MCID: AMY004
MIFTS: 68

Amyloidosis

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

Aliases & Classifications for Amyloidosis

Summaries for Amyloidosis

MedlinePlus : 43 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 Dopamine and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are inguinal hernia and ureteral stenosis

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

Wikipedia : 76 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:

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 604)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 35.2 LYZ TTR
2 amyloidosis, hereditary, transthyretin-related 35.1 APOA1 GSN TTR
3 amyloidosis, finnish type 34.5 APOE GSN TTR
4 macular amyloidosis 34.2 IL31RA OSMR
5 lichen amyloidosis 34.2 IL31RA OSMR
6 hereditary amyloidosis 33.8 APOA1 B2M FGA GSN LYZ TTR
7 muckle-wells syndrome 33.6 MEFV NLRP3 TNFRSF1A
8 hereditary cerebral amyloid angiopathy 32.8 APP CST3
9 amyloidosis aa 32.7 APOA1 B2M MEFV SAA1 SAA2 SAA4
10 periodic fever, familial, autosomal dominant 32.4 LYZ MEFV NLRP3 TNFRSF1A
11 corneal dystrophy, lattice type i 32.3 GSN TGFBI
12 familial cold autoinflammatory syndrome 1 32.0 MEFV NLRP3 TNFRSF1A
13 cerebral amyloid angiopathy, cst3-related 31.8 APOE APP BACE1 CST3 TTR
14 cerebral hemorrhage 31.3 APP CST3
15 familial mediterranean fever 31.2 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
16 polyneuropathy 31.2 APOA1 GSN TTR
17 hyper-igd syndrome 30.8 SAA1 TNFRSF1A
18 amyloid neuropathy 30.5 APOA1 GSN TTR
19 amyloidosis, familial visceral 30.2 APOA1 B2M FGA GSN IAPP LYZ
20 wells syndrome 30.1 MEFV NLRP3 TNFRSF1A
21 cryopyrin-associated periodic syndrome 30.1 NLRP3 SAA4
22 senile plaque formation 29.9 APOE APP
23 inclusion body myositis 28.4 APOE APP BACE1
24 alzheimer disease 28.0 APOE APP BACE1 CST3 TNFRSF1A TTR
25 primary cutaneous amyloidosis 12.5
26 amyloidosis, primary localized cutaneous, 1 12.4
27 amyloidosis, primary localized cutaneous, 3 12.3
28 amyloidosis, primary localized cutaneous, 2 12.2
29 familial amyloidosis, finnish type 12.2
30 wild type attr amyloidosis 12.1
31 wild type abeta2m amyloidosis 12.1
32 aapoaii amyloidosis 12.1
33 aapoai amyloidosis 12.1
34 afib amyloidosis 12.1
35 cerebral amyloid angiopathy, app-related 12.1
36 primary localized amyloidosis 12.1
37 myeloma, multiple 12.0
38 ah amyloidosis 12.0
39 alect2 amyloidosis 12.0
40 amyloidosis beta2m 12.0
41 nodular cutaneous amyloidosis 11.9
42 variant abeta2m amyloidosis 11.9
43 aapoaiv amyloidosis 11.9
44 amyloidosis cutis dyschromia 11.9
45 corneal dystrophy, gelatinous drop-like 11.9
46 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.8
47 amyloidosis nodular localized cutaneous 11.8
48 amyloidosis of gingiva and conjunctiva with intellectual disability 11.8
49 prp systemic amyloidosis 11.8
50 amyloidosis of gingiva and conjunctiva, with mental retardation 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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 occasional (7.5%) HP:0000023
2 ureteral stenosis 32 occasional (7.5%) HP:0000071
3 renal insufficiency 32 frequent (33%) HP:0000083
4 nephrotic syndrome 32 frequent (33%) HP:0000100
5 everted lower lip vermilion 32 hallmark (90%) HP:0000232
6 protruding ear 32 hallmark (90%) HP:0000411
7 abnormality of vision 32 occasional (7.5%) HP:0000504
8 hyperkeratosis 32 occasional (7.5%) HP:0000962
9 corneal dystrophy 32 hallmark (90%) HP:0001131
10 hemiparesis 32 occasional (7.5%) HP:0001269
11 redundant skin 32 hallmark (90%) HP:0001582
12 abnormality of the cardiovascular system 32 frequent (33%) HP:0001626
13 talipes equinovarus 32 occasional (7.5%) HP:0001762
14 alopecia of scalp 32 occasional (7.5%) HP:0002293
15 abnormality of the immune system 32 hallmark (90%) HP:0002715
16 impaired pain sensation 32 occasional (7.5%) HP:0007328
17 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
18 aplasia/hypoplasia of the skin 32 hallmark (90%) HP:0008065
19 facial palsy 32 hallmark (90%) HP:0010628
20 morphological abnormality of the gastrointestinal tract 32 frequent (33%) HP:0012718
21 palpebral edema 32 hallmark (90%) HP:0100540
22 glomerulopathy 32 hallmark (90%) HP:0100820

