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MCID: PLY019
MIFTS: 52

Polyneuropathy

Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Polyneuropathy

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MalaCards integrated aliases for Polyneuropathy:

Name: Polyneuropathy 12 54 6 15 17 71
Polyneuropathies 44

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1389
MeSH 44 D011115
NCIt 50 C26951
SNOMED-CT 67 193166009
UMLS 71 C0152025
Sources

Summaries for Polyneuropathy

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Disease Ontology : 12 A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.

MalaCards based summary : Polyneuropathy, also known as polyneuropathies, is related to amyloidosis, hereditary, transthyretin-related and chronic inflammatory demyelinating polyradiculoneuropathy, and has symptoms including neuralgia An important gene associated with Polyneuropathy is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways is Guidance Cues and Growth Cone Motility. The drugs Imipramine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and kidney, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia : 74 Polyneuropathy (poly- + neuro- + -pathy) is damage or disease affecting peripheral nerves (peripheral... more...

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Related Diseases for Polyneuropathy

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Diseases in the Polyneuropathy family:

Polyneuropathy Due to Drug Chronic Polyneuropathy

Diseases related to Polyneuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1193)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 33.3 TTR GSN APOA1
2 chronic inflammatory demyelinating polyradiculoneuropathy 33.2 PMP22 MPZ CD59
3 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 32.9 PNPLA6 ABHD12
4 demyelinating polyneuropathy 32.7 TTR PMP22 MAG
5 diabetic neuropathy 32.4 PMP22 MPZ AKR1B1
6 neuropathy, hereditary, with liability to pressure palsies 32.2 PRX PMP22 MPZ MAG GDAP1
7 hypertrophic neuropathy of dejerine-sottas 31.6 PRX PMP22 MPZ MAG GDAP1
8 hereditary amyloidosis 31.5 TTR GSN APOA1
9 charcot-marie-tooth disease, demyelinating, type 1b 31.5 PRX PMP22 MPZ GDAP1
10 carpal tunnel syndrome 31.4 TTR PMP22 MPZ
11 charcot-marie-tooth disease 31.4 TTR PRX POLG PMP22 MT-ATP6 MPZ
12 amyloid neuropathy 31.2 TTR GSN APOA1
13 axonal neuropathy 31.2 POLG PMP22 GDAP1
14 hereditary neuropathies 31.1 PRX PMP22 MPZ MAG
15 mononeuropathy 31.1 TTR PMP22 MPZ MAG
16 foot drop 31.0 PMP22 MPZ
17 neuritis 30.9 PMP22 MPZ MAG
18 sensory peripheral neuropathy 30.9 PRX PMP22 MPZ MAG GDAP1 AKR1B1
19 demyelinating disease 30.9 PMP22 MPZ MAG CD40LG
20 tooth disease 30.7 TTR PRX PMP22 MT-ATP6 MPZ GDAP1
21 autoimmune neuropathy 30.6 MPZ MAG
22 neuropathy 30.6 TTR SPG7 PRX POLG PNPLA6 PMP22
23 wallerian degeneration 30.6 MPZ MAG
24 amyloidosis aa 30.6 TTR APOA1
25 kearns-sayre syndrome 30.5 SPG7 POLG MT-ATP6 MAG
26 median neuropathy 30.5 TTR PMP22
27 neuromuscular disease 30.5 PRX PMP22 MPZ MAG GDAP1
28 charcot-marie-tooth disease, demyelinating, type 1a 30.4 PRX PMP22 MPZ MAG GDAP1
29 autoimmune peripheral neuropathy 30.4 MPZ MAG
30 charcot-marie-tooth disease, type 4b1 30.4 PRX MPZ GDAP1
31 charcot-marie-tooth disease, type 4b2 30.4 PRX MPZ GDAP1
32 nerve compression syndrome 30.4 TTR PMP22 MPZ GSN
33 amyotrophic neuralgia 30.3 PMP22 MPZ
34 roussy-levy hereditary areflexic dystasia 30.2 PMP22 MPZ
35 autonomic peripheral neuropathy 30.1 TTR GSN
36 charcot-marie-tooth disease, axonal, type 2d 30.1 PMP22 MPZ GDAP1
37 charcot-marie-tooth disease, dominant intermediate e 30.1 MPZ GDAP1
38 charcot-marie-tooth disease, axonal, type 2a1 30.1 MPZ GDAP1
39 motor peripheral neuropathy 30.1 TTR SPG7 POLG PMP22 MAG
40 multiple sclerosis 30.1 POLG MPZ MAG CD40LG APOA1
41 amyloidosis, familial visceral 30.1 TTR GSN APOA1
42 charcot-marie-tooth disease, axonal, type 2l 30.1 MPZ GDAP1
43 waldenstroem's macroglobulinemia 30.0 MAG CD59 CD40LG
44 charcot-marie-tooth disease, dominant intermediate a 30.0 PRX MPZ GDAP1
45 charcot-marie-tooth disease, axonal, type 2j 30.0 PRX MPZ GDAP1
46 charcot-marie-tooth disease, demyelinating, type 4f 30.0 PRX MPZ GDAP1
47 charcot-marie-tooth disease, type 4h 30.0 PRX MPZ GDAP1
48 charcot-marie-tooth disease, dominant intermediate c 30.0 MPZ GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1d 30.0 GDAP1 PRX PMP22 MPZ
50 charcot-marie-tooth disease, x-linked dominant, 1 30.0 PRX PMP22 MPZ GDAP1

