Aliases & Classifications for Polyneuropathy

Summaries for Polyneuropathy

Disease Ontology : 12 A peripheral system disease that is characterized by is 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 demyelinating polyneuropathy, 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 Cell adhesion molecules (CAMs) and Guidance Cues and Growth Cone Motility. The drugs Imipramine and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and skin, and related phenotypes are no effect 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 1173)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 34.3 TTR GSN APOA1
2 demyelinating polyneuropathy 34.2 TTR PMP22 MAG
3 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 34.1 PNPLA6 MBP ABHD12
4 amyloidosis, finnish type 34.0 TTR GSN
5 guillain-barre syndrome 33.7 PMP22 MPZ MBP
6 neuropathy, hereditary, with liability to pressure palsies 33.6 PMP22 MPZ GDAP1
7 charcot-marie-tooth disease, demyelinating, type 1b 33.3 PMP22 MPZ
8 chronic inflammatory demyelinating polyradiculoneuropathy 32.5 PMP22 MPZ
9 polyradiculoneuropathy 32.2 PMP22 MPZ MBP MAG
10 hypertrophic neuropathy of dejerine-sottas 32.2 PRX PMP22 MPZ GDAP1
11 amyloidosis 32.0 TTR GSN APOA1
12 roussy-levy hereditary areflexic dystasia 31.7 PMP22 MPZ
13 charcot-marie-tooth disease, demyelinating, type 1a 31.5 PMP22 MPZ GDAP1
14 motor peripheral neuropathy 31.3 PMP22 MPZ
15 foot drop 31.2 PMP22 MPZ
16 hereditary amyloidosis 31.2 TTR GSN APOA1
17 charcot-marie-tooth disease, demyelinating, type 1f 31.1 PMP22 MPZ
18 charcot-marie-tooth disease, axonal, type 2d 31.0 PMP22 MPZ
19 charcot-marie-tooth disease, demyelinating, type 1c 31.0 PMP22 MPZ
20 charcot-marie-tooth disease, x-linked dominant, 1 31.0 PMP22 MPZ
21 neuropathy 30.9 PRX PNPLA6 PMP22 MT-ATP6 MPZ GDAP1
22 kearns-sayre syndrome 30.9 TUBB3 MT-ATP6 MAG
23 charcot-marie-tooth disease, type 4b2 30.7 PRX GDAP1
24 charcot-marie-tooth disease, axonal, type 2b 30.7 PMP22 MPZ
25 amyloidosis aa 30.7 TTR APOA1
26 charcot-marie-tooth disease, type 4b1 30.5 PRX GDAP1
27 facial paralysis 30.5 TUBB3 GSN
28 charcot-marie-tooth disease, type 4a 30.5 TUBB3 PRX GDAP1
29 charcot-marie-tooth disease and deafness 30.5 PMP22 MPZ GDAP1
30 neuritis 30.4 PMP22 MPZ MBP MAG
31 demyelinating disease 30.3 MBP MAG CD40LG
32 optic neuritis 30.3 MPZ MBP MAG
33 charcot-marie-tooth disease, axonal, type 2e 30.3 PMP22 MPZ GDAP1
34 tooth disease 30.2 PRX PMP22 MPZ GDAP1
35 charcot-marie-tooth disease, demyelinating, type 4f 30.2 PRX GDAP1
36 charcot-marie-tooth hereditary neuropathy 30.1 PMP22 MT-ATP6 MPZ
37 nervous system disease 30.1 TUBB3 TTR MBP
38 amyloidosis, familial visceral 30.1 TTR GSN APOA1
39 sensory peripheral neuropathy 30.0 PRX PMP22 MPZ MAG GDAP1
40 amyotrophic neuralgia 29.7 PRX PMP22
41 central nervous system disease 29.5 TUBB3 TTR MBP
42 charcot-marie-tooth disease 29.5 PRX PMP22 MT-ATP6 MPZ MBP MAG
43 peripheral nervous system disease 28.8 TUBB3 TTR PRX PNPLA6 PMP22 MPZ
44 chronic inflammatory demyelinating polyneuropathy 12.7
45 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 12.6
46 diabetic polyneuropathy 12.5
47 ataxia and polyneuropathy, adult-onset 12.5
48 critical illness polyneuropathy 12.5
49 polyendocrine-polyneuropathy syndrome 12.5
50 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.4

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABHD12 AKR1B1 APOA1 ARSA CD40LG CD59