MGI Mouse Phenotypes related to Amyloidosis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 BACE1 CST3 APP FGA APOA1 B2M
2 hematopoietic system MP:0005397 10.27 APP FGA B2M APOE NLRP3 IL31RA
3 cellular MP:0005384 10.25 BACE1 APOE APP APOA1 B2M NLRP3
4 growth/size/body region MP:0005378 10.22 B2M BACE1 APOE APP IAPP NLRP3
5 immune system MP:0005387 10.22 APP FGA B2M APOE NLRP3 IL31RA
6 cardiovascular system MP:0005385 10.18 B2M APOE CST3 APP APOA1 FGA
7 endocrine/exocrine gland MP:0005379 10.15 APOE APOA1 B2M FGA LYZ GSN
8 integument MP:0010771 10.15 BACE1 APP FGA APOA1 B2M APOE
9 mortality/aging MP:0010768 10.03 BACE1 APOE CST3 APP B2M NLRP3
10 liver/biliary system MP:0005370 9.97 APOE FGA APOA1 B2M NLRP3 LYZ
11 no phenotypic analysis MP:0003012 9.7 BACE1 APOE APP LYZ TNFRSF1A TTR
12 reproductive system MP:0005389 9.65 APOE CST3 APP FGA B2M NLRP3
13 skeleton MP:0005390 9.28 APOE IAPP IL31RA NLRP3 FGA LYZ