Graphical network of the top 20 diseases related to Polyneuropathy:



Diseases related to Polyneuropathy
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Symptoms & Phenotypes for Polyneuropathy

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UMLS symptoms related to Polyneuropathy:


neuralgia

MGI Mouse Phenotypes related to Polyneuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.83 ABHD12 AKR1B1 APOA1 CD40LG CD59 DMXL2
2 nervous system MP:0003631 9.44 ABHD12 CD40LG DMXL2 GDAP1 GSN MAG
Sources

Drugs & Therapeutics for Polyneuropathy

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

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imipramine Approved Phase 4 50-49-7 3696
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Levetiracetam Approved Phase 4 102767-28-2 441341
4
Oxcarbazepine Approved Phase 4 28721-07-5 34312
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
7
Nortriptyline Approved Phase 4 72-69-5 4543
8
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
9
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
10 Serotonin Uptake Inhibitors Phase 4
11 Antidepressive Agents, Tricyclic Phase 4
12 Respiratory System Agents Phase 4
13 Protective Agents Phase 4
14 Antioxidants Phase 4
15 Alpha-lipoic Acid Phase 4
16 Thioctic Acid Phase 4
17 Anti-Asthmatic Agents Phase 4
18 Phosphodiesterase Inhibitors Phase 4
19 Fibrinolytic Agents Phase 4
20 Neuroprotective Agents Phase 4
21 Phosphodiesterase 3 Inhibitors Phase 4
22 Platelet Aggregation Inhibitors Phase 4
23 Bronchodilator Agents Phase 4
24 Cholinergic Agents Phase 4
25 abobotulinumtoxinA Phase 4
26 Botulinum Toxins Phase 4
27 Botulinum Toxins, Type A Phase 4
28 Sodium Channel Blockers Phase 4
29 Diuretics, Potassium Sparing Phase 4
30
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0
31
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
32
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 6013
33
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
34
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
35
Oxybutynin Approved, Investigational Phase 3 5633-20-5 4634
36
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
37
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
38
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
39
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
40
Phenytoin Approved, Vet_approved Phase 2, Phase 3 57-41-0 1775
41
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
42
Oxycodone Approved, Illicit, Investigational Phase 3 76-42-6 5284603
43
Tapentadol Approved Phase 3 175591-23-8 9838022
44
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
45
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6, 59-43-8 1130
46
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
47
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
48
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
49 Ranirestat Investigational Phase 2, Phase 3 147254-64-6
50
Cobalamin Experimental Phase 3 13408-78-1 6857388

