Peripheral Nervous System Disease

Categories: Immune diseases, Neuronal diseases
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Aliases & Classifications for Peripheral Nervous System Disease

MalaCards integrated aliases for Peripheral Nervous System Disease:

Name: Peripheral Nervous System Disease 11 14 16
Peripheral Neuropathy 11 52 75 28 5 16 71
Peripheral Neuropathy Due to Vitamin Pyridoxine Hyperalimentation 33
Peripheral Nerve Disorders 41
Peripheral Nerve Disease 11
Neuropathy, Peripheral 38


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Disease Ontology 11 DOID:574
ICD10 31 G64
ICD11 33 378925042
UMLS 71 C0031117 C1335029

Summaries for Peripheral Nervous System Disease

NINDS: 52 Peripheral neuropathy refers to the many conditions that involve damage to the peripheral nervous system, which sends signals between the brain and spinal cord and all other parts of the body. Neuropathy means damage to one or more nerves, especially the peripheral nerves. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms and prognosis. Impaired function and symptoms depend on the type of nerves that are damaged. Symptoms of neuropathy range from mild to disabling and may include a loss of reflexes, problems feeling pain or changes in temperature, numbness and tingling, and pain that is often worse at night. Symptoms may develop over days, weeks, or years. In some cases, the symptoms improve on their own and may not require advanced care. Causes of neuropathy include: diabetes physical injury (trauma) vascular and blood problems autoimmune disorders nutritional or vitamin imbalances, alcoholism, and exposure to toxins certain chemotherapy drugs infections  Most instances of neuropathy are either acquired, meaning the neuropathy isn’t present from the beginning of life, or genetic.  Acquired neuropathies are either symptomatic (the result of another disorder or condition) or idiopathic (meaning it has no known cause).

MalaCards based summary: Peripheral Nervous System Disease, also known as peripheral neuropathy, is related to charcot-marie-tooth disease, axonal, type 2e and sensory peripheral neuropathy, and has symptoms including tremor, back pain and headache. An important gene associated with Peripheral Nervous System Disease is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Neural crest differentiation and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Levobupivacaine and Nabilone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and dorsal root ganglion, and related phenotypes are nervous system and growth/size/body region

MedlinePlus: 41 Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include : Numbness Pain Burning or tingling Muscle weakness Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke

Disease Ontology: 11 A nervous system disease that affects the peripheral nervous system.

Wikipedia: 75 Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the... more...

Related Diseases for Peripheral Nervous System Disease

Diseases in the Peripheral Nervous System Disease family:

Autoimmune Disease of Peripheral Nervous System

Diseases related to Peripheral Nervous System Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1568)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 33.8 SH3TC2 PRX PMP22 NEFL MPZ MFN2
2 sensory peripheral neuropathy 33.8 SH3TC2 PRX PMP22 MPZ MFN2 GJB1
3 hereditary spastic paraplegia 33.5 SH3TC2 NEFL MPZ MFN2 IGHMBP2 HNRNPUL2-BSCL2
4 motor peripheral neuropathy 33.4 SH3TC2 PMP22 NEFL MFN2 IGHMBP2 DYNC1H1
5 charcot-marie-tooth disease and deafness 33.2 SH3TC2 PRX PMP22 NEFL MPZ MFN2
6 hypertrophic neuropathy of dejerine-sottas 33.1 SH3TC2 PRX PMP22 NEFL MPZ MFN2
7 charcot-marie-tooth disease, demyelinating, type 1b 33.0 SH3TC2 PRX PMP22 NEFL MPZ MFN2
8 neuromyotonia and axonal neuropathy, autosomal recessive 32.9 SH3TC2 MPZ MFN2 HINT1 GJB1
9 charcot-marie-tooth disease, axonal, type 2b 32.8 SH3TC2 NEFL MPZ MFN2 GJB1 GDAP1
10 charcot-marie-tooth disease, axonal, type 2j 32.8 SH3TC2 PRX NEFL MPZ GJB1 GDAP1
11 charcot-marie-tooth disease, type 4a 32.8 SH3TC2 PRX MPZ MFN2 GJB1 GDAP1
12 brachial plexus neuropathy 32.8 PMP22 MPZ GJB1
13 charcot-marie-tooth disease, axonal, type 2b2 32.7 NEFL MPZ MFN2 IGHMBP2 GDAP1
14 charcot-marie-tooth disease, dominant intermediate b 32.6 SH3TC2 MPZ GJB1 GDAP1
15 neuronopathy, distal hereditary motor, type vc 32.6 HNRNPUL2-BSCL2 BSCL2
16 neuropathy, congenital hypomyelinating, 1, autosomal recessive 32.5 SH3TC2 PRX PMP22 NEFL MPZ MFN2
17 neuropathy, hereditary motor and sensory, russe type 32.5 SH3TC2 GDAP1
18 pelizaeus-merzbacher disease 32.5 PMP22 MPZ GJB1
19 charcot-marie-tooth disease type 2a2b 32.5 MPZ MFN2 GDAP1
20 charcot-marie-tooth disease, recessive intermediate a 32.5 MFN2 GJB1 GDAP1
21 charcot-marie-tooth disease, axonal, type 2t 32.4 SH3TC2 IGHMBP2 GDAP1
22 scapuloperoneal spinal muscular atrophy 32.3 IGHMBP2 DYNC1H1
23 spastic paraplegia 55, autosomal recessive 32.2 GDAP1 GAN
24 nervous system disease 32.2 PMP22 NEFL MPZ MFN2 LMNA HFE
25 charcot-marie-tooth disease, demyelinating, type 1a 32.1 SH3TC2 PRX PMP22 NEFL MPZ MFN2
26 charcot-marie-tooth disease 32.1 SH3TC2 PRX PMP22 NEFL MPZ MFN2
27 neuropathy 32.1 SH3TC2 PRX PMP22 NEFL MPZ MFN2
28 neuromuscular disease 32.0 SH3TC2 PRX PMP22 NEFL MPZ MFN2
29 aceruloplasminemia 31.8 PEX6 MFN2 HFE HARS1
30 muscular atrophy 31.8 LMNA IGHMBP2 DYNC1H1 BSCL2
31 charcot-marie-tooth disease, x-linked dominant, 1 31.7 SH3TC2 PMP22 NEFL MPZ MFN2 GJB1
32 tooth disease 31.7 SH3TC2 PRX PMP22 NEFL MPZ MFN2
33 charcot-marie-tooth disease, axonal, type 2d 31.6 SH3TC2 NEFL MPZ MFN2 IGHMBP2 GJB1
34 sensorineural hearing loss 31.6 PMP22 PEX6 NEFL IARS2 GJB1
35 plexopathy 31.6 PMP22 NEFL MPZ GAN
36 neuropathy, hereditary, with liability to pressure palsies 31.5 SH3TC2 PRX PMP22 NEFL MPZ MFN2
37 friedreich ataxia 31.4 MPZ MFN2 HFE GJB1
38 spinal muscular atrophy 31.4 MPZ LMNA IGHMBP2 DYNC1H1 BSCL2
39 axonal neuropathy 31.3 NEFL MFN2 HINT1 GDAP1 GAN BAG3
40 polyneuropathy 31.3 SH3TC2 PRX PMP22 MPZ GJB1 GDAP1
41 neuronopathy, distal hereditary motor, type va 31.3 SH3TC2 MPZ MFN2 IGHMBP2 HNRNPUL2-BSCL2 GDAP1
42 optic nerve disease 31.3 NEFL MFN2 GDAP1
43 neuropathy, hereditary sensory and autonomic, type iia 31.2 SH3TC2 MFN2 IGHMBP2 GDAP1 BSCL2
44 charcot-marie-tooth disease, type 4b2 31.2 SH3TC2 PRX NEFL MPZ MFN2 GJB1
45 motor neuron disease 31.1 NEFL MPZ DYNC1H1 BSCL2
46 hereditary neuropathies 31.1 PRX PMP22 MPZ MFN2 LMNA GJB1
47 diabetic neuropathy 31.1 PMP22 MPZ HFE
48 mononeuropathy 31.1 SH3TC2 PMP22 MPZ GJB1
49 ulnar neuropathy 31.1 PMP22 MPZ
50 nerve compression syndrome 31.0 SH3TC2 PMP22 MPZ

Graphical network of the top 20 diseases related to Peripheral Nervous System Disease:

Diseases related to Peripheral Nervous System Disease

Symptoms & Phenotypes for Peripheral Nervous System Disease

UMLS symptoms related to Peripheral Nervous System Disease:

tremor; back pain; headache; syncope; pain; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness; neuralgia; neurologic symptoms; atypical facial pain

GenomeRNAi Phenotypes related to Peripheral Nervous System Disease according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 BAG3 BSCL2 DYNC1H1 GAN GDAP1 GJB1
2 no effect GR00402-S-2 10.17 BAG3 BSCL2 DYNC1H1 GAN GDAP1 HARS1

MGI Mouse Phenotypes related to Peripheral Nervous System Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 BSCL2 DYNC1H1 GAN GDAP1 GJB1 HFE
2 growth/size/body region MP:0005378 10.07 BAG3 BSCL2 DYNC1H1 GAN GJB1 HFE
3 cellular MP:0005384 9.93 BAG3 BSCL2 GAN GDAP1 GJB1 HFE
4 muscle MP:0005369 9.92 BAG3 DYNC1H1 GAN IGHMBP2 LMNA MFN2
5 behavior/neurological MP:0005386 9.86 BAG3 BSCL2 DYNC1H1 GAN GDAP1 GJB1
6 mortality/aging MP:0010768 9.47 BAG3 BSCL2 DYNC1H1 GAN GJB1 HFE