Drugs & Therapeutics for Amyloidosis

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

(show top 50) (show all 542)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
2
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
3
Pramlintide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 151126-32-8
4
Donepezil Approved Phase 4,Phase 2,Phase 3 120014-06-4 3152
5
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7440-66-6 23994
6
Exenatide Approved, Investigational Phase 4,Phase 2 141758-74-9 15991534
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Amlodipine Approved Phase 4,Phase 2 88150-42-9 2162
9
Simvastatin Approved Phase 4,Phase 2 79902-63-9 54454
10
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
11
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
12
Infliximab Approved Phase 4 170277-31-3
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
15
Clozapine Approved Phase 4 5786-21-0 2818
16
Galantamine Approved Phase 4 357-70-0 9651
17
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
18
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
19
Prednisolone Approved, Vet_approved Phase 4,Phase 1 50-24-8 5755
20
Ibuprofen Approved Phase 4 15687-27-1 3672
21
Pravastatin Approved Phase 4 81093-37-0 54687
22
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
23
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
24
Methylprednisolone Approved, Vet_approved Phase 4,Phase 1 83-43-2 6741
25
Insulin Aspart Approved Phase 4,Phase 2,Phase 1 116094-23-6 16132418
26
Insulin Glargine Approved Phase 4 160337-95-1
27
Insulin Detemir Approved Phase 4 169148-63-4 5311023
28
Insulin Lispro Approved Phase 4,Phase 2,Phase 1,Not Applicable 133107-64-9
29
alemtuzumab Approved, Investigational Phase 4 216503-57-0
30
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
31
Prazosin Approved Phase 4 19216-56-9 4893
32
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
33
Racepinephrine Approved Phase 4 329-65-7 838
34
Citalopram Approved Phase 4 59729-33-8 2771
35
Iodine Approved, Investigational Phase 4 7553-56-2 807
36
Huperzine A Approved, Investigational Phase 4 102518-79-6
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
38
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
39
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
40
Corticosterone Experimental Phase 4,Phase 2,Phase 1,Early Phase 1 50-22-6 5753
41 Lithium carbonate Phase 4,Phase 2 554-13-2
42 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 glucocorticoids Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
44
protease inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
45 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Adrenergic Agents Phase 4,Phase 2,Not Applicable
47 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
49 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
50 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 929)
# 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 Impact of FBB PET Amyloid Imaging in Change of Diagnosis in Patients With AD Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
3 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
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 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4 colchicine
9 Myocardial Protection of Exenatide in AMI Completed NCT01580514 Phase 4 exenatide BYETTA® (Amylin-Lilly);Saline
10 Continuous Subcutaneous Infusion of Pramlintide and Insulin Completed NCT00291772 Phase 4 Pramlintide
11 A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes Completed NCT00502138 Phase 4 Continuous Pramlintide infusion
12 Treatment Of Knee Osteoarthritis With Intra-Articular Infliximab Completed NCT01144143 Phase 4 Infliximab;Placebo;Standard of Care: Methylprednisolone acetate
13 Insulin Resistance and Central Nervous System (CNS) Function in Type 2 Diabetes Completed NCT00212290 Phase 4 pioglitazone;nateglinide;placebo
14 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)
15 Demonstrate the Effects of Pramlintide on Weight Reduction in Schizophrenia Completed NCT00690235 Phase 4 Pramlintide;Placebo
16 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
17 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
18 Double Blind Atorvastatin Amlodipine Study Completed NCT00159718 Phase 4 amlodipine;atorvastatin
19 Study to Determine the Digestive and Physiological Effects of an Extract From Bran in Healthy Men and Women Completed NCT01073969 Phase 4
20 Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia Completed NCT01269047 Phase 4 Pramlintide;Exenatide;Insulin
21 Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus Completed NCT00442767 Phase 4 Insulin;Pramlintide + Insulin
22 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Recruiting NCT03040427 Phase 4 F-18 florbetapir
23 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
24 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
25 Prazosin and CSF Biomarkers in mTBI Recruiting NCT03221751 Phase 4 prazosin hydrochloride;placebo
26 Trial of Simvastatin in Amnestic Mild Cognitive Impairment (MCI) Patients Recruiting NCT00842920 Phase 4 Simvastatin;Placebo
27 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
28 Lithium As a Treatment to Prevent Impairment of Cognition in Elders Recruiting NCT03185208 Phase 4 Lithium Carbonate;Placebo oral capsule
29 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
30 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
31 Pramlintide (Symlin) for the Treatment of Hypoglycemia Following Gastric Bypass Surgery Active, not recruiting NCT01841359 Phase 4 Pramlintide
32 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)
33 Longitudinal Imaging Biomarkers of Disease Progression in DLB Enrolling by invitation NCT03582488 Phase 4 18F-Flortaucipir
34 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
35 Cardiac Uptake of 18F Florbetapir in Patients Undergoing Chemotherapy Not yet recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
36 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Not yet recruiting NCT02931136 Phase 4 Huperzine A;Placebo
37 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
38 Nicotinic Acid Composition of HDL and Arterial Endothelium Function in Premature Coronary Heart Disease and High HDL Terminated NCT01450410 Phase 4 Nicotinic acid;Placebo
39 Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes Withdrawn NCT00505882 Phase 4 Pramlintide;Glargine;Lispro;Aspart
40 Efficacy Study of High Dose Symlin to Treat Type 2 Diabetes Mellitus Unknown status NCT01137695 Phase 3 Pramlintide;Pramlintide;Pramlintide;Pramlintide
41 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
42 Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis Completed NCT01998503 Phase 3 Bortezomib;dexamethasone;Melphalan
43 A Trial for Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3 BMDex
44 Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
45 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3 melphalan;dexamethasone;bortezomib
46 Intensive Versus Conventional Treatment in Patients With Primary Amyloidosis Completed NCT00344526 Phase 3 Melphalan;Dexamethasone
47 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
48 Phase III Study of the Correlation Between Florbetapir F18 PET Imaging and Amyloid Pathology in the Brain Completed NCT00857415 Phase 3 florbetapir F 18
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 73 / NDF-RT 51 :


Cochrane evidence based reviews: amyloidosis

Genetic Tests for Amyloidosis

Anatomical Context for Amyloidosis

MalaCards organs/tissues related to Amyloidosis:

41
Brain, Heart, Bone, Liver, Kidney, Bone Marrow, Breast

Publications for Amyloidosis

Articles related to Amyloidosis:

(show top 50) (show all 3251)
# Title Authors Year
1
Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis. ( 29891744 )
2018
2
Localised nasopharyngeal amyloidosis: the importance of postoperative follow-up. ( 29444790 )
2018
3
Growth Differentiation Factor 15 Is a New Biomarker for Survival and Renal Outcomes in Light Chain (AL) Amyloidosis. ( 29386197 )
2018
4
Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients. ( 29924456 )
2018
5
Dysphagia due to macroglossia in a patient with amyloidosis associated with multiple myeloma: A case report. ( 29889980 )
2018
6
Intratubular amyloid in light chain cast nephropathy is a risk factor for systemic light chain amyloidosis. ( 29052601 )
2018
7
A case of cardiac sarcoidosis mimicking cardiac amyloidosis on cardiovascular magnetic resonance. ( 29405655 )
2018
8
Transplantation within the era of anti il-1 therapy: case series of 5 patients with familial mediterranean fever related amyloidosis. ( 29957882 )
2018
9
A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis. ( 29651353 )
2018
10
Macroglossia in Light-Chain Amyloidosis. ( 29897852 )
2018
11
Modified high-dose melphalan and autologous stem cell transplantation for AL amyloidosis: Experience in 334 patients. ( 29933072 )
2018
12
MRI feature tracking strain is prognostic for all-cause mortality in AL amyloidosis. ( 29733684 )
2018
13
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
14
Evaluation of a new continuous mononuclear cell collection procedure in a single transplant center cohort enriched for AL amyloidosis patients. ( 29731423 )
2018
15
[<sup>18</sup>F]Florbetaben PET-CT confirms AL amyloidosis in a patient with WaldenstrAPm's Macroglobulinemia. ( 29650640 )
2018
16
Usefulness of gastroduodenal biopsy in the differential diagnosis of systemic AH amyloidosis from systemic AL amyloidosis. ( 29660165 )
2018
17
Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. ( 29970125 )
2018
18
Serum Transthyretin: Predictor of Amyloidosis Outcomes? ( 29449369 )
2018
19
Beltlike lichen planus pigmentosus complicated with focal amyloidosis. ( 29894539 )
2018
20
Light Chain Amyloidosis Presenting as Bilateral External Auditory Canal Obstructing Masses. ( 29957672 )
2018
21
Chronic and severe prosthetic joint infection complicated by amyloid A amyloidosis with renal and bladder impairment. ( 29437745 )
2018
22
Management of the elderly patient with AL amyloidosis. ( 29801808 )
2018
23
Venetoclax induced a complete response in a patient with AL amyloidosis plateaued on CyBorD. ( 29351984 )
2018
24
Cardiac amyloidosis: from clinical suspicion to morphological diagnosis. ( 29448998 )
2018
25
Coital Hemoptysis Due to Cardiac AL Amyloidosis. ( 29866287 )
2018
26
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 29972750 )
2018
27
Allergic bronchopulmonary aspergillosis presenting as nephrotic syndrome due to secondary amyloidosis: Case report and systematic review of the literature. ( 29970774 )
2018
28
SjAPgren Syndrome Complicated with Cystic Lung Disease and Pulmonary Amyloidosis. ( 29808154 )
2018
29
Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis. ( 29968409 )
2018
30
Dropped head syndrome with proximal myopathy revealing AL amyloidosis. ( 29653282 )
2018
31
Clinical characteristics and diagnosis of a rare case of systemic AL amyloidosis: a descriptive study. ( 29849940 )
2018
32
High-dose melphalan and stem cell transplantation in AL amyloidosis with elevated cardiac biomarkers. ( 29884854 )
2018
33
BehAset disease associated with gastrointestinal amyloidosis manifested as hematochezia: A case report. ( 29952963 )
2018
34
Comparative study of fractional CO<sub>2</sub> laser and fractional CO<sub>2</sub> laser-assisted drug delivery of topical steroid and topical vitamin C in macular amyloidosis. ( 29480422 )
2018
35
Novel Approaches for the Management of AL Amyloidosis. ( 29951831 )
2018
36
Taking a deeper insight into the burden of cardiac amyloidosis: Has 3D speckle tracking echocardiographic strain come of age? ( 29934229 )
2018
37
Lichen amyloidosis successfully treated with fractional ablative laser CO<sub>2</sub>: A new alternative therapeutic. ( 29400590 )
2018
38
Atraumatic Splenic Rupture Due to Ectopic Extramedullary Hematopoiesis after Autologous Stem Cell Transplantation in a Patient with AL Amyloidosis. ( 29093392 )
2018
39
Epidemiology of AL amyloidosis: a real-world study using US claims data. ( 29748430 )
2018
40
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. ( 29455155 )
2018
41
Primary Sjogren syndrome diagnosed simultaneously with localized amyloidosis of the lacrimal gland: A case report. ( 29879064 )
2018
42
Predictive value of the new renal response criteria in AL amyloidosis treated with high dose melphalan and stem cell transplantation. ( 29430701 )
2018
43
Macroglossia And Amyloidosis. ( 29939317 )
2018
44
Secondary gastrointestinal amyloid A amyloidosis possibly caused by hidradenitis suppurativa. ( 29933503 )
2018
45
The use of serum free light chain dimerization patterns assist in the diagnosis of AL amyloidosis. ( 29767409 )
2018
46
Autologous stem cell transplant for AL amyloidosis patients aged 70 to 75. ( 29933071 )
2018
47
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. ( 29972753 )
2018
48
Methotrexate for the Treatment of Recalcitrant Primary Localized Cutaneous Amyloidosis: A Case Series. ( 29944169 )
2018
49
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis. ( 29939164 )
2018
50
Cardiac amyloidosis: A new challenge of multimodality imaging. ( 29946823 )
2018