MGI Mouse Phenotypes related to Polyneuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.09 ABHD12 AKR1B1 APOA1 ARSA CD40LG CD59
2 behavior/neurological MP:0005386 10.06 ABHD12 AKR1B1 ARSA DMXL2 GDAP1 MAG
3 cellular MP:0005384 10.03 APOA1 CD40LG CD59 GDAP1 GSN MBP
4 nervous system MP:0003631 9.8 ABHD12 ARSA CD40LG DMXL2 GDAP1 GSN
5 reproductive system MP:0005389 9.23 CD40LG CD59 DMXL2 GSN MBP MPZ

Drugs & Therapeutics for Polyneuropathy

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

(show top 50) (show all 264)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imipramine Approved Phase 4 50-49-7 3696
2
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
3
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Oxcarbazepine Approved Phase 4 28721-07-5 34312
6
Nortriptyline Approved Phase 4 72-69-5 4543
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
13
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Neuroprotective Agents Phase 4
17 Phosphodiesterase Inhibitors Phase 4
18 Protective Agents Phase 4
19 Platelet Aggregation Inhibitors Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Autonomic Agents Phase 4
22 Vasodilator Agents Phase 4
23 Bronchodilator Agents Phase 4
24 Phosphodiesterase 3 Inhibitors Phase 4
25 Neuromuscular Agents Phase 4
26 abobotulinumtoxinA Phase 4
27 Cholinergic Agents Phase 4
28 Acetylcholine Release Inhibitors Phase 4
29 Botulinum Toxins Phase 4
30 Botulinum Toxins, Type A Phase 4
31 Hormone Antagonists Phase 4
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
33 Gastrointestinal Agents Phase 4
34 Antioxidants Phase 4
35 Serotonin Uptake Inhibitors Phase 4
36 Parasympatholytics Phase 4
37 Antidepressive Agents, Second-Generation Phase 4
38 Muscarinic Antagonists Phase 4
39 Cholinergic Antagonists Phase 4
40 Serotonin Agents Phase 4
41 Alpha-lipoic Acid Phase 4
42 Thioctic Acid Phase 4
43 Dermatologic Agents Phase 4
44 Cytochrome P-450 CYP3A Inducers Phase 4
45 Cytochrome P-450 Enzyme Inducers Phase 4
46 Antidepressive Agents, Tricyclic Phase 4
47 glucocorticoids Phase 4
48 Anti-Inflammatory Agents Phase 4
49 Antineoplastic Agents, Hormonal Phase 4
50 Anti-Inflammatory Agents, Non-Steroidal Phase 4

Interventional clinical trials:

(show top 50) (show all 290)
# 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 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
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 Effects of Pregabalin on Mechanical Hyperalgesia - EPOM Unknown status NCT00310583 Phase 4 Pregabalin
6 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
7 Double-blind, Randomised, Placebo-controlled Trial of the Effect of Levetiracetam on Painful Polyneuropathy Completed NCT00286260 Phase 4 levetiracetam
8 Escitalopram as a Treatment for Pain in Polyneuropathy. A Double-Blind, Randomized, Placebo Controlled Trial. Completed NCT00162968 Phase 4 escitalopram
9 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
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 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS) Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
12 A Prospective, Open-label Trial of Lidoderm® (Lidocaine Patch 5%)in Painful Diabetic and Idiopathic Neuropathy. Completed NCT00903851 Phase 4 Lidoderm
13 A 12-week, Multi-center, Randomized, Double-blind, Double Dummy, Parallel Clinical Trial to Compare the Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy Completed NCT03914404 Phase 4 γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
14 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
15 Phase II Study To Evaluate The Safety And Efficacy Of Lenalidomide For The Treatment Of Refractory Cutaneous Lupus Completed NCT01408199 Phase 4 Lenalidomide
16 A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
17 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
18 Long Term, Double Blind, Randomized, Placebo Controlled Multi-center Study of FRE.M.S.- Frequency Modulated Neural Stimulation Lorenz Therapy™ in Symptomatic Diabetic Neuropathy Completed NCT01628627 Phase 4
19 Phase IV Study on New Insights in Remodeling of Diabetic Cardiomyopathy: Gender Difference in Intramyocardial, Molecular and Neuroendocrine Assessment in Response to Chronic Inhibition of Cyclic GMP Phosphodiesterase 5A Completed NCT01803828 Phase 4 Tadalafil;Placebo
20 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
21 Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP Recruiting NCT03684018 Phase 4
22 Comparison of the Efficacy of Corticosteroid Injection and Extracorporeal Shock Wave Therapy (ESWT) in Patients With Carpal Tunnel Syndrome; A Prospective Randomized Controlled Trial Not yet recruiting NCT03792945 Phase 4 local injection
23 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
24 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
25 Effect of Pioglitazone on Intima Media Thickness, Endothelial Function, and Heart Rate Variability in Patients With Impaired Glucose Tolerance Withdrawn NCT00306826 Phase 4 pioglitazone;simvastatin;pioglitazone + simvastatin
26 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
27 Neuromuscular Electrical Stimulation for Intensive Care Unit-acquired Weakness Unknown status NCT02706587 Phase 3
28 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
29 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
30 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
31 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
32 Safety and Efficacy of AS-3201 in the Treatment of Diabetic Sensorimotor Polyneuropathy Completed NCT00101426 Phase 3 ranirestat, (AS-3201)
33 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)
34 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
35 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
36 NPB-01(Intravenous Immunoglobulin) Maintenance Therapy for Patients With Chronic Inflammatory Demyelinating Polyneuropathy. Completed NCT01824251 Phase 3 NPB-01
37 Double-blind Randomized Trial of Rituximab Versus Placebo in Polyneuropathy Associated With Anti-MAG IgM Monoclonal Gammopathy Completed NCT00259974 Phase 3 Rituximab
38 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)
39 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
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 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
42 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
43 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
44 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
45 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
46 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
47 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
48 Dietetic and Hygiene Measures in Metabolic Neuropathies: the Neurodiet Study Completed NCT01465620 Phase 3
49 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
50 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)