Drugs & Therapeutics for Peripheral Nervous System Disease

Drugs for Peripheral Nervous System Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
Nabilone Approved, Investigational Phase 4 51022-71-0 39860 5284592
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
Quinapril Approved, Investigational Phase 4 82586-55-8, 85441-61-8 54892
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Mecobalamin Approved, Investigational Phase 4 13422-55-4
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
Lacosamide Approved Phase 4 175481-36-4 21634109 219078
Duloxetine Approved Phase 4 136434-34-9, 116539-59-4 60835
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Norepinephrine Approved Phase 4 51-41-2 439260
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
Tapentadol Approved Phase 4 175591-23-8 9838022
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
Lipoic acid Approved, Investigational, Nutraceutical Phase 4 1200-22-2 864 6112
Cysteine Approved, Nutraceutical Phase 4 52-90-4 594 5862
Cobalamin Experimental Phase 4 13408-78-1 6857388
Epalrestat Investigational Phase 4 82159-09-9 1549120
24 Immunoglobulins, Intravenous Phase 4
25 gamma-Globulins Phase 4
26 Rho(D) Immune Globulin Phase 4
27 Antihypertensive Agents Phase 4
28 Narcotics Phase 4
29 Vitamin B6 Phase 4
30 Vitamin B 6 Phase 4
31 Calciferol Phase 4
32 Antiemetics Phase 4
33 Gastrointestinal Agents Phase 4
34 Bronchodilator Agents Phase 4
35 Anti-Asthmatic Agents Phase 4
36 Epinephryl borate Phase 4
37 Adrenergic beta-Agonists Phase 4
38 Adrenergic alpha-Agonists Phase 4
39 Adrenergic Agonists Phase 4
40 Vasoconstrictor Agents Phase 4
41 Mydriatics Phase 4
42 Sympathomimetics Phase 4
43 Angiotensin-Converting Enzyme Inhibitors Phase 4
44 HIV Protease Inhibitors Phase 4
protease inhibitors Phase 4
46 Narcotic Antagonists Phase 4
47 Sodium Channel Blockers Phase 4
48 Diuretics, Potassium Sparing Phase 4
49 Excitatory Amino Acid Antagonists Phase 4
50 Respiratory System Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 672)
# Name Status NCT ID Phase Drugs
1 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
2 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy. Multi-Center, Randomized Placebo Controlled Trial Unknown status NCT00123136 Phase 4
3 A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions Completed NCT03712475 Phase 4 Pregabalin
4 A 24 Week, Double-blind, Placebo-controlled, Multisite Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
5 A Multicenter Trial Evaluating the Safety and Efficacy of Cesamet™ for the Symptomatic Treatment of Chemotherapy-Induced Neuropathic Pain in Patients With Cancer Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
6 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
7 An Open Label Extension Safety Trial of Pregabalin (CI-1008) in Subjects With Diabetic Peripheral Neuropathy Completed NCT00159731 Phase 4 Pregabalin
8 A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
9 An Open-label, Randomized, Multi-center Clinical Trial to Evaluate the Safety and Efficacy in Peripheral Neuropathies Patients Treated With Mecobalamin Injection Completed NCT01192113 Phase 4 Mecobalamin IV Injection;Mecobalamin IM injection;Mecobalamin IV or IM injection
10 Neuroprotective Effect of Vitamin B12 and Vitamin B6 Against Vincristine Induced Peripheral Neuropathy: A Randomized, Double Blind, Placebo Controlled, Multi Center Trial Completed NCT02923388 Phase 4 Injection Mecobalamin,;Tablet Pyridoxine hydrochloride;Intravenous normal saline 1 ml;Placebo pill
11 Evaluation of a Structured Algorithm for Intrathecal Bolus Doses of Ziconotide (Prialt®)- The Swedish Ziconotide Bolus Study Completed NCT01373983 Phase 4 Ziconotide
12 A Prospective, Open Label, Multi-Center, Study Of Pregabalin In The Treatment Of Neuropathic Pain Associated With Diabetic Peripheral Neuropathy, Postherpetic Neuralgia, HIV-Related Peripheral Neuropathic Pain And Chemotherapy Induced Peripheral Neuropathic Pain Completed NCT00407511 Phase 4 Pregabalin