Variations for Amyloidosis

ClinVar genetic disease variations for Amyloidosis:

6
(show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 GSN NM_000177.4(GSN): c.349+7C> T single nucleotide variant Likely benign rs146379508 GRCh38 Chromosome 9, 121302174: 121302174
2 GSN NM_000177.4(GSN): c.349+7C> T single nucleotide variant Likely benign rs146379508 GRCh37 Chromosome 9, 124064452: 124064452
3 GSN NM_000177.4(GSN): c.396C> T (p.Thr132=) single nucleotide variant Likely benign rs116956127 GRCh37 Chromosome 9, 124065235: 124065235
4 GSN NM_000177.4(GSN): c.396C> T (p.Thr132=) single nucleotide variant Likely benign rs116956127 GRCh38 Chromosome 9, 121302957: 121302957
5 GSN NM_000177.4(GSN): c.934G> A (p.Val312Ile) single nucleotide variant Uncertain significance rs745588757 GRCh37 Chromosome 9, 124079391: 124079391
6 GSN NM_000177.4(GSN): c.934G> A (p.Val312Ile) single nucleotide variant Uncertain significance rs745588757 GRCh38 Chromosome 9, 121317113: 121317113
7 GSN NM_000177.4(GSN): c.1323C> T (p.Asp441=) single nucleotide variant Likely benign rs147583697 GRCh37 Chromosome 9, 124081137: 124081137
8 GSN NM_000177.4(GSN): c.1323C> T (p.Asp441=) single nucleotide variant Likely benign rs147583697 GRCh38 Chromosome 9, 121318859: 121318859
9 GSN NM_000177.4(GSN): c.1378G> A (p.Val460Met) single nucleotide variant Likely benign rs140042418 GRCh37 Chromosome 9, 124083579: 124083579
10 GSN NM_000177.4(GSN): c.1378G> A (p.Val460Met) single nucleotide variant Likely benign rs140042418 GRCh38 Chromosome 9, 121321301: 121321301
11 GSN NM_000177.4(GSN): c.1640A> G (p.Tyr547Cys) single nucleotide variant Likely benign rs139832048 GRCh37 Chromosome 9, 124088860: 124088860
12 GSN NM_000177.4(GSN): c.1640A> G (p.Tyr547Cys) single nucleotide variant Likely benign rs139832048 GRCh38 Chromosome 9, 121326582: 121326582
13 GSN NM_000177.4(GSN): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely benign rs58750568 GRCh37 Chromosome 9, 124088886: 124088886
14 GSN NM_000177.4(GSN): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely benign rs58750568 GRCh38 Chromosome 9, 121326608: 121326608
15 GSN NM_000177.4(GSN): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs769400986 GRCh38 Chromosome 9, 121326648: 121326648
16 GSN NM_000177.4(GSN): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs769400986 GRCh37 Chromosome 9, 124088926: 124088926
17 GSN NM_000177.4(GSN): c.1716C> T (p.Ser572=) single nucleotide variant Likely benign rs140414249 GRCh38 Chromosome 9, 121326658: 121326658
18 GSN NM_000177.4(GSN): c.1716C> T (p.Ser572=) single nucleotide variant Likely benign rs140414249 GRCh37 Chromosome 9, 124088936: 124088936
19 GSN NM_000177.4(GSN): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs528604896 GRCh38 Chromosome 9, 121326672: 121326672
20 GSN NM_000177.4(GSN): c.1730G> A (p.Arg577Gln) single nucleotide variant Uncertain significance rs528604896 GRCh37 Chromosome 9, 124088950: 124088950
21 GSN NM_000177.4(GSN): c.1816G> A (p.Val606Met) single nucleotide variant Likely benign rs151208452 GRCh38 Chromosome 9, 121327383: 121327383
22 GSN NM_000177.4(GSN): c.1816G> A (p.Val606Met) single nucleotide variant Likely benign rs151208452 GRCh37 Chromosome 9, 124089661: 124089661
