APOA1 APOE SAA1 SAA2 SAA4 SERPINA3
8
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.71 OSMR SERPINA3
9
Advanced glycosylation endproduct receptor signaling 67
10.44 APP SAA1
Sources

GO Terms for Amyloidosis

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 APOA1 APP B2M FGA TNFRSF1A
2 collagen-containing extracellular matrix GO:0062023 9.86 APOA1 APOE FGA SERPINA3
3 extracellular region GO:0005576 9.83 APOA1 APOE APP B2M CST3 FGA
4 receptor complex GO:0043235 9.81 APP IL31RA OSMR TNFRSF1A
5 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOE APP B2M CST3 FGA
6 blood microparticle GO:0072562 9.77 APOA1 APOE FGA GSN SERPINA3
7 secretory granule lumen GO:0034774 9.76 APOA1 GSN SERPINA3
8 azurophil granule lumen GO:0035578 9.71 LYZ SERPINA3 TTR
9 platelet alpha granule lumen GO:0031093 9.7 APP FGA SERPINA3
10 tertiary granule lumen GO:1904724 9.67 B2M CST3 LYZ
11 extracellular vesicle GO:1903561 9.65 APOA1 APOE FGA
12 very-low-density lipoprotein particle GO:0034361 9.59 APOA1 APOE
13 endocytic vesicle lumen GO:0071682 9.58 APOA1 APOE SAA1
14 low-density lipoprotein particle GO:0034362 9.57 APOA1 APOE
15 chylomicron GO:0042627 9.55 APOA1 APOE
16 high-density lipoprotein particle GO:0034364 9.55 APOA1 APOE SAA1 SAA2 SAA4
17 extracellular space GO:0005615 9.5 APOA1 APOE APP B2M CST3 FGA
18 intermediate-density lipoprotein particle GO:0034363 9.46 APOA1 APOE
19 discoidal high-density lipoprotein particle GO:0034365 9.43 APOA1 APOE
20 extracellular exosome GO:0070062 10.07 APOA1 APOE APP B2M CST3 FGA

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.94 IL31RA OSMR SAA1 TNFRSF1A
2 inflammatory response GO:0006954 9.91 LYZ MEFV NLRP3 SERPINA3 TNFRSF1A
3 post-translational protein modification GO:0043687 9.89 APOA1 APOE APP CST3 FGA
4 innate immune response GO:0045087 9.85 APP B2M FGA MEFV NLRP3 SAA1
5 negative regulation of peptidase activity GO:0010466 9.84 APP CST3 SERPINA3
6 cell chemotaxis GO:0060326 9.8 SAA1 SAA2 SAA4
7 cholesterol metabolic process GO:0008203 9.8 APOA1 APOE APP
8 neutrophil degranulation GO:0043312 9.8 B2M CST3 GSN LYZ SERPINA3 TTR
9 defense response GO:0006952 9.73 CST3 IL31RA NLRP3 TNFRSF1A
10 retinoid metabolic process GO:0001523 9.71 APOA1 APOE TTR
11 platelet degranulation GO:0002576 9.71 APOA1 APP FGA SERPINA3
12 reverse cholesterol transport GO:0043691 9.66 APOA1 APOE
13 high-density lipoprotein particle remodeling GO:0034375 9.65 APOA1 APOE
14 positive regulation of lipid biosynthetic process GO:0046889 9.65 APOA1 APOE
15 negative regulation of interleukin-1 beta secretion GO:0050713 9.64 APOA1 NLRP3
16 high-density lipoprotein particle assembly GO:0034380 9.63 APOA1 APOE
17 phospholipid efflux GO:0033700 9.62 APOA1 APOE
18 chylomicron assembly GO:0034378 9.61 APOA1 APOE
19 high-density lipoprotein particle clearance GO:0034384 9.61 APOA1 APOE
20 negative regulation of long-term synaptic potentiation GO:1900272 9.6 APOE APP
21 amyloid fibril formation GO:1990000 9.59 APP GSN
22 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOE
23 very-low-density lipoprotein particle remodeling GO:0034372 9.58 APOA1 APOE
24 chylomicron remodeling GO:0034371 9.57 APOA1 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.56 APOA1 APOE
26 positive chemotaxis GO:0050918 9.56 GPNMB SAA1 SAA2 SAA4
27 regulation of cholesterol transport GO:0032374 9.55 APOA1 APOE
28 lipoprotein biosynthetic process GO:0042158 9.52 APOA1 APOE
29 positive regulation of amyloid fibril formation GO:1905908 9.48 APOE APP
30 regulation of tissue remodeling GO:0034103 9.46 CST3 GPNMB
31 acute-phase response GO:0006953 9.46 SAA1 SAA2 SAA4 SERPINA3
32 negative regulation of inflammatory response GO:0050728 9.43 APOA1 APOE MEFV NLRP3 SAA1 TNFRSF1A
33 cellular protein metabolic process GO:0044267 9.36 APOA1 APOE APP B2M CST3 FGA
34 immune system process GO:0002376 10.04 B2M FGA IL31RA MEFV NLRP3

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.61 APP CST3 SERPINA3
2 heparin binding GO:0008201 9.56 APOE APP GPNMB SAA1
3 amyloid-beta binding GO:0001540 9.46 APOA1 APOE CST3 IAPP
4 cholesterol transporter activity GO:0017127 9.4 APOA1 APOE
5 lipoprotein particle binding GO:0071813 9.37 APOA1 APOE
6 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOA1 APOE
7 identical protein binding GO:0042802 9.32 APOA1 APOE APP B2M CST3 IAPP
8 chemoattractant activity GO:0042056 9.26 GPNMB SAA1 SAA2 SAA4
Sources

Sources for Amyloidosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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