MCID: AMY004
MIFTS: 68

Amyloidosis

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare 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 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 Huperzine A and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and bone, and related phenotypes are facial palsy and inguinal hernia

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 : 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 719)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 34.5 APOA1 GSN TTR
2 al amyloidosis 34.4 B2M LYZ TTR
3 amyloidosis, finnish type 34.2 APOE GSN TTR
4 hereditary amyloidosis 34.0 APOA1 B2M FGA GSN LYZ TTR
5 amyloidosis aa 33.7 APOA1 B2M MEFV SAA1 SAA2 SAA4
6 cerebral amyloid angiopathy, app-related 33.5 APP CST3
7 muckle-wells syndrome 33.5 MEFV NLRP3 TNFRSF1A
8 lichen amyloidosis 33.5 GPNMB IL31RA OSMR
9 macular amyloidosis 33.5 GPNMB IL31RA OSMR
10 cerebral amyloid angiopathy, cst3-related 33.3 APOE APP CST3 GSN TTR
11 amyloidosis, familial visceral 32.9 APOA1 B2M FGA GSN IAPP LYZ
12 periodic fever, familial, autosomal dominant 32.5 LYZ MEFV NLRP3 TNFRSF1A
13 familial mediterranean fever 32.3 MEFV NLRP3 SAA1 SAA2 SAA4 TNFRSF1A
14 hereditary cerebral amyloid angiopathy 32.2 APP CST3
15 familial cold autoinflammatory syndrome 1 31.9 MEFV NLRP3 TNFRSF1A
16 hyper-igd syndrome 31.1 SAA1 TNFRSF1A
17 cerebral hemorrhage 30.9 APP CST3
18 polyneuropathy 30.8 APOA1 GSN TTR
19 wells syndrome 30.0 MEFV NLRP3 TNFRSF1A
20 alzheimer disease 29.9 APOE APP BACE1 CST3 TNFRSF1A TTR
21 cryopyrin-associated periodic syndrome 29.8 NLRP3 SAA4
22 dementia 29.7 APOE APP BACE1 TTR
23 senile plaque formation 29.5 APOE APP
24 vascular disease 29.4 APOA1 APOE CST3 FGA
25 inclusion body myositis 29.0 APOE APP BACE1
26 primary cutaneous amyloidosis 12.6
27 amyloidosis, primary localized cutaneous, 1 12.6
28 amyloidosis, primary localized cutaneous, 3 12.5
29 amyloidosis, primary localized cutaneous, 2 12.4
30 familial amyloidosis, finnish type 12.4
31 wild type attr amyloidosis 12.3
32 aapoaii amyloidosis 12.3
33 aapoai amyloidosis 12.2
34 afib amyloidosis 12.2
35 primary localized amyloidosis 12.2
36 myeloma, multiple 12.2
37 ah amyloidosis 12.2
38 alect2 amyloidosis 12.2
39 amyloidosis beta2m 12.2
40 wild type abeta2m amyloidosis 12.1
41 nodular cutaneous amyloidosis 12.1
42 variant abeta2m amyloidosis 12.1
43 aapoaiv amyloidosis 12.1
44 amyloidosis nodular localized cutaneous 12.1
45 corneal dystrophy, gelatinous drop-like 12.1
46 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.9
47 amyloidosis of gingiva and conjunctiva with intellectual disability 11.9
48 prp systemic amyloidosis 11.9
49 amyloidosis of gingiva and conjunctiva, with mental retardation 11.9
50 amyloidosis, cutaneous bullous 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

Symptoms & Phenotypes for Amyloidosis

Human phenotypes related to Amyloidosis:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 GSN
2 Decreased viability GR00106-A-0 10.1 TNFRSF1A
3 Decreased viability GR00240-S-1 10.1 MEFV SAA2 SAA4
4 Decreased viability GR00381-A-1 10.1 MEFV SAA1
5 Decreased viability GR00381-A-3 10.1 SAA1
6 Decreased viability GR00402-S-2 10.1 APOA1 APOE APP B2M BACE1 CST3
7 no effect GR00402-S-1 9.62 APOA1 APOE APP B2M BACE1 CST3