Interventional clinical trials:

(show top 50) (show all 204)
# Name Status NCT ID Phase Drugs
1 Randomised, Double-blind, Placebo-controlled Trial of the Effect of the Combination of Imipramine and Pregabalin for the Treatment of Painful Polyneuropathy Unknown status NCT01047488 Phase 4 Imipramine;Pregabalin;Imipramine, pregabalin;Placebo
2 Effects of Pregabalin on Mechanical Hyperalgesia - EPOM Unknown status NCT00310583 Phase 4 Pregabalin
3 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
4 Evaluation of the Impact of Subject and Staff Training on the Pregabalin vs. Placebo Difference in Subjects With Painful Diabetic Neuropathy (PDN) Unknown status NCT01770964 Phase 4 Pregabalin;placebo
5 Treatment With Gamunex 10% Intravenous Immunoglobulin (IVIg) for Patients With Demyelination and Diabetes Mellitus: A Blinded, Placebo-Controlled Crossover Pilot Study Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
6 Escitalopram as a Treatment for Pain in Polyneuropathy. A Double-Blind, Randomized, Placebo Controlled Trial. Completed NCT00162968 Phase 4 escitalopram
7 Double-blind, Randomised, Placebo-controlled Trial of the Effect of Levetiracetam on Painful Polyneuropathy Completed NCT00286260 Phase 4 levetiracetam
8 Oxcarbazepine for the Treatment of Chronic Peripheral Neuropathic Pain: Predictors of Response - a Randomised, Double-blind, Placebo-controlled Clinical Trial Completed NCT01302275 Phase 4 Oxcarbazepine
9 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
10 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS) Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
11 Qutenza Versus Pregabalin in Subjects With Peripheral Neuropathic Pain: an Open-label, Randomized, Multicenter, Non-inferiority Efficacy and Tolerability Study Completed NCT01713426 Phase 4 Qutenza;Pregabalin
12 Treatment With Alpha-lipoic Acid Over 16 Weeks in Type 2 Diabetic Patients With Symptomatic Polyneuropathy Who Responded to Initial 4-week High-dose Loading Completed NCT02439879 Phase 4 Alpha lipoic acid
13 Randomized Double Blind Placebo Controlled Multicenter Study of the Efficacy and Safety of Repeated Administrations of Botulinum Toxin Type A (Botox) in the Treatment of Peripheral Neuropathic Pain Completed NCT01251211 Phase 4 botulinum toxin type A
14 Randomized, Parallel Study of Subcutaneous Versus Intravenous Immunoglobulin in Treatment-naïve Patients With Chronic Inflammatory Demyelinating Polyneuropathy Recruiting NCT04589299 Phase 4
15 Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP Recruiting NCT03684018 Phase 4
16 A Phase 4 Safety Study Assessing the Adverse Events Occurring Within One Day of TEGSEDI Administration in Patients With Polyneuropathy of Hereditary Transthyretin-mediated Amyloidosis (hATTR-PN) Recruiting NCT04306510 Phase 4
17 A Double-blind, Placebo-controlled, Cross-over Study of Ranolazine in Patients With Coronary Artery Disease for the Treatment of Painful Polyneuropathy Terminated NCT00832572 Phase 4 Ranolazine;Placebo
18 Efficacy, Safety, Tolerability and Pharmacokinetics of Concomitant Administration of Tramadol With Duloxetine or Pregabalin: a Randomized Controlled Flexible-dose Study in Patients With Neuropathic Pain Withdrawn NCT01116531 Phase 4 Tramadol;Duloxetine;Pregabalin