Search NIH Clinical Center for Polyneuropathy

Cochrane evidence based reviews: polyneuropathies

Genetic Tests for Polyneuropathy

Anatomical Context for Polyneuropathy

MalaCards organs/tissues related to Polyneuropathy:

41
Liver, Testes, Skin, Heart, Spinal Cord, Bone, Endothelial

Publications for Polyneuropathy

Articles related to Polyneuropathy:

(show top 50) (show all 13580)
# 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). 9 38
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. 9 38
20015874 2010
3
[Chronic inflammatory demyelinating polyneuropathy after treatment with pegylated interferon alpha 2b in a patient with HIV/HCV coinfection: case report]. 9 38
20305976 2010
4
Chain reaction of amyloid fibril formation with induction of basement membrane in familial amyloidotic polyneuropathy. 9 38
19790249 2009
5
[Anti-MAG paraproteinemic demyelinating polyneuropathy: a clinical, biological, electrophysiological and anatomopathological descriptive study of a 13-patients' cohort]. 9 38
19487003 2009
6
Neuromuscular disease presentation with three genetic defects involving two genomes. 9 38
19853445 2009
7
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 9 38
19701715 2009
8
Clusterin regulates transthyretin amyloidosis. 9 38
19664600 2009
9
Chronic inflammatory demyelinating polyneuropathy associated with metastatic malignant melanoma of unknown primary origin. 9 38
19266164 2009
10
Detection of anti-MAG antibodies in polyneuropathy associated with IgM monoclonal gammopathy. 9 38
19720975 2009
11
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. 9 38
19372189 2009
12
Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0). 9 38
19344920 2009
13
Immunoglobulin M deposition in cutaneous nerves of anti-myelin-associated glycoprotein polyneuropathy patients correlates with axonal degeneration. 9 38
19151627 2009
14
Formation of cytotoxic transthyretin is not dependent on inter-molecular disulphide bridges commonly found within the amyloid form. 9 38
19065295 2008
15
Transthyretin forms amyloid fibrils at physiological pH with ultrasonication. 9 38
19065294 2008
16
Targeting of myelin protein zero in a spontaneous autoimmune polyneuropathy. 9 38
19050296 2008
17
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. 9 38
19062535 2008
18
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. 9 38
18438698 2008
19
Transthyretin amyloid goiter in a renal allograft recipient. 9 38
18369743 2008
20
[Diagnosis of familial amyloid polyneuropathy type I in Argentina]. 9 38
18786882 2008
21
Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon alpha 2a therapy for chronic hepatitis C virus infection. 9 38
18186575 2008
22
Unusual presentation of hereditary neuropathy with liability to pressure palsies. 9 38
18218131 2008
23
Extracellular matrix markers for disease progression and follow-up of therapies in familial amyloid polyneuropathy V30M TTR-related. 9 38
18776590 2008
24
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 9 38
17940173 2007
25
Retinol-binding protein 4 as a plasma biomarker of renal dysfunction and cardiovascular disease in type 2 diabetes. 9 38
17875187 2007
26
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 9 38
17923639 2007
27
Impairment of the ubiquitin-proteasome system associated with extracellular transthyretin aggregates in familial amyloidotic polyneuropathy. 9 38
17724793 2007
28
Misfolded transthyretin causes behavioral changes in a Drosophila model for transthyretin-associated amyloidosis. 9 38
17714186 2007
29
Combined heart and liver transplantation for familial amyloidotic neuropathy. 9 38
17449267 2007
30
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 9 38
17565535 2007
31
DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy. 9 38
17487420 2007
32
Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. 9 38
17381508 2007
33
The search of the target of promotion: Phenylbenzoate esterase activities in hen peripheral nerve. 9 38
17207828 2007
34
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement. 9 38
17142040 2007
35
Destabilization of transthyretin by pathogenic mutations in the DE loop. 9 38
17143887 2007
36
Treatment of hepatitis C virus-associated inflammatory polyneuropathy with pegylated interferon-alpha and ribavirin. 9 38
17206084 2007
37
Rituximab treatment in patients with IVIg-dependent immune polyneuropathy: a prospective pilot trial. 9 38
16967492 2007
38
Do carbamates cause polyneuropathy? 9 38
16897762 2006
39
Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy. 9 38
16616847 2006
40
Activation of ERK1/2 MAP kinases in familial amyloidotic polyneuropathy. 9 38
16515552 2006
41
Current issues in organophosphate toxicology. 9 38
16337171 2006
42
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. 9 38
16476939 2006
43
Peripheral neuropathies in Waldenström's macroglobulinaemia. 9 38
16421127 2006
44
Chromium(III) ion and thyroxine cooperate to stabilize the transthyretin tetramer and suppress in vitro amyloid fibril formation. 9 38
16386248 2006
45
A Swedish family with the rare Phe33Leu transthyretin mutation. 9 38
16194875 2005
46
Effect of nitric oxide in amyloid fibril formation on transthyretin-related amyloidosis. 9 38
16101296 2005
47
Human transthyretin in complex with iododiflunisal: structural features associated with a potent amyloid inhibitor. 9 38
15689188 2005
48
Dimeric transthyretin variant assembles into spherical neurotoxins. 9 38
15736938 2005
49
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. 9 38
15710861 2005
50
Differential diagnosis of chronic dysimmune demyelinating polyneuropathies with and without anti-MAG antibodies. 9 38
15536620 2005

Variations for Polyneuropathy

ClinVar genetic disease variations for Polyneuropathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GDAP1 NM_018972.4(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 8:75276240-75276240 8:74364005-74364005
2 ERCC5 NM_000123.3(ERCC5): c.2927_2928CT[1] (p.Leu977fs) short repeat Likely pathogenic rs1057518813 13:103525658-103525659 13:102873308-102873309
3 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 X:53410167-53410167 X:53383246-53383246

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 11.66 MPZ MAG CD40LG
2 11.4 MAG GSN GDAP1
3 11.14 PMP22 MPZ MBP
4
Show member pathways
10.54 TTR RBP4
5 9.53 MBP MAG

GO Terms for Polyneuropathy

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 TUBB3 TTR RBP4 GSN CD59 ARSA
2 extracellular space GO:0005615 9.61 TTR RBP4 GSN DMXL2 CD59 CD40LG
3 myelin sheath GO:0043209 9.46 MPZ MBP MAG GSN
4 Schmidt-Lanterman incisure GO:0043220 9.26 MAG AKR1B1
5 compact myelin GO:0043218 8.8 PMP22 MBP MAG

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

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.58 RBP4 GSN ARSA
2 glycerophospholipid catabolic process GO:0046475 9.37 PNPLA6 ABHD12
3 retinoid metabolic process GO:0001523 9.33 TTR RBP4 APOA1
4 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.32 MPZ MAG
5 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.26 MBP APOA1
6 myelination GO:0042552 9.13 PMP22 MPZ MBP
7 axon ensheathment GO:0008366 8.62 PRX MBP

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

# Name GO ID Score Top Affiliating Genes
1 lysophospholipase activity GO:0004622 8.62 PNPLA6 ABHD12

Sources for Polyneuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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