MCID: PLY019
MIFTS: 53

Polyneuropathy

Categories: Neuronal diseases
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Aliases & Classifications for Polyneuropathy

Summaries for Polyneuropathy

Disease Ontology: 11 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 are Guidance Cues and Growth Cone Motility and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Imipramine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, liver and brain, and related phenotypes are nervous system and homeostasis/metabolism

Wikipedia: 75 Polyneuropathy (poly- + neuro- + -pathy) is damage or disease affecting peripheral nerves (peripheral... more...

Related Diseases for Polyneuropathy

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 1433)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 33.2 TTR PRX GSN APOA1
2 chronic inflammatory demyelinating polyradiculoneuropathy 33.2 PMP22 MPZ MAG
3 amyloidosis, finnish type 32.8 TTR GSN APOA1
4 guillain-barre syndrome 32.8 PMP22 MPZ CD40LG
5 demyelinating polyneuropathy 32.7 TTR PMP22 MPZ MAG
6 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 32.7 PNPLA6 ABHD12
7 chronic polyneuropathy 32.5 PMP22 MAG
8 neuropathy, hereditary, with liability to pressure palsies 32.3 PRX PMP22 MPZ MAG GDAP1
9 diabetic neuropathy 32.2 PMP22 MPZ AKR1B1
10 charcot-marie-tooth disease, x-linked dominant, 1 32.0 PMP22 MPZ GDAP1
11 hypertrophic neuropathy of dejerine-sottas 31.9 PRX PMP22 MPZ MAG GDAP1
12 neuropathy 31.8 PRX PNPLA6 PMP22 MT-ATP6 MPZ GDAP1
13 charcot-marie-tooth disease, demyelinating, type 1b 31.8 PRX PMP22 MPZ GDAP1
14 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.7 PRX PMP22 MPZ GDAP1
15 hereditary amyloidosis 31.5 TTR GSN APOA1
16 carpal tunnel syndrome 31.4 TTR PMP22 MPZ
17 peripheral nervous system disease 31.3 TTR SPG7 PRX PNPLA6 PMP22 MT-ATP6
18 roussy-levy hereditary areflexic dystasia 31.3 PMP22 MPZ
19 immunoglobulin light chain amyloidosis 31.3 TTR GSN APOA1
20 sensory peripheral neuropathy 31.2 PRX PMP22 MPZ MAG GDAP1 AKR1B1
21 amyloid neuropathy 31.2 TTR GSN APOA1
22 hereditary neuropathies 31.1 PRX PMP22 MPZ MAG
23 mononeuropathy 31.1 TTR PMP22 MPZ MAG
24 tooth disease 31.0 PRX PMP22 MPZ GDAP1
25 neuritis 31.0 PMP22 MPZ MAG
26 neuromuscular disease 31.0 PRX PMP22 MPZ MAG GDAP1
27 wild-type amyloidosis 30.9 TTR GSN APOA1
28 motor peripheral neuropathy 30.9 SPG7 PMP22 MAG
29 charcot-marie-tooth disease 30.8 TTR SPG7 PRX PMP22 MT-ATP6 MPZ
30 charcot-marie-tooth disease, demyelinating, type 1a 30.8 PRX PMP22 MPZ MAG GDAP1
31 waldenstroem's macroglobulinemia 30.7 MAG CD59 CD40LG
32 nerve compression syndrome 30.7 TTR PMP22 MPZ GSN
33 wallerian degeneration 30.7 MPZ MAG
34 charcot-marie-tooth disease, type 4b1 30.6 PRX MPZ GDAP1
35 charcot-marie-tooth disease, type 4b2 30.6 PRX MPZ GDAP1
36 charcot-marie-tooth disease and deafness 30.6 PRX PMP22 MPZ MAG GDAP1
37 plexopathy 30.6 PMP22 MPZ MAG
38 autoimmune neuropathy 30.6 MPZ MAG
39 median neuropathy 30.5 TTR PMP22
40 optic nerve disease 30.4 SPG7 MT-ATP6 MAG GDAP1
41 autoimmune peripheral neuropathy 30.4 MPZ MAG
42 hereditary spastic paraplegia 30.3 SPG7 PNPLA6 MT-ATP6 MPZ MAG GDAP1
43 charcot-marie-tooth disease, dominant intermediate f 30.3 MPZ GDAP1
44 brachial plexus neuropathy 30.3 PMP22 MPZ
45 nervous system disease 30.3 TTR PMP22 MPZ MAG CD40LG APOA1
46 charcot-marie-tooth disease, dominant intermediate e 30.3 MPZ GDAP1
47 charcot-marie-tooth disease, axonal, type 2a1 30.3 MPZ GDAP1
48 charcot-marie-tooth disease, demyelinating, type 1f 30.3 PMP22 MPZ
49 charcot-marie-tooth disease, axonal, type 2e 30.3 SPG7 PRX PMP22 MPZ GDAP1
50 charcot-marie-tooth disease dominant intermediate a 30.3 PRX MPZ GDAP1