MGI Mouse Phenotypes related to Amyloidosis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 APOA1 APOE APP B2M BACE1 CST3
2 hematopoietic system MP:0005397 10.27 APOE APP B2M FGA GPNMB GSN
3 immune system MP:0005387 10.22 APOE APP B2M FGA GPNMB GSN
4 cardiovascular system MP:0005385 10.19 APOA1 APOE APP B2M CST3 FGA
5 integument MP:0010771 10.15 APOA1 APOE APP B2M BACE1 FGA
6 digestive/alimentary MP:0005381 10.02 APOE B2M FGA LYZ NLRP3 TNFRSF1A
7 nervous system MP:0003631 10 APOE APP B2M BACE1 CST3 FGA
8 liver/biliary system MP:0005370 9.97 APOA1 APOE B2M FGA LYZ MEFV
9 no phenotypic analysis MP:0003012 9.7 APOE APP BACE1 LYZ OSMR TNFRSF1A
10 reproductive system MP:0005389 9.65 APOE APP B2M CST3 FGA GSN
11 skeleton MP:0005390 9.28 APOE FGA GSN IAPP IL31RA LYZ

Drugs & Therapeutics for Amyloidosis

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

(show top 50) (show all 550)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Huperzine A Approved, Experimental Phase 4 102518-79-6
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,Early Phase 1 151126-32-8
4
Dopamine Approved Phase 4,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
5
Donepezil Approved Phase 4,Phase 2,Phase 3 120014-06-4 3152
6
Lithium carbonate Approved Phase 4,Phase 2 554-13-2
7
Ibuprofen Approved Phase 4 15687-27-1 3672
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
11
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
12
Pravastatin Approved Phase 4 81093-37-0 54687
13
Simvastatin Approved Phase 4,Phase 2 79902-63-9 54454
14
Exenatide Approved, Investigational Phase 4,Phase 2 141758-74-9 15991534
15
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 1 302-25-0
16
Methylprednisolone Approved, Vet_approved Phase 4,Phase 1 83-43-2 6741
17
Prednisolone Approved, Vet_approved Phase 4,Phase 1 50-24-8 5755
18
Methylprednisolone hemisuccinate Approved Phase 4,Phase 1 2921-57-5
19
Infliximab Approved Phase 4 170277-31-3
20
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
21
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
22
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
23
Clozapine Approved Phase 4 5786-21-0 2818
24
Insulin Glargine Approved Phase 4 160337-95-1
25
Galantamine Approved Phase 4 357-70-0 9651
26
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
27
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
28
Amlodipine Approved Phase 4,Phase 2 88150-42-9 2162
29
Insulin Detemir Approved Phase 4 169148-63-4 5311023
30
Insulin Lispro Approved Phase 4,Phase 2,Phase 1,Not Applicable 133107-64-9
31
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 7440-66-6
32
Insulin Aspart Approved Phase 4,Phase 2,Phase 1 116094-23-6 16132418
33
Prazosin Approved Phase 4 19216-56-9 4893
34
Racepinephrine Approved Phase 4 329-65-7 838
35
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
36
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
37
alemtuzumab Approved, Investigational Phase 4 216503-57-0
38
Citalopram Approved Phase 4 59729-33-8 2771
39
Iodine Approved, Investigational Phase 4 7553-56-2 807
40
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
42
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 11103-57-4, 68-26-8 445354
43
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
44
Prednisolone hemisuccinate Experimental Phase 4,Phase 1 2920-86-7
45
Corticosterone Experimental Phase 4,Phase 2,Phase 1,Early Phase 1 50-22-6 5753
46 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 989)
# Name Status NCT ID Phase Drugs
1 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Unknown status NCT02931136 Phase 4 Huperzine A;Placebo
2 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
3 Impact of FBB PET Amyloid Imaging in Change of Diagnosis in Patients With AD Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
4 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
5 Studying the Effects of Antihypertensives on Individuals at Risk for Alzheimer's Completed NCT00980785 Phase 4 Ramipril;Placebo
6 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
7 Anti-Inflammatory Actions of Valsartan in Patients With Type 2 Diabetes Mellitus Completed NCT00982358 Phase 4 Valsartan