19 Pilot Randomized, Controlled Trial of Testosterone Therapy in Chronic Critically Ill Patients and Its Potential Effects on Weaning From Mechanical Ventilation and Intensive Care Unit-acquired Weakness Unknown status NCT03038919 Phase 2, Phase 3 Testosterone cypionate
20 Neuromuscular Electrical Stimulation for Intensive Care Unit-acquired Weakness Unknown status NCT02706587 Phase 3
21 Prospective, Open-Label, Phase IIIb Study Evaluating the Safety, Tolerability and Efficacy of Panzyga® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy Administered at Standard and High Infusion Rates Unknown status NCT03166527 Phase 3 Immune Globulin 10% Intravenous Solution
22 Effects of Benfotiamine on Intraepidermal Nerve Fiber Density (IENFD)and Diabetic Neuropathy in Subjects With Sensorimotor Diabetic Polyneuropathy: a Double-blind, Randomized, Placebo-controlled Parallel Group Pilot Study Over 12 Months. Unknown status NCT01868191 Phase 3 Benfotiamine;Placebo for benfotiamine
23 Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multicenter Study to Evaluate the Efficacy and Safety of Thioctacid Oral Tablet 600mg Once Daily in Chinese Diabetic Patients With Distal Symmetric Polyneuropathy Unknown status NCT01224353 Phase 2, Phase 3 lipoic acid
24 Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-blind, Placebo-controlled Study Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
25 An Open-Label Extension Of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3 Fx-1006A
26 APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Patisiran (ALN-TTR02) in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP) Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
27 A Multi-centre, Double-blind, Placebo-controlled, Randomised, Parallel Group Clinical Trial to Evaluate Efficacy and Safety of Actovegin® in Diabetic Type 2 Patients With Symptomatic Diabetic Peripheral Polyneuropathy Completed NCT00483730 Phase 3 Deproteinised hemoderivative of calf blood (Actovegin)
28 Multicentre Randomized Open-label Trial to Compare Efficacy and Tolerance of Corticosteroids and IVIg in Patients With Chronic Inflammatory Demyelinating Polyneuropathy on a One Year Follow up Completed NCT01349270 Phase 3 Immunoglobulin perfusion;Prednisone
29 Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of IgPro20 in Maintenance Treatment of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) in Subjects Completing Study IgPro20_3003 Completed NCT02027701 Phase 3
30 Double-blind Randomized Trial of Rituximab Versus Placebo in Polyneuropathy Associated With Anti-MAG IgM Monoclonal Gammopathy Completed NCT00259974 Phase 3 Rituximab
31 The Effect On Transthyretin Stabilization, Safety, Tolerablity, Efficacy And Pharmacokinetics Of Orally Administered Tafamidis In Transthyretin Amyloid Polyneuropathy Patients With V30m Or Non-v30m Transthyretin: A Phase Iii, Open-label Study Completed NCT01435655 Phase 3 tafamidis
32 A Single-arm Study to Demonstrate the Efficacy and Safety of Privigen in the Treatment of Subjects With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Completed NCT01184846 Phase 3
33 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
34 Phase 2 Study for Infrared Thermometry Used by Diabetic Patients at Home Completed NCT00289497 Phase 2, Phase 3