Graphical network of the top 20 diseases related to Polyneuropathy:



Diseases related to Polyneuropathy

Symptoms & Phenotypes for Polyneuropathy

UMLS symptoms related to Polyneuropathy:


neuralgia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.85 ABHD12 AKR1B1 APOA1 CD40LG CD59 DHH
2 no effect GR00402-S-2 9.85 ABHD12 APOA1 CD40LG CD59 DHH ERCC5

MGI Mouse Phenotypes related to Polyneuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 ABHD12 CD40LG CD59 DHH GDAP1 GSN
2 homeostasis/metabolism MP:0005376 9.47 ABHD12 AKR1B1 APOA1 CD40LG CD59 DHH

Drugs & Therapeutics for Polyneuropathy

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

(show top 50) (show all 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imipramine Approved Phase 4 50-49-7 3696
2
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
3
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
4
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
5
Nortriptyline Approved Phase 4 72-69-5 4543
6
Mexiletine Approved, Investigational Phase 4 5370-01-4, 31828-71-4 4178
7
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
8
Oxcarbazepine Approved Phase 4 28721-07-5 34312
9
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11
Lipoic acid Approved, Investigational, Nutraceutical Phase 4 1200-22-2 864 6112
12
Dexetimide Withdrawn Phase 4 21888-98-2 30843
13 Folate Phase 4
14 Vitamins Phase 4
15 Vitamin B9 Phase 4
16 Trace Elements Phase 4
17 Vasodilator Agents Phase 4
18 Vitamin B Complex Phase 4
19 Micronutrients Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Alpha-lipoic Acid Phase 4
22 Serotonin Uptake Inhibitors Phase 4
23 Nootropic Agents Phase 4
24
abobotulinumtoxinA Phase 4
25 Botulinum Toxins, Type A Phase 4
26 Botulinum Toxins Phase 4
27 Cholinergic Agents Phase 4
28 Antidepressive Agents, Tricyclic Phase 4
29 Respiratory System Agents Phase 4
30 Fibrinolytic Agents Phase 4
31 Bronchodilator Agents Phase 4
32 Anti-Asthmatic Agents Phase 4
33 Neuroprotective Agents Phase 4
34 Phosphodiesterase Inhibitors Phase 4
35 Phosphodiesterase 3 Inhibitors Phase 4
36 Platelet Aggregation Inhibitors Phase 4
37 Immunoglobulin G Phase 4
38 Sodium Channel Blockers Phase 4
39 Diuretics, Potassium Sparing Phase 4
40
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
41
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0 21873174 65157
42
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
43
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 5408 6013
44
Rituximab Approved Phase 3 174722-31-7
45
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
46
Mecobalamin Approved, Investigational Phase 3 13422-55-4
47
Oxybutynin Approved, Investigational Phase 3 5633-20-5 4634
48
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
49
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 11947679 6857599
50
Phenytoin Approved, Vet_approved Phase 2, Phase 3 57-41-0 1775

Interventional clinical trials:

(show top 50) (show all 238)
# 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 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
3 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
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 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
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 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS) Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
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 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
11 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
12 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
13 Randomized, Parallel Study of Subcutaneous Versus Intravenous Immunoglobulin in Treatment-naïve Patients With Chronic Inflammatory Demyelinating Polyneuropathy Recruiting NCT04589299 Phase 4
14 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
15 The Effect of Tafamidis on Transthyretin Stabilization, Safety, Tolerability and Efficacy in Transthyretin Amyloid Polyneuropathy Patients Recruiting NCT04963985 Phase 4 Tafamidis Pill
16 Randomized Study of Two Dose Levels of Privigen in Pediatric CIDP Recruiting NCT03684018 Phase 4
17 A SINGLE ARM, MULTICENTER, OPEN-LABEL STUDY TO EVALUATE THE EFFICACY, SAFETY, TOLERABILITY, AND PHARMACODYNAMICS OF ORALLY ADMINISTERED TAFAMIDIS MEGLUMINE IN TRANSTHYRETIN AMYLOID POLYNEUROPATHY PARTICIPANTS IN CHINA Active, not recruiting NCT04828993 Phase 4 tafamidis meglumine
18 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
19 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
20 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
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 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
23 Neuromuscular Electrical Stimulation for Intensive Care Unit-acquired Weakness Unknown status NCT02706587 Phase 3
24 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
25 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)
26 Multicenter, Double-blind, Placebo-controlled Randomized Clinical Trial of Efficacy and Safety of the Drug Cytoflavin®, Administered Intravenously Followed by Oral Intake, in Patients With Diabetic Polyneuropathy Completed NCT04649203 Phase 3 Cytoflavin (Inosine + Nicotinamide + Riboflavin + Succinic Acid);Placebo
27 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
28 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
29 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
30 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)
31 A Multicenter, Open-Label, Extension Study to Evaluate the Long-term Safety and Efficacy of Patisiran in Patients With Familial Amyloidotic Polyneuropathy Who Have Completed a Prior Patisiran Clinical Study Completed NCT02510261 Phase 3 Patisiran (ALN-TTR02)
32 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Intravenous Immune Globulin for Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT00004772 Phase 3 Immune globulin
33 Safety and Efficacy of AS-3201 in the Treatment of Diabetic Sensorimotor Polyneuropathy Completed NCT00101426 Phase 3 ranirestat, (AS-3201)
34 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
35 Double-blind Randomized Trial of Rituximab Versus Placebo in Polyneuropathy Associated With Anti-MAG IgM Monoclonal Gammopathy Completed NCT00259974 Phase 3 Rituximab
36 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)
37 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
38 Phase III Randomized, Double-Blind, Placebo-Controlled Study of 3,4-Diaminopyridine for Demyelinating Polyneuropathy Completed NCT00004939 Phase 3 ,4-diaminopyridine
39 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
40 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
41 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
42 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
43 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
44 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
45 NPB-01(Intravenous Immunoglobulin) Maintenance Therapy for Patients With Chronic Inflammatory Demyelinating Polyneuropathy. Completed NCT01824251 Phase 3 NPB-01
46 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
47 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
48 Muscarinic Receptor Antagonists as a Therapy for Diabetic Neuropathy Completed NCT03050827 Phase 3 3% oxybutynin;Placebo
49 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
50 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal

Search NIH Clinical Center for Polyneuropathy

Cochrane evidence based reviews: polyneuropathies

Genetic Tests for Polyneuropathy

Anatomical Context for Polyneuropathy

Organs/tissues related to Polyneuropathy:

MalaCards : Spinal Cord, Liver, Brain, Dorsal Root Ganglion, Bone Marrow, Breast, Kidney

Publications for Polyneuropathy

Articles related to Polyneuropathy:

(show top 50) (show all 14913)
# 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). 53 62
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. 53 62
20015874 2010
3
[Chronic inflammatory demyelinating polyneuropathy after treatment with pegylated interferon alpha 2b in a patient with HIV/HCV coinfection: case report]. 53 62
20305976 2010
4
[Anti-MAG paraproteinemic demyelinating polyneuropathy: a clinical, biological, electrophysiological and anatomopathological descriptive study of a 13-patients' cohort]. 53 62
19487003 2009
5
Neuromuscular disease presentation with three genetic defects involving two genomes. 53 62
19853445 2009
6
Chain reaction of amyloid fibril formation with induction of basement membrane in familial amyloidotic polyneuropathy. 53 62
19790249 2009
7
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 53 62
19701715 2009
8
Clusterin regulates transthyretin amyloidosis. 53 62
19664600 2009
9
Chronic inflammatory demyelinating polyneuropathy associated with metastatic malignant melanoma of unknown primary origin. 53 62
19266164 2009
10
Detection of anti-MAG antibodies in polyneuropathy associated with IgM monoclonal gammopathy. 53 62
19720975 2009
11
Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0). 53 62
19344920 2009
12
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. 53 62
19372189 2009
13
Immunoglobulin M deposition in cutaneous nerves of anti-myelin-associated glycoprotein polyneuropathy patients correlates with axonal degeneration. 53 62
19151627 2009
14
Transthyretin forms amyloid fibrils at physiological pH with ultrasonication. 53 62
19065294 2008
15
Formation of cytotoxic transthyretin is not dependent on inter-molecular disulphide bridges commonly found within the amyloid form. 53 62
19065295 2008
16
Targeting of myelin protein zero in a spontaneous autoimmune polyneuropathy. 53 62
19050296 2008
17
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. 53 62
18438698 2008
18
Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon alpha 2a therapy for chronic hepatitis C virus infection. 53 62
18186575 2008
19
[Diagnosis of familial amyloid polyneuropathy type I in Argentina]. 53 62
18786882 2008
20
Extracellular matrix markers for disease progression and follow-up of therapies in familial amyloid polyneuropathy V30M TTR-related. 53 62
18776590 2008
21
Transthyretin amyloid goiter in a renal allograft recipient. 53 62
18369743 2008
22
Unusual presentation of hereditary neuropathy with liability to pressure palsies. 53 62
18218131 2008
23
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 53 62
17940173 2007
24
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 53 62
17923639 2007
25
Retinol-binding protein 4 as a plasma biomarker of renal dysfunction and cardiovascular disease in type 2 diabetes. 53 62
17875187 2007
26
Impairment of the ubiquitin-proteasome system associated with extracellular transthyretin aggregates in familial amyloidotic polyneuropathy. 53 62
17724793 2007
27
Misfolded transthyretin causes behavioral changes in a Drosophila model for transthyretin-associated amyloidosis. 53 62
17714186 2007
28
Combined heart and liver transplantation for familial amyloidotic neuropathy. 53 62
17449267 2007
29
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 53 62
17565535 2007
30
DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy. 53 62
17487420 2007
31
Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. 53 62
17381508 2007
32
The search of the target of promotion: Phenylbenzoate esterase activities in hen peripheral nerve. 53 62
17207828 2007
33
Destabilization of transthyretin by pathogenic mutations in the DE loop. 53 62
17143887 2007
34
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement. 53 62
17142040 2007
35
Treatment of hepatitis C virus-associated inflammatory polyneuropathy with pegylated interferon-alpha and ribavirin. 53 62
17206084 2007
36
Rituximab treatment in patients with IVIg-dependent immune polyneuropathy: a prospective pilot trial. 53 62
16967492 2007
37
Do carbamates cause polyneuropathy? 53 62
16897762 2006
38
Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy. 53 62
16616847 2006
39
Activation of ERK1/2 MAP kinases in familial amyloidotic polyneuropathy. 53 62
16515552 2006
40
Current issues in organophosphate toxicology. 53 62
16337171 2006
41
Peripheral neuropathies in Waldenström's macroglobulinaemia. 53 62
16421127 2006
42
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. 53 62
16476939 2006
43
Chromium(III) ion and thyroxine cooperate to stabilize the transthyretin tetramer and suppress in vitro amyloid fibril formation. 53 62
16386248 2006
44
A Swedish family with the rare Phe33Leu transthyretin mutation. 53 62
16194875 2005
45
Effect of nitric oxide in amyloid fibril formation on transthyretin-related amyloidosis. 53 62
16101296 2005
46
Human transthyretin in complex with iododiflunisal: structural features associated with a potent amyloid inhibitor. 53 62
15689188 2005
47
Dimeric transthyretin variant assembles into spherical neurotoxins. 53 62
15736938 2005
48
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. 53 62
15710861 2005
49
Argpyrimidine, a methylglyoxal-derived advanced glycation end-product in familial amyloidotic polyneuropathy. 53 62
15281912 2005
50
Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins. 53 62
15485482 2004