8 Do HMG CoA Reductase Inhibitors Affect Abeta Levels? Completed NCT00303277 Phase 4 simvastatin;pravastatin
9 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4 colchicine
10 Myocardial Protection of Exenatide in AMI Completed NCT01580514 Phase 4 exenatide BYETTA® (Amylin-Lilly);Saline
11 Continuous Subcutaneous Infusion of Pramlintide and Insulin Completed NCT00291772 Phase 4 Pramlintide
12 A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes Completed NCT00502138 Phase 4 Continuous Pramlintide infusion
13 Treatment Of Knee Osteoarthritis With Intra-Articular Infliximab Completed NCT01144143 Phase 4 Infliximab;Placebo;Standard of Care: Methylprednisolone acetate
14 Insulin Resistance and Central Nervous System (CNS) Function in Type 2 Diabetes Completed NCT00212290 Phase 4 pioglitazone;nateglinide;placebo
15 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)
16 Demonstrate the Effects of Pramlintide on Weight Reduction in Schizophrenia Completed NCT00690235 Phase 4 Pramlintide;Placebo
17 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
18 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
19 Double Blind Atorvastatin Amlodipine Study Completed NCT00159718 Phase 4 amlodipine;atorvastatin
20 Study to Determine the Digestive and Physiological Effects of an Extract From Bran in Healthy Men and Women Completed NCT01073969 Phase 4
21 Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia Completed NCT01269047 Phase 4 Pramlintide;Exenatide;Insulin
22 Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus Completed NCT00442767 Phase 4 Insulin;Pramlintide + Insulin
23 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Recruiting NCT03040427 Phase 4 F-18 florbetapir
24 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
25 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
26 Prazosin and CSF Biomarkers in mTBI Recruiting NCT03221751 Phase 4 prazosin hydrochloride;placebo
27 Trial of Simvastatin in Amnestic Mild Cognitive Impairment (MCI) Patients Recruiting NCT00842920 Phase 4 Simvastatin;Placebo
28 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
29 Lithium As a Treatment to Prevent Impairment of Cognition in Elders Recruiting NCT03185208 Phase 4 Lithium Carbonate;Placebo oral capsule
30 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
31 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
32 Pramlintide (Symlin) for the Treatment of Hypoglycemia Following Gastric Bypass Surgery Active, not recruiting NCT01841359 Phase 4 Pramlintide
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 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
39 Nicotinic Acid Composition of HDL and Arterial Endothelium Function in Premature Coronary Heart Disease and High HDL Terminated NCT01450410 Phase 4 Nicotinic acid;Placebo
40 Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes Withdrawn NCT00505882 Phase 4 Pramlintide;Glargine;Lispro;Aspart
41 Efficacy Study of High Dose Symlin to Treat Type 2 Diabetes Mellitus Unknown status NCT01137695 Phase 3 Pramlintide;Pramlintide;Pramlintide;Pramlintide
42 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
43 Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis Completed NCT01998503 Phase 3 Bortezomib;dexamethasone;Melphalan
44 A Trial for Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3 BMDex
45 Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis Completed NCT01215747 Phase 3 KIACTA (eprodisate disodium);Placebo
46 Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis Completed NCT01078454 Phase 3 melphalan;dexamethasone;bortezomib
47 Intensive Versus Conventional Treatment in Patients With Primary Amyloidosis Completed NCT00344526 Phase 3 Melphalan;Dexamethasone
48 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
49 Phase III Study of the Correlation Between Florbetapir F18 PET Imaging and Amyloid Pathology in the Brain Completed NCT00857415 Phase 3 florbetapir F 18
50 Positron Emission Tomography (PET) Amyloid Imaging of the Brain in Healthy Young Adult Subjects Completed NCT01265394 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
Heart, Liver, Bone, Kidney, Bone Marrow, Skin, Brain