35 Assessment of Efficacy and Safety of Thioctic Acid in the Oral Treatment of Symptomatic Diabetic Neuropathy (SYDNEY 2) Randomised, Double-Blind,Placebo-Controlled Multicentre Trial With 4 Parallel Groups Completed NCT00328601 Phase 3 Thioctic Acid
36 NPB-01(Intravenous Immunoglobulin) Maintenance Therapy for Patients With Chronic Inflammatory Demyelinating Polyneuropathy. Completed NCT01824251 Phase 3 NPB-01
37 Randomized, Multicenter, Double-blind, Placebo-controlled, Parallel-group Phase III Study to Investigate the Efficacy, Safety, and Tolerability of 2 Different Doses of IgPro20 (Subcutaneous Immunoglobulin) for the Treatment of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - the PATH Study Completed NCT01545076 Phase 3
38 A Randomized, Crossover, Double Blinded, Placebo Controlled Trial of Topical Capsaicin in Treatment of Painful Diabetic Neuropathy Completed NCT00993070 Phase 2, Phase 3 Capsaicin;placebo
39 Muscarinic Receptor Antagonists as a Therapy for Diabetic Neuropathy Completed NCT03050827 Phase 3 3% oxybutynin;Placebo
40 Assessment of Efficacy and Safety of Thioctic Acid in the Oral Treatment of Diabetic Polyneuropathy (Stage 1 or 2) NATHAN1 A Randomized, Placebo-controlled, Double-blind Multi-centre Trial With 2 Parallel Groups Completed NCT00977483 Phase 3 Thioctic Acid;Placebo
41 A 2-year, Randomized, Double-blind, Placebo-controlled, Multi-center, Phase II-III Study to Evaluate the Efficacy and Safety of Oral Ranirestat (40 and 80 mg) in Mild to Moderate Diabetic Sensorimotor Polyneuropathy Completed NCT00927914 Phase 2, Phase 3 Ranirestat;Placebo
42 Multicenter, Randomized, Double-blind, Placebo-controlled, Study to Evaluate the Efficacy and Safety of IGIV-Chromatography (IGIV-C), 10% Treatment in Subjects With Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT00220740 Phase 3 Immune Globulin IV (Human), 10% Caprylate/Chromatography Purified;Albumin (Human) 25%, United States Pharmacopeia (USP)
43 A Randomized, Double-Blind, Controlled Dose Finding Study of NGX-4010 for the Treatment of Painful HIV-Associated Distal Symmetrical Polyneuropathy Completed NCT00064623 Phase 3 Capsaicin Dermal Patch
44 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Intravenous Immune Globulin for Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT00004772 Phase 3 Immune globulin
45 Neuropathic Pain Treatment Using F0434 vs. Gabapentin in Patients With Chronic Distal Diabetic Polyneuropathy: A Randomized, Controlled, Double-blind Study Completed NCT01263132 Phase 3 F0434;Gabapentin
46 Phase III Randomized, Double-Blind, Placebo-Controlled Study of 3,4-Diaminopyridine for Demyelinating Polyneuropathy Completed NCT00004939 Phase 3 ,4-diaminopyridine
47 A Phase 2/3 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (NEURO-TTR Study) Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
48 An Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (FAP) Completed NCT02175004 Phase 3 IONIS-TTR Rx
49 Safety and Efficacy of AS-3201 in the Treatment of Diabetic Sensorimotor Polyneuropathy Completed NCT00101426 Phase 3 ranirestat, (AS-3201)
50 Dietetic and Hygiene Measures in Metabolic Neuropathies: the Neurodiet Study Completed NCT01465620 Phase 3