Variations for Polyneuropathy

ClinVar genetic disease variations for Polyneuropathy:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPG7 NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) SNV Pathogenic
689557 rs1597597437 GRCh37: 16:89574912-89574912
GRCh38: 16:89508504-89508504
2 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic
4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
3 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs) MICROSAT Likely Pathogenic
373982 rs1057518813 GRCh37: 13:103525655-103525656
GRCh38: 13:102873305-102873306
4 SMC1A NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) SNV Uncertain Significance
373969 rs781817923 GRCh37: X:53410167-53410167
GRCh38: X:53383246-53383246
5 POLG NM_002693.3(POLG):c.2982G>C (p.Trp994Cys) SNV Uncertain Significance
689545 rs1596350885 GRCh37: 15:89862581-89862581
GRCh38: 15:89319350-89319350
6 DYNC1H1 NM_001376.5(DYNC1H1):c.2539-10C>A SNV Uncertain Significance
689550 rs1372571783 GRCh37: 14:102453780-102453780
GRCh38: 14:101987443-101987443
7 REEP1 NM_001371279.1(REEP1):c.789G>A (p.Pro263=) SNV Uncertain Significance
694650 rs1373170665 GRCh37: 2:86444228-86444228
GRCh38: 2:86217105-86217105
8 CCNF NM_001761.3(CCNF):c.290A>G (p.Lys97Arg) SNV Uncertain Significance
982987 rs1465313712 GRCh37: 16:2485818-2485818
GRCh38: 16:2435817-2435817
9 GBE1 NM_000158.4(GBE1):c.2102C>T (p.Pro701Leu) SNV Uncertain Significance
1343403 GRCh37: 3:81539565-81539565
GRCh38: 3:81490414-81490414
10 MED25 NM_030973.4(MED25):c.1086C>T (p.Pro362=) SNV Uncertain Significance
689543 rs780086993 GRCh37: 19:50334129-50334129
GRCh38: 19:49830872-49830872
11 MED25 NM_030973.4(MED25):c.305+14C>G SNV Uncertain Significance
689579 rs773627830 GRCh37: 19:50322567-50322567
GRCh38: 19:49819310-49819310
12 GBA2 NM_020944.3(GBA2):c.1807T>A (p.Trp603Arg) SNV Uncertain Significance
973831 rs1826437611 GRCh37: 9:35738889-35738889
GRCh38: 9:35738892-35738892
13 GBA2 NM_020944.3(GBA2):c.1444A>C (p.Asn482His) SNV Uncertain Significance
973832 rs1826525053 GRCh37: 9:35739763-35739763
GRCh38: 9:35739766-35739766
14 GNB4 NM_021629.4(GNB4):c.97-11_97-7del DEL Uncertain Significance
1708297 GRCh37: 3:179137300-179137304
GRCh38: 3:179419512-179419516
15 TGM6 NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) SNV Uncertain Significance
437001 rs201338900 GRCh37: 20:2380225-2380225
GRCh38: 20:2399579-2399579
16 LMNA NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) SNV Uncertain Significance
689547 rs1166140426 GRCh37: 1:156106117-156106117
GRCh38: 1:156136326-156136326
17 MED25 NM_030973.4(MED25):c.2088G>A (p.Leu696=) SNV Uncertain Significance
221058 rs371157406 GRCh37: 19:50339605-50339605
GRCh38: 19:49836348-49836348

Expression for Polyneuropathy

Search GEO for disease gene expression data for Polyneuropathy.

Pathways for Polyneuropathy

Pathways related to Polyneuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.4 MAG GSN GDAP1
2 10.56 PMP22 MPZ GDAP1
3 10.37 PRX PMP22 MPZ MAG

GO Terms for Polyneuropathy

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

# Name GO ID Score Top Affiliating Genes
1 compact myelin GO:0043218 8.92 PMP22 MAG

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

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 9.1 PMP22 MPZ MAG DHH
2 nucleic acid metabolic process GO:0090304 8.96 ERCC5 BIVM-ERCC5

Sources for Polyneuropathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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