13 Efficacy of Administration of Angiotensin Converting Enzyme Inhibition on Autonomic and Peripheral Neuropathy in Patients With Diabetes Mellitus Completed NCT03031834 Phase 4 Quinapril
14 A Multicenter Trial Evaluating the Efficacy of Cesamet™ for the Symptomatic Treatment of Pain in Patients With Diabetic Peripheral Neuropathy Completed NCT00380913 Phase 4 Cesamet™ (nabilone)
15 High-dose Vitamin D Supplementation Reduces Inflammation and Improves Microcirculation in Patients With Diabetic Peripheral Neuropathy Completed NCT04377399 Phase 4 Vitamin D
16 A 13 Week, Double-Blind, Placebo-Controlled Phase 4 Trial of Pregabalin (CI-1008, 600 mg/Day) for Relief of Pain in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT00159679 Phase 4 Pregabalin
17 A 14-Week, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study To Evaluate The Safety And Efficacy Of Pregabalin (150mg-600mg/Day) Using A Flexible Optimal Dose Schedule In Patients With Painful Diabetic Peripheral Neuropathy (DPN). Completed NCT00156078 Phase 4 pregabalin
18 A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy Who Need Opioid Combination Treatment With Existing Pregabalin Treatment Completed NCT01675531 Phase 4 Targin
19 Efficacy and Safety of Pregabalin in an Open-label, Non-comparative, Flexible-dose Trial With Diabetic Peripheral Neuropathy or Postherpetic Neuralgia Completed NCT00629681 Phase 4 Pregabalin
20 Comparison of the Analgesic Effect of the Local Anesthetics Ropicacaine, Levobupivacaine, and Levobupivacaine + Epinephrin Via Interscalene Nerve Block in Patients Undergoing Shoulder Arthroscopy Under General Anesthesia Completed NCT02691442 Phase 4 Ropivacaine 0.75%;Levobupivacaine 0.5%;Levobupivacaine 0.5% + epinephrin 1/200000
21 Efficacy and Safety of Pregabalin and Alpha-lipoic Acid Combination Versus Each Monotherapy in Patients With Diabetic Peripheral Neuropathy: a Randomized, Parallel, Open-label, Multicenter, Phase IV Clinical Trial (OPTIMUM Trial) Recruiting NCT04846673 Phase 4 Pregabalin 150mg + Alpha-lipoic acid 480mg;Pregabalin 150mg;Alpha-Lipoic Acid 480mg
22 Effect of High-Dose N-acetyl Cysteine (NAC) on the Inflammatory Markers and Clinical Outcome of Patients With Diabetic Peripheral Neuropathy (DPN) Recruiting NCT04766450 Phase 4 Acetyl cysteine
23 Comparative Clinical Study Evaluating the Possible Efficacy of Duloxetine, Gabapentin and Lacosamide on Oxaliplatin-Induced Peripheral Neuropathy in Cancer Patients Recruiting NCT05510856 Phase 4
24 Effects of Epalrestat on Peripheral Neuropathy and Central Nervous System in Diabetic Patient Recruiting NCT05184049 Phase 4 Epalrestat,Mecobalamin;Mecobalamin
25 Efficacy of Pregabalin and Duloxetine in Patients With Painful Diabetic Peripheral Neuropathy (PDPN): the Effect of Pain on Cognitive Function, Sleep and Quality of Life (BLOSSOM) Terminated NCT04246619 Phase 4 Pregabalin;Duloxetine
26 Precision Spinal Cord Stimulation for Painful Diabetic Neuropathy Terminated NCT00487981 Phase 4
27 A Randomized, Double-Blind, Placebo-Controlled Trial Of The Prevention And Treatment Of Chemotherapy-Induced Peripheral Neuropathy Symptoms In Subjects With Advanced Colorectal Cancer Terminated NCT00380874 Phase 4 Pregabalin;Placebo
28 Phase 4 Study of Tapentadol vs Oxycodone in Neuropathic Pain Terminated NCT01458015 Phase 4 tapentadol, oxycodone
29 Pilot Study of L-Carnitine Supplementation in the Prevention of Chemotherapy-induced Peripheral Neuropathy in Women With Metastatic Breast Cancer Terminated NCT00754767 Phase 4 L-carnitine L-tartrate
30 A Phase 4, Randomized, Double-blind, Placebo-controlled, Cross-over Clinical Trial of a Single Shot of Intrathecal Ziconotide for the Treatment of Chronic, Medically Refractory Pain From Painful Peripheral Neuropathy or Myelopathy Withdrawn NCT01992562 Phase 4 Ziconotide;placebo
31 A Randomized, Double-blind, Placebo-controlled, Multicenter, Phase Ⅲ Clinical Trial of Yiqi Wenjing Prescriptions for Preventing Oxaliplatin-induced Peripheral Neuropathy Unknown status NCT04690283 Phase 3 Mimetic granules of Yiqi-Wenjing prescriptions;Huangqi-Guizhi-Wuwu granules;Danggui-Sini granules