23 GSN NM_000177.4(GSN): c.*205G> A single nucleotide variant Uncertain significance rs779431879 GRCh37 Chromosome 9, 124095086: 124095086
24 GSN NM_000177.4(GSN): c.*205G> A single nucleotide variant Uncertain significance rs779431879 GRCh38 Chromosome 9, 121332808: 121332808
25 GSN NM_000177.4(GSN): c.1413C> T (p.Gly471=) single nucleotide variant Benign rs2304393 GRCh38 Chromosome 9, 121321336: 121321336
26 GSN NM_000177.4(GSN): c.1413C> T (p.Gly471=) single nucleotide variant Benign rs2304393 GRCh37 Chromosome 9, 124083614: 124083614
27 GSN NM_000177.4(GSN): c.-36C> T single nucleotide variant Uncertain significance rs886063404 GRCh37 Chromosome 9, 124062104: 124062104
28 GSN NM_000177.4(GSN): c.-36C> T single nucleotide variant Uncertain significance rs886063404 GRCh38 Chromosome 9, 121299826: 121299826
29 GSN NM_000177.4(GSN): c.182A> G (p.Lys61Arg) single nucleotide variant Benign rs115224458 GRCh37 Chromosome 9, 124064278: 124064278
30 GSN NM_000177.4(GSN): c.182A> G (p.Lys61Arg) single nucleotide variant Benign rs115224458 GRCh38 Chromosome 9, 121302000: 121302000
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.1688C> G (p.Thr563Ser) single nucleotide variant Likely benign rs77681311 GRCh37 Chromosome 9, 124088908: 124088908
36 GSN NM_000177.4(GSN): c.1688C> G (p.Thr563Ser) single nucleotide variant Likely benign rs77681311 GRCh38 Chromosome 9, 121326630: 121326630
37 GSN NM_000177.4(GSN): c.*111_*116dupGTGTGT duplication Uncertain significance rs751044080 GRCh37 Chromosome 9, 124094992: 124094997
38 GSN NM_000177.4(GSN): c.*111_*116dupGTGTGT duplication Uncertain significance rs751044080 GRCh38 Chromosome 9, 121332714: 121332719
39 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs377469209 GRCh37 Chromosome 9, 124095017: 124095017
40 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs377469209 GRCh38 Chromosome 9, 121332739: 121332739
41 GSN NM_000177.4(GSN): c.*194G> A single nucleotide variant Uncertain significance rs886063412 GRCh37 Chromosome 9, 124095075: 124095075
42 GSN NM_000177.4(GSN): c.*194G> A single nucleotide variant Uncertain significance rs886063412 GRCh38 Chromosome 9, 121332797: 121332797
43 GSN NM_000177.4(GSN): c.316G> A (p.Gly106Arg) single nucleotide variant Likely benign rs556563870 GRCh37 Chromosome 9, 124064412: 124064412
44 GSN NM_000177.4(GSN): c.316G> A (p.Gly106Arg) single nucleotide variant Likely benign rs556563870 GRCh38 Chromosome 9, 121302134: 121302134
45 GSN NM_000177.4(GSN): c.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh37 Chromosome 9, 124065224: 124065224
46 GSN NM_000177.4(GSN): c.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh38 Chromosome 9, 121302946: 121302946
47 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh37 Chromosome 9, 124072992: 124072992
48 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh38 Chromosome 9, 121310714: 121310714
49 GSN NM_000177.4(GSN): c.699T> G (p.Asn233Lys) single nucleotide variant Uncertain significance rs752698745 GRCh37 Chromosome 9, 124074649: 124074649
50 GSN NM_000177.4(GSN): c.699T> G (p.Asn233Lys) single nucleotide variant Uncertain significance rs752698745 GRCh38 Chromosome 9, 121312371: 121312371