Publications for Amyloidosis

Articles related to Amyloidosis:

(show top 50) (show all 4966)
# Title Authors Year
1
Assays for Light Chain Amyloidosis Formation and Cytotoxicity. ( 30341607 )
2019
2
Base-to-apex gradient pattern of cardiac impairment identified on myocardial T1 mapping in cardiac amyloidosis. ( 30364800 )
2019
3
Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis. ( 29891744 )
2018
4
Localised nasopharyngeal amyloidosis: the importance of postoperative follow-up. ( 29444790 )
2018
5
Growth Differentiation Factor 15 Is a New Biomarker for Survival and Renal Outcomes in Light Chain (AL) Amyloidosis. ( 29386197 )
2018
6
Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients. ( 29924456 )
2018
7
Dysphagia due to macroglossia in a patient with amyloidosis associated with multiple myeloma: A case report. ( 29889980 )
2018
8
Intratubular amyloid in light chain cast nephropathy is a risk factor for systemic light chain amyloidosis. ( 29052601 )
2018
9
A case of cardiac sarcoidosis mimicking cardiac amyloidosis on cardiovascular magnetic resonance. ( 29405655 )
2018
10
Transplantation within the era of anti il-1 therapy: case series of 5 patients with familial mediterranean fever related amyloidosis. ( 29957882 )
2018
11
A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis. ( 29651353 )
2018
12
Macroglossia in Light-Chain Amyloidosis. ( 29897852 )
2018
13
Modified high-dose melphalan and autologous stem cell transplantation for AL amyloidosis: Experience in 334 patients. ( 29933072 )
2018
14
MRI feature tracking strain is prognostic for all-cause mortality in AL amyloidosis. ( 29733684 )
2018
15
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
16
Evaluation of a new continuous mononuclear cell collection procedure in a single transplant center cohort enriched for AL amyloidosis patients. ( 29731423 )
2018
17
[<sup>18</sup>F]Florbetaben PET-CT confirms AL amyloidosis in a patient with WaldenstrAPm's Macroglobulinemia. ( 29650640 )
2018
18
Usefulness of gastroduodenal biopsy in the differential diagnosis of systemic AH amyloidosis from systemic AL amyloidosis. ( 29660165 )
2018
19
Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. ( 29970125 )
2018
20
Serum Transthyretin: Predictor of Amyloidosis Outcomes? ( 29449369 )
2018
21
Beltlike lichen planus pigmentosus complicated with focal amyloidosis. ( 29894539 )
2018
22
Light Chain Amyloidosis Presenting as Bilateral External Auditory Canal Obstructing Masses. ( 29957672 )
2018
23
Chronic and severe prosthetic joint infection complicated by amyloid A amyloidosis with renal and bladder impairment. ( 29437745 )
2018
24
Management of the elderly patient with AL amyloidosis. ( 29801808 )
2018
25
Venetoclax induced a complete response in a patient with AL amyloidosis plateaued on CyBorD. ( 29351984 )
2018
26
Cardiac amyloidosis: from clinical suspicion to morphological diagnosis. ( 29448998 )
2018
27
Coital Hemoptysis Due to Cardiac AL Amyloidosis. ( 29866287 )
2018
28
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 29972750 )
2018
29
Allergic bronchopulmonary aspergillosis presenting as nephrotic syndrome due to secondary amyloidosis: Case report and systematic review of the literature. ( 29970774 )
2018
30
SjAPgren Syndrome Complicated with Cystic Lung Disease and Pulmonary Amyloidosis. ( 29808154 )
2018
31
Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis. ( 29968409 )
2018
32
Dropped head syndrome with proximal myopathy revealing AL amyloidosis. ( 29653282 )
2018
33
Clinical characteristics and diagnosis of a rare case of systemic AL amyloidosis: a descriptive study. ( 29849940 )
2018
34
High-dose melphalan and stem cell transplantation in AL amyloidosis with elevated cardiac biomarkers. ( 29884854 )
2018
35
BehAset disease associated with gastrointestinal amyloidosis manifested as hematochezia: A case report. ( 29952963 )
2018
36
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
37
Novel Approaches for the Management of AL Amyloidosis. ( 29951831 )
2018
38
Taking a deeper insight into the burden of cardiac amyloidosis: Has 3D speckle tracking echocardiographic strain come of age? ( 29934229 )
2018
39
Lichen amyloidosis successfully treated with fractional ablative laser CO<sub>2</sub>: A new alternative therapeutic. ( 29400590 )
2018
40
Atraumatic Splenic Rupture Due to Ectopic Extramedullary Hematopoiesis after Autologous Stem Cell Transplantation in a Patient with AL Amyloidosis. ( 29093392 )
2018
41
Epidemiology of AL amyloidosis: a real-world study using US claims data. ( 29748430 )
2018
42
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. ( 29455155 )
2018
43
Primary Sjogren syndrome diagnosed simultaneously with localized amyloidosis of the lacrimal gland: A case report. ( 29879064 )
2018
44
Predictive value of the new renal response criteria in AL amyloidosis treated with high dose melphalan and stem cell transplantation. ( 29430701 )
2018
45
Macroglossia And Amyloidosis. ( 29939317 )
2018
46
Secondary gastrointestinal amyloid A amyloidosis possibly caused by hidradenitis suppurativa. ( 29933503 )
2018
47
The use of serum free light chain dimerization patterns assist in the diagnosis of AL amyloidosis. ( 29767409 )
2018
48
Autologous stem cell transplant for AL amyloidosis patients aged 70 to 75. ( 29933071 )
2018
49
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. ( 29972753 )
2018
50
Methotrexate for the Treatment of Recalcitrant Primary Localized Cutaneous Amyloidosis: A Case Series. ( 29944169 )
2018