32 Huo JieGe, Doctor of Medicine,Professor of Medicine,Professor of Medical Science. Unknown status NCT02590367 Phase 2, Phase 3 FOLFOX regimen;HD6610 Granule;HD6610 Granule placebo
33 The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy in Colorectal Cancer Patients. Randomized Trial Unknown status NCT02024191 Phase 3
34 Phase 3 Study to Evaluate Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients. Unknown status NCT00872352 Phase 3
35 Randomized, Assessor- and Participant-blinded, Controlled, and Parallel-design Approach to Investigate Whether Acupuncture Can Prevent or Postpone the Occurrence of Peripheral Neuropathy and Improve Quality of Life. Unknown status NCT02744274 Phase 3
36 A Randomized Controlled Trial of Mammalian Omega 3 With Vitamin D3 in Patients at Risk of Chemotherapy Induced Peripheral Neuropathy. Unknown status NCT02294149 Phase 3 mammalian Omega 3 Fatty acids;placebo
37 A Randomized, Sham-Controlled Clinical Study to Evaluate The Effect of the Magnetic Molecular Energizer (MME) on Diabetic Peripheral Neuropathy Unknown status NCT00134524 Phase 3
38 A Randomized Placebo-controlled Trial of Glutamine to Reduce the Signs and Symptoms of Peripheral Neuropathy in Breast Cancer Patients With a Mild Peripheral Neuropathy Receiving Paclitaxel Chemotherapy Completed NCT00195013 Phase 3 glutamine;Placebo
39 A Double Blind, Randomized, Placebo Controlled, Parallel Group Study of Sativex® in the Treatment of Subjects With Peripheral Neuropathic Pain, Associated With Allodynia Completed NCT00710554 Phase 3 Sativex;Placebo
40 A Phase III Double Blind Trial of Oral Duloxetine for Treatment of Pain Associated With Chemotherapy-Induced Peripheral Neuropathy Completed NCT00489411 Phase 3 duloxetine hydrochloride
41 Assessment of Topical Treatment Response With Amitriptyline and Ketamine: Combination Trial in Chemotherapy Peripheral Neuropathy (ATTRACT-CPN) Completed NCT00471445 Phase 3 ketamine/amitriptyline NP-H cream
42 A Multicentre, Open Label, Follow on Study to Assess the Maintenance of Effect, Tolerance and Safety of Sativex® in the Treatment of Subjects With Neuropathic Pain. This Will be Followed by a Randomised-withdrawal Phase (Part B) for a Subset of Patients Completed NCT00713817 Phase 3 Sativex®;Placebo
43 A Multicentre, Open Label, Follow on Study to Assess the Maintenance of Effect, Tolerance and Safety of Sativex® in the Treatment of Subjects With Neuropathic Pain. This Will be Followed by a Randomised-withdrawal Phase (Part B) for a Subset of Patients. Completed NCT00713323 Phase 3 Sativex®
44 A Double Blind, Randomised, Placebo Controlled Parallel Group Study of Cannabis Based Medicine Extract (CBME), in the Treatment of Peripheral Neuropathic Pain Characterised by Allodynia. Completed NCT00711880 Phase 3 Sativex®;Placebo
45 Glutamic Acid to Decrease Vincristine Toxicity in Children With Cancer Completed NCT00369564 Phase 3 glutamic acid
46 Use of Topical Lidocaine (Lidoderm 5% Patch) to Reduce Pain in Patients With Diabetic Neuropathy: Does the Density and Subtype of Sodium Channels Affect Response? Completed NCT01086150 Phase 2, Phase 3 Lidocaine 5% patches
47 A Randomized Phase III Trial of Amifostine vs. No Treatment for Platinum Induced Peripheral Neuropathy Completed NCT00058071 Phase 3 amifostine trihydrate
48 Twelve-Month Chronic Efficacy and Safety of Diepalrestat in Adult Subjects With Diabetic Peripheral Neuropathy (DPN), A Randomized, Double-Blind, Placebo-Controlled Study Completed NCT02332005 Phase 2, Phase 3 diepalrestat choline;Placebo
49 A Randomized-Withdrawal, Placebo-Controlled, Study Evaluating the Efficacy, Safety, and Tolerability of Tapentadol Extended-Release (ER) in Subjects With Chronic, Painful Diabetic Peripheral Neuropathy (DPN) Completed NCT01041859 Phase 3 Tapentadol extended release (ER);Placebo
50 A Multicentre, Randomised, Double-blind, Placebo-controlled Trial to Assess the Efficacy and Safety of Acetyllevocarnitine Hydrochloride Tablets in Chinese Patients With Paresthesias Caused by Diabetic Peripheral Neuropathy Completed NCT05319275 Phase 3 Acetyllevocarnitine Hydrochloride Tablets;Placebo