Search NIH Clinical Center for Polyneuropathy

Cochrane evidence based reviews: polyneuropathies

Sources

Genetic Tests for Polyneuropathy

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Sources

Anatomical Context for Polyneuropathy

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MalaCards organs/tissues related to Polyneuropathy:

40
Skin, Spinal Cord, Kidney, Liver, Endothelial, Bone Marrow, Pancreas
Sources

Publications for Polyneuropathy

About this section

Articles related to Polyneuropathy:

(show top 50) (show all 14490)
# Title Authors PMID Year
1
An alternative in vitro method for detecting neuropathic compounds based on acetylcholinesterase inhibition and on inhibition and aging of neuropathy target esterase (NTE). 61 54
20097283 2010
2
Myelin protein zero is naturally processed in the B cells of monoclonal gammopathy of undetermined significance of immunoglobulin M isotype: aberrant triggering of a patient's T cells. 54 61
20015874 2010
3
[Chronic inflammatory demyelinating polyneuropathy after treatment with pegylated interferon alpha 2b in a patient with HIV/HCV coinfection: case report]. 61 54
20305976 2010
4
[Anti-MAG paraproteinemic demyelinating polyneuropathy: a clinical, biological, electrophysiological and anatomopathological descriptive study of a 13-patients' cohort]. 54 61
19487003 2009
5
Neuromuscular disease presentation with three genetic defects involving two genomes. 54 61
19853445 2009
6
Chain reaction of amyloid fibril formation with induction of basement membrane in familial amyloidotic polyneuropathy. 61 54
19790249 2009
7
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 61 54
19701715 2009
8
Clusterin regulates transthyretin amyloidosis. 54 61
19664600 2009
9
Detection of anti-MAG antibodies in polyneuropathy associated with IgM monoclonal gammopathy. 61 54
19720975 2009
10
Chronic inflammatory demyelinating polyneuropathy associated with metastatic malignant melanoma of unknown primary origin. 61 54
19266164 2009
11
Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0). 54 61
19344920 2009
12
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. 54 61
19372189 2009
13
Immunoglobulin M deposition in cutaneous nerves of anti-myelin-associated glycoprotein polyneuropathy patients correlates with axonal degeneration. 61 54
19151627 2009
14
Targeting of myelin protein zero in a spontaneous autoimmune polyneuropathy. 61 54
19050296 2008
15
Transthyretin forms amyloid fibrils at physiological pH with ultrasonication. 54 61
19065294 2008
16
Formation of cytotoxic transthyretin is not dependent on inter-molecular disulphide bridges commonly found within the amyloid form. 54 61
19065295 2008
17
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. 54 61
19062535 2008
18
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. 61 54
18438698 2008
19
Transthyretin amyloid goiter in a renal allograft recipient. 61 54
18369743 2008
20
Unusual presentation of hereditary neuropathy with liability to pressure palsies. 61 54
18218131 2008
21
Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon alpha 2a therapy for chronic hepatitis C virus infection. 61 54
18186575 2008
22
[Diagnosis of familial amyloid polyneuropathy type I in Argentina]. 54 61
18786882 2008
23
Extracellular matrix markers for disease progression and follow-up of therapies in familial amyloid polyneuropathy V30M TTR-related. 61 54
18776590 2008
24
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 61 54
17940173 2007
25
Retinol-binding protein 4 as a plasma biomarker of renal dysfunction and cardiovascular disease in type 2 diabetes. 61 54
17875187 2007
26
Impairment of the ubiquitin-proteasome system associated with extracellular transthyretin aggregates in familial amyloidotic polyneuropathy. 54 61
17724793 2007
27
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 61 54
17923639 2007
28
Misfolded transthyretin causes behavioral changes in a Drosophila model for transthyretin-associated amyloidosis. 61 54
17714186 2007
29
Combined heart and liver transplantation for familial amyloidotic neuropathy. 61 54
17449267 2007
30
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 54 61
17565535 2007
31
DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy. 61 54
17487420 2007
32
Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. 61 54
17381508 2007
33
The search of the target of promotion: Phenylbenzoate esterase activities in hen peripheral nerve. 61 54
17207828 2007
34
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement. 61 54
17142040 2007
35
Destabilization of transthyretin by pathogenic mutations in the DE loop. 54 61
17143887 2007
36
Treatment of hepatitis C virus-associated inflammatory polyneuropathy with pegylated interferon-alpha and ribavirin. 61 54
17206084 2007
37
Rituximab treatment in patients with IVIg-dependent immune polyneuropathy: a prospective pilot trial. 61 54
16967492 2007
38
Do carbamates cause polyneuropathy? 54 61
16897762 2006
39
Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy. 61 54
16616847 2006
40
Current issues in organophosphate toxicology. 61 54
16337171 2006
41
Activation of ERK1/2 MAP kinases in familial amyloidotic polyneuropathy. 54 61
16515552 2006
42
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. 54 61
16476939 2006
43
Peripheral neuropathies in Waldenström's macroglobulinaemia. 54 61
16421127 2006
44
Chromium(III) ion and thyroxine cooperate to stabilize the transthyretin tetramer and suppress in vitro amyloid fibril formation. 54 61
16386248 2006
45
A Swedish family with the rare Phe33Leu transthyretin mutation. 54 61
16194875 2005
46
Effect of nitric oxide in amyloid fibril formation on transthyretin-related amyloidosis. 61 54
16101296 2005
47
Human transthyretin in complex with iododiflunisal: structural features associated with a potent amyloid inhibitor. 61 54
15689188 2005
48
Dimeric transthyretin variant assembles into spherical neurotoxins. 54 61
15736938 2005
49
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. 61 54
15710861 2005
50
Differential diagnosis of chronic dysimmune demyelinating polyneuropathies with and without anti-MAG antibodies. 61 54
15536620 2005
Sources