Variations for Amyloidosis

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 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.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 rs751044080 GRCh37 Chromosome 9, 124094992: 124094997
40 GSN NM_000177.4(GSN): c.*111_*116dupGTGTGT duplication Uncertain significance rs751044080 GRCh38 Chromosome 9, 121332714: 121332719
41 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs377469209 GRCh37 Chromosome 9, 124095017: 124095017
42 GSN NM_000177.4(GSN): c.*136dupT duplication Uncertain significance rs377469209 GRCh38 Chromosome 9, 121332739: 121332739
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.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh37 Chromosome 9, 124065224: 124065224
48 GSN NM_000177.4(GSN): c.385G> A (p.Ala129Thr) single nucleotide variant Benign rs2230287 GRCh38 Chromosome 9, 121302946: 121302946
49 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh37 Chromosome 9, 124072992: 124072992
50 GSN NM_000177.4(GSN): c.535G> A (p.Val179Met) single nucleotide variant Likely benign rs41305623 GRCh38 Chromosome 9, 121310714: 121310714

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
13.56 APP B2M CST3 FGA GSN IL31RA
2
Show member pathways
13.41 APOA1 APP B2M BACE1 CST3 FGA
3
Show member pathways
12.83 APOA1 APP B2M BACE1 CST3 FGA
4
Show member pathways
11.71 APP MEFV NLRP3
5
Show member pathways
11.69 APOA1 APOE SAA1 SAA2 SAA4
6
Show member pathways
11.65 APOA1 APOE SAA1
7 11.32 APP BACE1 TNFRSF1A
8 11.2 APOE APP BACE1
9 10.86 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 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.93 APOA1 APP B2M BACE1 FGA TNFRSF1A
2 early endosome GO:0005769 9.84 APOA1 APOE APP BACE1
3 receptor complex GO:0043235 9.83 APP IL31RA OSMR TNFRSF1A
4 endoplasmic reticulum lumen GO:0005788 9.8 APOA1 APOE APP B2M BACE1 CST3
5 blood microparticle GO:0072562 9.73 APOA1 APOE FGA GSN
6 tertiary granule lumen GO:1904724 9.69 B2M CST3 LYZ
7 extracellular vesicle GO:1903561 9.67 APOA1 APOE FGA
8 very-low-density lipoprotein particle GO:0034361 9.57 APOA1 APOE
9 low-density lipoprotein particle GO:0034362 9.56 APOA1 APOE
10 chylomicron GO:0042627 9.55 APOA1 APOE
11 endocytic vesicle lumen GO:0071682 9.54 APOA1 APOE SAA1
12 intermediate-density lipoprotein particle GO:0034363 9.48 APOA1 APOE
13 extracellular space GO:0005615 9.47 APOA1 APOE APP B2M CST3 FGA
14 discoidal high-density lipoprotein particle GO:0034365 9.4 APOA1 APOE
15 high-density lipoprotein particle GO:0034364 9.35 APOA1 APOE SAA1 SAA2 SAA4
16 extracellular exosome GO:0070062 10.1 APOA1 APOE APP B2M CST3 FGA