Search NIH Clinical Center for Peripheral Nervous System Disease

Genetic Tests for Peripheral Nervous System Disease

Genetic tests related to Peripheral Nervous System Disease:

# Genetic test Affiliating Genes
1 Peripheral Neuropathy 28

Anatomical Context for Peripheral Nervous System Disease

Organs/tissues related to Peripheral Nervous System Disease:

MalaCards : Spinal Cord, Brain, Dorsal Root Ganglion, Breast, Placenta, Skin, Lung

Publications for Peripheral Nervous System Disease

Articles related to Peripheral Nervous System Disease:

(show top 50) (show all 21726)
# Title Authors PMID Year
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 62 5
26257172 2015
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 62 5
25130867 2014
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 62 5
18853458 2009
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. 5
30124830 2018
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 5
25220016 2015
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 5
25008398 2014
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 5
21623771 2012
Transection injury differentially alters the proteome of the human sural nerve. 41
36417411 2022
New horizons of biomaterials in treatment of nerve damage in diabetes mellitus: A translational prospective review. 41
36387914 2022
Cutaneous expression of growth-associated protein 43 is not a compelling marker for human nerve regeneration in carpal tunnel syndrome. 41
36383568 2022
Hydrogen exerts neuroprotective effects by inhibiting oxidative stress in experimental diabetic peripheral neuropathy rats. 62
36204786 2023
Towards a mechanistic understanding of axon transport and endocytic changes underlying paclitaxel-induced peripheral neuropathy. 62
36279934 2023
Investigating the synergistic role of heavy metals in Arsenic-induced skin lesions in West Bengal, India. 62
36435151 2023
A new self-understanding as chemo sufferer - a phenomenological study of everyday life with chemotherapy induced neuropathy among survivors after colorectal cancer. 62
35315728 2022
Improving indicator-condition guided testing for HIV in the hospital setting (PROTEST 2·0): A multicenter, interrupted time-series analysis. 62
36246146 2022
Inhibition of glutamatergic neurons in layer II/III of the medial prefrontal cortex alleviates paclitaxel-induced neuropathic pain and anxiety. 62
36309050 2022
ThermoTRP channels in pain sexual dimorphism: new insights for drug intervention. 62
36202261 2022
Pharmacological management of cancer pain: Novel therapeutics. 62
36272265 2022
Morphological and Mechanical Properties of Lower-Limb Muscles in Type 2 Diabetes: New Potential Imaging Indicators for Monitoring the Progress of DPN. 62
36125913 2022
Association of Peripheral Serum MicroRNAs With Persistent Phantom Limb Pain in Individuals With Amputation. 62
35701872 2022
Periodontal ligaments enhance neurite outgrowth in trigeminal ganglion neurons through Wnt5a production induced by mechanical stimulation. 62
36374171 2022
Chemotherapy in patients with early breast cancer: clinical overview and management of long-term side effects. 62
36469577 2022
Effects of Lunar Phases on Foot Temperature, Oxidative Stress, and Inflammation in Type 2 Diabetic Subjects. 62
36475336 2022
Epimedin B exerts neuroprotective effect against MPTP-induced mouse model of Parkinson's disease: GPER as a potential target. 62
36411637 2022
Reproducibility and Reliability of Subbasal Corneal Nerve Parameters of the Inferior Whorl in the Neurotoxic and Healthy Cornea. 62
36155558 2022
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion. 62
36398590 2022
Konzepte der Sturzrisikoabschätzung bei neurogeriatrischen Patienten. 62
36459999 2022
Cisplatin-induced changes in calcitonin gene-related peptide or TNF-α release in rat dorsal root ganglia in vitro model of neurotoxicity are not reverted by rosiglitazone. 62
36228751 2022
Emerging roles of toll-like receptor 4 in chemotherapy-induced neurotoxicity. 62
36152729 2022
Role of inflammation and oxidative stress in chemotherapy-induced neurotoxicity. 62
35859244 2022
Higher systemic inflammatory status and cardiovascular risk associated with Charcot arthropathy unrelated to infection or extremity amputation. 62
36404847 2022
Hyperglycemia, symptoms, and symptom clusters in colorectal cancer survivors with type 2 diabetes. 62
36376764 2022
Ketogenic diet prevents methylglyoxal-evoked nociception by scavenging methylglyoxal. 62
35500286 2022
Comparison of the diagnostic accuracy of the 2021 EAN/PNS and 2010 EFNS/PNS diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy. 62
36190959 2022
Magnolol effectively ameliorates diabetic peripheral neuropathy in mice. 62
36122436 2022
Pulsed magnetic field treatment ameliorates the progression of peripheral neuropathy by modulating the neuronal oxidative stress, apoptosis and angiogenesis in a rat model of experimental diabetes. 62
32633145 2022
Study Protocol titled as "Effectiveness of neural mobilization in improving the ankle ROM and plantar pressure distribution in patients with diabetic peripheral neuropathy: A single group, pre post, quasi experimental study protocol". 62
36404825 2022
A global survey on the utilization of cryotherapy and compression therapy for the prevention of chemotherapy-induced peripheral neuropathy. 62
36214880 2022
Pterostilbene improves CFA-induced arthritis and peripheral neuropathy through modulation of oxidative stress, inflammatory cytokines and neurotransmitters in Wistar rats. 62
36138303 2022
36458560 2022
The effect of exercise therapy on balance in patients with diabetic peripheral neuropathy: a systematic review. 62
36404857 2022
Diagnostic accuracy of nerve ultrasonography for the detection of peripheral neuropathy in type 2 diabetes. 62
36039540 2022
Identifying participants' preferences for modifiable chemotherapy-induced peripheral neuropathy prevention clinical trial factors: an adaptive choice-based conjoint analysis. 62
36355216 2022
Peripheral neuropathy, protein aggregation and serotonergic neurotransmission: Distinctive bio-interactions of thiacloprid and thiamethoxam in the nematode Caenorhabditis elegans. 62
36155223 2022
NET-Triggered NLRP3 Activation and IL18 Release Drive Oxaliplatin-Induced Peripheral Neuropathy. 62
36255412 2022
Veratramine ameliorates pain symptoms in rats with diabetic peripheral neuropathy by inhibiting activation of the SIGMAR1-NMDAR pathway. 62
36373991 2022
Sensitivity and specificity of high frequency ultrasound score (DCEC) in diabetic peripheral neuropathy. 62
36404810 2022
Emerging Approaches for the Management of Chemotherapy-Induced Peripheral Neuropathy (CIPN): Therapeutic Potential of the C5a/C5aR Axis. 62
36098939 2022
Polygenic risk of paclitaxel-induced peripheral neuropathy: a genome-wide association study. 62
36474270 2022
Neurological complications in pediatric liver transplant recipients. 62
35959774 2022