Variations for Polyneuropathy

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ClinVar genetic disease variations for Polyneuropathy:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG7 NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) SNV Pathogenic 689557 rs1597597437 16:89574912-89574912 16:89508504-89508504
2 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005
3 BIVM-ERCC5 NM_000123.3(ERCC5):c.2927_2928CT[1] (p.Leu977fs) Microsatellite Likely pathogenic 373982 rs1057518813 13:103525655-103525656 13:102873305-102873306
4 SMC1A NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) SNV Uncertain significance 373969 rs781817923 X:53410167-53410167 X:53383246-53383246
5 MED25 NM_030973.3(MED25):c.1086C>T (p.Pro362=) SNV Uncertain significance 689543 rs780086993 19:50334129-50334129 19:49830872-49830872
6 POLG NM_002693.2(POLG):c.2982G>C (p.Trp994Cys) SNV Uncertain significance 689545 rs1596350885 15:89862581-89862581 15:89319350-89319350
7 LMNA NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) SNV Uncertain significance 689547 rs1166140426 1:156106117-156106117 1:156136326-156136326
8 DYNC1H1 NM_001376.5(DYNC1H1):c.2539-10C>A SNV Uncertain significance 689550 rs1372571783 14:102453780-102453780 14:101987443-101987443
9 MED25 NM_030973.3(MED25):c.305+14C>G SNV Uncertain significance 689579 rs773627830 19:50322567-50322567 19:49819310-49819310
10 TGM6 NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) SNV Uncertain significance 437001 rs201338900 20:2380225-2380225 20:2399579-2399579
11 REEP1 NM_001371279.1(REEP1):c.789G>A (p.Pro263=) SNV Uncertain significance 694650 rs1373170665 2:86444228-86444228 2:86217105-86217105
12 GBA2 NM_020944.3(GBA2):c.1807T>A (p.Trp603Arg) SNV Uncertain significance 973831 9:35738889-35738889 9:35738892-35738892
13 GBA2 NM_020944.3(GBA2):c.1444A>C (p.Asn482His) SNV Uncertain significance 973832 9:35739763-35739763 9:35739766-35739766
14 CCNF NM_001761.3(CCNF):c.290A>G (p.Lys97Arg) SNV Uncertain significance 982987 16:2485818-2485818 16:2435817-2435817
15 MED25 NM_030973.3(MED25):c.2088G>A (p.Leu696=) SNV Uncertain significance 221058 rs371157406 19:50339605-50339605 19:49836348-49836348
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Expression for Polyneuropathy

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Search GEO for disease gene expression data for Polyneuropathy.
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Pathways for Polyneuropathy

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Pathways related to Polyneuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Guidance Cues and Growth Cone Motility 63
10.87 MAG GSN GDAP1
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GO Terms for Polyneuropathy

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 9.33 PDXK GSN APOA1
2 Schmidt-Lanterman incisure GO:0043220 8.96 MAG AKR1B1
3 myelin sheath GO:0043209 8.8 MPZ MAG GSN

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine metabolic process GO:0046470 9.32 PNPLA6 APOA1
2 mitochondrial fusion GO:0008053 9.26 SPG7 GDAP1
3 response to hyperoxia GO:0055093 9.16 POLG MT-ATP6
4 glycerophospholipid catabolic process GO:0046475 8.96 PNPLA6 ABHD12
5 retinoid metabolic process GO:0001523 8.8 TTR APOA1 AKR1B1
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Sources for Polyneuropathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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