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 extracellular region GO:0005576 9.83 APOA1 APOE APP B2M CST3 FGA
3 blood microparticle GO:0072562 9.81 APOA1 APOE FGA GSN
4 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOE APP B2M BACE1 CST3
5 tertiary granule lumen GO:1904724 9.67 B2M CST3 LYZ
6 extracellular vesicle GO:1903561 9.65 APOA1 APOE FGA
7 very-low-density lipoprotein particle GO:0034361 9.55 APOA1 APOE
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 33)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.96 IL31RA OSMR SAA1 TNFRSF1A
2 apoptotic process GO:0006915 9.95 APP CST3 GSN IAPP NLRP3 TNFRSF1A
3 extracellular matrix organization GO:0030198 9.84 APP FGA TGFBI TTR
4 post-translational protein modification GO:0043687 9.83 APOA1 APOE APP CST3 FGA
5 cholesterol metabolic process GO:0008203 9.8 APOA1 APOE APP
6 cell chemotaxis GO:0060326 9.79 SAA1 SAA2 SAA4
7 defense response GO:0006952 9.71 CST3 IL31RA NLRP3 TNFRSF1A
8 retinoid metabolic process GO:0001523 9.7 APOA1 APOE TTR
9 reverse cholesterol transport GO:0043691 9.65 APOA1 APOE
10 high-density lipoprotein particle remodeling GO:0034375 9.65 APOA1 APOE
11 positive regulation of lipid biosynthetic process GO:0046889 9.65 APOA1 APOE
12 negative regulation of interleukin-1 beta secretion GO:0050713 9.64 APOA1 NLRP3
13 high-density lipoprotein particle assembly GO:0034380 9.63 APOA1 APOE
14 innate immune response GO:0045087 9.63 APP B2M FGA MEFV NLRP3 SAA1
15 phospholipid efflux GO:0033700 9.62 APOA1 APOE
16 chylomicron assembly GO:0034378 9.61 APOA1 APOE
17 amyloid fibril formation GO:1990000 9.6 APP GSN
18 very-low-density lipoprotein particle remodeling GO:0034372 9.59 APOA1 APOE
19 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOE
20 high-density lipoprotein particle clearance GO:0034384 9.58 APOA1 APOE
21 chylomicron remodeling GO:0034371 9.57 APOA1 APOE
22 neuron projection regeneration GO:0031102 9.56 APOA1 APOE
23 negative regulation of long-term synaptic potentiation GO:1900272 9.55 APOE APP
24 regulation of cholesterol transport GO:0032374 9.51 APOA1 APOE
25 positive chemotaxis GO:0050918 9.5 SAA1 SAA2 SAA4
26 regulation of Cdc42 protein signal transduction GO:0032489 9.49 APOA1 APOE
27 lipoprotein biosynthetic process GO:0042158 9.46 APOA1 APOE
28 cellular protein metabolic process GO:0044267 9.44 APOA1 APOE APP B2M BACE1 CST3
29 acute-phase response GO:0006953 9.43 SAA1 SAA2 SAA4
30 negative regulation of inflammatory response GO:0050728 9.43 APOA1 APOE MEFV NLRP3 SAA1 TNFRSF1A
31 positive regulation of amyloid fibril formation GO:1905908 9.37 APOE APP
32 immune system process GO:0002376 10.04 B2M FGA IL31RA MEFV NLRP3
33 neutrophil degranulation GO:0043312 10.02 B2M CST3 GSN LYZ TTR

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol transporter activity GO:0017127 9.37 APOA1 APOE
2 identical protein binding GO:0042802 9.36 APOA1 APOE APP B2M CST3 IAPP
3 amyloid-beta binding GO:0001540 9.35 APOA1 APOE BACE1 CST3 IAPP
4 chemoattractant activity GO:0042056 9.33 SAA1 SAA2 SAA4
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOA1 APOE
6 lipoprotein particle binding GO:0071813 9.26 APOA1 APOE

Sources for Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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