Variations for Peripheral Nervous System Disease

ClinVar genetic disease variations for Peripheral Nervous System Disease:

5 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) SNV Pathogenic
156553 rs587783070 GRCh37: 1:220316451-220316451
GRCh38: 1:220143109-220143109
2 GJB1 NM_000166.6(GJB1):c.46C>G (p.His16Asp) SNV Pathogenic
1180789 GRCh37: X:70443603-70443603
GRCh38: X:71223753-71223753
3 NEFL NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) SNV Pathogenic
66698 rs62636502 GRCh37: 8:24813227-24813227
GRCh38: 8:24955713-24955713
4 IGHMBP2 NM_002180.3(IGHMBP2):c.449+1G>T SNV Pathogenic
204303 rs797044802 GRCh37: 11:68675806-68675806
GRCh38: 11:68908338-68908338
5 PEX6 NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) SNV Pathogenic
869197 rs1770427781 GRCh37: 6:42946518-42946518
GRCh38: 6:42978780-42978780
6 DYNC1H1 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) SNV Pathogenic
197195 rs794727634 GRCh37: 14:102446289-102446289
GRCh38: 14:101979952-101979952
7 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic
804285 rs1131040 GRCh37: 5:140057507-140057507
GRCh38: 5:140677922-140677922
8 HARS1 NM_002109.6(HARS1):c.730delG DEL Pathogenic
804286 rs1581505917 GRCh37: 5:140057005-140057005
GRCh38: 5:140677420-140677420
9 PEX6 NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) SNV Pathogenic
553552 rs267608239 GRCh37: 6:42933788-42933788
GRCh38: 6:42966050-42966050
10 GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) SNV Pathogenic
38411 rs281865060 GRCh37: 8:75272408-75272408
GRCh38: 8:74360173-74360173
11 MFN2 NM_014874.4(MFN2):c.839G>A (p.Arg280His) SNV Pathogenic
2271 rs28940294 GRCh37: 1:12061480-12061480
GRCh38: 1:12001423-12001423
12 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Pathogenic
Likely Pathogenic
14029 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
13 HINT1 NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) SNV Pathogenic
37312 rs149782619 GRCh37: 5:130500789-130500789
GRCh38: 5:131165096-131165096
14 IGHMBP2 NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) SNV Pathogenic
162194 rs372000714 GRCh37: 11:68673588-68673588
GRCh38: 11:68906120-68906120
15 GJB1 NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) SNV Pathogenic
543920 rs1241595912 GRCh37: X:70444048-70444048
GRCh38: X:71224198-71224198
16 BAG3 NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) SNV Pathogenic
5981 rs121918312 GRCh37: 10:121431885-121431885
GRCh38: 10:119672373-119672373
17 PRX NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) SNV Pathogenic
637398 rs144183238 GRCh37: 19:40903169-40903169
GRCh38: 19:40397262-40397262
18 HFE NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) SNV Pathogenic
9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
19 BSCL2, HNRNPUL2-BSCL2 NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) SNV Pathogenic
4543 rs137852972 GRCh37: 11:62469971-62469971
GRCh38: 11:62702499-62702499
20 PRX NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) SNV Likely Pathogenic
4789 rs104894715 GRCh37: 19:40903157-40903157
GRCh38: 19:40397250-40397250
21 NEFL NM_006158.5(NEFL):c.837G>A (p.Trp279Ter) SNV Likely Pathogenic
689368 rs1586128169 GRCh37: 8:24813193-24813193
GRCh38: 8:24955679-24955679
22 GDAP1 NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) DEL Likely Pathogenic
816531 rs765346218 GRCh37: 8:75276327-75276328
GRCh38: 8:74364092-74364093
23 GJB1 NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) SNV Likely Pathogenic
477596 rs1555937161 GRCh37: X:70443927-70443927
GRCh38: X:71224077-71224077
24 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val) SNV Likely Pathogenic
200932 rs794728588 GRCh37: 1:156085053-156085053
GRCh38: 1:156115262-156115262
25 SORD NM_003104.6(SORD):c.757del (p.Ala253fs) DEL Likely Pathogenic
929258 rs55901542 GRCh37: 15:45361217-45361217
GRCh38: 15:45069019-45069019
26 AARS1 NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) SNV Likely Pathogenic
623889 rs777601008 GRCh37: 16:70302269-70302269
GRCh38: 16:70268366-70268366
27 HINT1 NM_005340.7(HINT1):c.266G>T (p.Gly89Val) SNV Likely Pathogenic
37314 rs397514490 GRCh37: 5:130495255-130495255
GRCh38: 5:131159562-131159562
28 DNAJB5 NM_001349723.3(DNAJB5):c.43C>T (p.Pro15Ser) SNV Likely Pathogenic