17 extracellular region GO:0005576 10 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 neutrophil degranulation GO:0043312 9.98 B2M CST3 GSN LYZ TTR
2 cytokine-mediated signaling pathway GO:0019221 9.94 IL31RA OSMR SAA1 TNFRSF1A
3 post-translational protein modification GO:0043687 9.85 APOA1 APOE APP CST3 FGA
4 platelet degranulation GO:0002576 9.83 APOA1 APP FGA
5 cell chemotaxis GO:0060326 9.8 SAA1 SAA2 SAA4
6 cholesterol metabolic process GO:0008203 9.79 APOA1 APOE APP
7 innate immune response GO:0045087 9.73 APP B2M FGA MEFV NLRP3 SAA1
8 retinoid metabolic process GO:0001523 9.67 APOA1 APOE TTR
9 defense response GO:0006952 9.67 CST3 IL31RA NLRP3 TNFRSF1A
10 reverse cholesterol transport GO:0043691 9.65 APOA1 APOE
11 high-density lipoprotein particle remodeling GO:0034375 9.65 APOA1 APOE
12 positive regulation of lipid biosynthetic process GO:0046889 9.65 APOA1 APOE
13 negative regulation of interleukin-1 beta secretion GO:0050713 9.63 APOA1 NLRP3
14 high-density lipoprotein particle assembly GO:0034380 9.63 APOA1 APOE
15 phospholipid efflux GO:0033700 9.61 APOA1 APOE
16 chylomicron assembly GO:0034378 9.61 APOA1 APOE
17 high-density lipoprotein particle clearance GO:0034384 9.6 APOA1 APOE
18 negative regulation of long-term synaptic potentiation GO:1900272 9.59 APOE APP
19 amyloid fibril formation GO:1990000 9.58 APP GSN
20 cellular response to manganese ion GO:0071287 9.57 APP BACE1
21 positive regulation of cholesterol esterification GO:0010873 9.56 APOA1 APOE
22 very-low-density lipoprotein particle remodeling GO:0034372 9.55 APOA1 APOE
23 chylomicron remodeling GO:0034371 9.54 APOA1 APOE
24 regulation of Cdc42 protein signal transduction GO:0032489 9.52 APOA1 APOE
25 regulation of cholesterol transport GO:0032374 9.51 APOA1 APOE
26 acute-phase response GO:0006953 9.5 SAA1 SAA2 SAA4
27 lipoprotein biosynthetic process GO:0042158 9.48 APOA1 APOE
28 positive chemotaxis GO:0050918 9.46 GPNMB SAA1 SAA2 SAA4
29 positive regulation of amyloid fibril formation GO:1905908 9.43 APOE APP
30 negative regulation of inflammatory response GO:0050728 9.43 APOA1 APOE MEFV NLRP3 SAA1 TNFRSF1A
31 regulation of tissue remodeling GO:0034103 9.4 CST3 GPNMB
32 cellular protein metabolic process GO:0044267 9.4 APOA1 APOE APP B2M BACE1 CST3
33 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 identical protein binding GO:0042802 9.65 APOA1 APOE APP B2M CST3 IAPP
2 heparin binding GO:0008201 9.56 APOE APP GPNMB SAA1
3 chemoattractant activity GO:0042056 9.46 GPNMB SAA1 SAA2 SAA4
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 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
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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