243086 rs774909609 GRCh37: 9:34990670-34990670
GRCh38: 9:34990673-34990673
29 CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) SNV Likely Pathogenic
397615 rs777219451 GRCh37: 2:233405327-233405327
GRCh38: 2:232540617-232540617
30 IGHMBP2 NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) SNV Likely Pathogenic
9114 rs137852667 GRCh37: 11:68702872-68702872
GRCh38: 11:68935404-68935404
31 MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) SNV Likely Pathogenic
549681 rs1553259707 GRCh37: 1:161276701-161276701
GRCh38: 1:161306911-161306911
32 GAN NM_022041.4(GAN):c.994G>A (p.Gly332Arg) SNV Likely Pathogenic
578416 rs1567494825 GRCh37: 16:81396124-81396124
GRCh38: 16:81362519-81362519
33 KIF5A NM_004984.4(KIF5A):c.262A>G (p.Thr88Ala) SNV Likely Pathogenic
1707549 GRCh37: 12:57957447-57957447
GRCh38: 12:57563664-57563664
34 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) DEL Likely Pathogenic
548658 rs765211108 GRCh37: 3:25770699-25770702
GRCh38: 3:25729208-25729211
35 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Likely Pathogenic
804288 rs754304255 GRCh37: 5:140054329-140054329
GRCh38: 5:140674744-140674744
36 GDAP1 NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) SNV Likely Pathogenic
406135 rs538412810 GRCh37: 8:75272519-75272519
GRCh38: 8:74360284-74360284
37 MFN2 NM_014874.4(MFN2):c.334G>A (p.Val112Met) SNV Likely Pathogenic
587402 rs757937208 GRCh37: 1:12056235-12056235
GRCh38: 1:11996178-11996178
38 GJB1 NM_000166.6(GJB1):c.218A>G (p.His73Arg) SNV Likely Pathogenic
1004038 rs748384293 GRCh37: X:70443775-70443775
GRCh38: X:71223925-71223925
39 SH3TC2 NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) SNV Likely Pathogenic
448370 rs759785462 GRCh37: 5:148386608-148386608
GRCh38: 5:149007045-149007045
40 SLC12A6 NM_001365088.1(SLC12A6):c.1655G>A (p.Gly552Asp) SNV Likely Pathogenic
1328560 GRCh37: 15:34538063-34538063
GRCh38: 15:34245862-34245862
41 MME NM_007289.4(MME):c.499T>A (p.Trp167Arg) SNV Likely Pathogenic
1180795 GRCh37: 3:154834512-154834512
GRCh38: 3:155116723-155116723
42 GDAP1 NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter) SNV Likely Pathogenic
1180832 GRCh37: 8:75263548-75263548
GRCh38: 8:74351313-74351313
43 COX6A1 NM_004373.4(COX6A1):c.103+1G>C SNV Likely Pathogenic
560368 rs377504835 GRCh37: 12:120876033-120876033
GRCh38: 12:120438230-120438230
44 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) SNV Likely Pathogenic
243087 rs879253869 GRCh37: 8:82357170-82357170
GRCh38: 8:81444935-81444935
45 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) SNV Likely Pathogenic
243088 rs755919784 GRCh37: 20:13053048-13053048
GRCh38: 20:13072400-13072400
46 MPZ NM_000530.8(MPZ):c.646-2A>C SNV Likely Pathogenic
1183966 GRCh37: 1:161275769-161275769
GRCh38: 1:161305979-161305979
47 PMP22 NM_000304.4(PMP22):c.55dup (p.Leu19fs) DUP Likely Pathogenic
1183969 GRCh37: 17:15163989-15163990
GRCh38: 17:15260672-15260673
48 MME NM_007289.4(MME):c.1861T>C (p.Cys621Arg) SNV Likely Pathogenic
242839 rs879253752 GRCh37: 3:154886361-154886361
GRCh38: 3:155168572-155168572
49 MPZ NM_000530.8(MPZ):c.68-2A>C SNV Likely Pathogenic
1180633 GRCh37: 1:161277216-161277216
GRCh38: 1:161307426-161307426
50 SH3TC2 NM_024577.4(SH3TC2):c.163_164del (p.Ser55fs) MICROSAT Likely Pathogenic
1180652 GRCh37: 5:148427540-148427541
GRCh38: 5:149047977-149047978

Copy number variations for Peripheral Nervous System Disease from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 107001 17 11200000 15900000 Copy number Peripheral neuropathy

Expression for Peripheral Nervous System Disease

Search GEO for disease gene expression data for Peripheral Nervous System Disease.

Pathways for Peripheral Nervous System Disease

Pathways related to Peripheral Nervous System Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.34 PMP22 MPZ GJB1
2 10.58 PRX PMP22 MPZ

GO Terms for Peripheral Nervous System Disease

Biological processes related to Peripheral Nervous System Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retrograde axonal transport GO:0008090 9.26 NEFL DYNC1H1
2 peripheral nervous system myelin maintenance GO:0032287 8.92 SH3TC2 PRX

Sources for Peripheral Nervous System Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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