Peripheral Nervous System Disease

Categories: Immune diseases, Neuronal diseases

Aliases & Classifications for Peripheral Nervous System Disease

MalaCards integrated aliases for Peripheral Nervous System Disease:

Name: Peripheral Nervous System Disease 12 6 15 17
Peripheral Neuropathy 12 73 53 29 6 17 70
Peripheral Nerve Disease 12 6
Peripheral Nerve Disorders 42
Neuropathy, Peripheral 39


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Disease Ontology 12 DOID:574
ICD10 32 G64
UMLS 70 C0031117 C1335029

Summaries for Peripheral Nervous System Disease

NINDS : 53 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 sensory peripheral neuropathy and autoimmune peripheral neuropathy, and has symptoms including seizures, tremor and back pain. An important gene associated with Peripheral Nervous System Disease is NEFL (Neurofilament Light Chain). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include breast, spinal cord and skin.

Disease Ontology : 12 A nervous system disease that affects the peripheral nervous system.

MedlinePlus : 42 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

Wikipedia : 73 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 1267)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 33.3 SPTLC3 GJB1 GDAP1
2 autoimmune peripheral neuropathy 33.2 PMP2 GJB1
3 charcot-marie-tooth disease, axonal, type 2w 32.7 HARS1 GJB1 GDAP1
4 charcot-marie-tooth disease and deafness 32.6 PMP2 NEFL GJB1 GDAP1
5 charcot-marie-tooth disease, axonal, type 2b 32.5 NEFL GJB1 GDAP1
6 spastic paraplegia 55, autosomal recessive 32.5 SPG7 GDAP1 COX6A1
7 hypertrophic neuropathy of dejerine-sottas 32.5 NEFL GJB1 GDAP1
8 charcot-marie-tooth disease, type 4a 32.4 PMP2 GJB1 GDAP1
9 charcot-marie-tooth disease, axonal, type 2b2 32.4 NEFL GDAP1 COX6A1
10 charcot-marie-tooth disease, axonal, type 2j 32.2 NEFL GDAP1
11 neuropathy 32.1 SPTLC3 SPG7 PMP2 PEX6 NGLY1 NEFL
12 slowed nerve conduction velocity, autosomal dominant 31.8 NEFL GJB1
13 charcot-marie-tooth disease, demyelinating, type 1a 31.5 NEFL GJB1 GDAP1
14 neuritis 31.5 SPTLC3 PMP2 PEX6 NGLY1 NEFL LMNA
15 charcot-marie-tooth disease, axonal, type 2e 31.3 SPG7 NEFL LMNA HARS1 GJB1 GDAP1
16 polyneuropathy 31.2 SPG7 LMNA GJB1 GDAP1 ERCC5 BIVM-ERCC5
17 tooth disease 31.2 PMP2 NEFL LMNA HARS1 H2AC18 GJB1
18 charcot-marie-tooth disease 31.2 PMP2 NEFL LMNA HARS1 H2AC18 GJB1
19 spinal muscular atrophy 31.1 SPG7 NEFL MIR9-1 LMNA
20 neuromuscular disease 31.0 NEFL LMNA H2AC18 GJB1 GDAP1 CHRNG
21 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.0 PMP2 NEFL LMNA GJB1 GDAP1
22 axonal neuropathy 30.9 NEFL LMNA GDAP1
23 charcot-marie-tooth disease, demyelinating, type 1b 30.9 NEFL GJB1 GDAP1
24 hutchinson-gilford progeria syndrome 30.7 SPG7 MIR9-1 LMNA H2AC18
25 inherited metabolic disorder 30.7 MIR9-1 MIR34A HFE H2AC18
26 charcot-marie-tooth disease, demyelinating, type 1f 30.7 NEFL GJB1 GDAP1
27 hereditary motor and sensory neuropathy, type iic 30.7 NEFL GJB1 GDAP1
28 charcot-marie-tooth disease, axonal, type 2f 30.7 NEFL GJB1 GDAP1
29 charcot-marie-tooth disease, x-linked dominant, 1 30.7 NEFL GJB1 GDAP1
30 charcot-marie-tooth disease, axonal, type 2d 30.7 NEFL GJB1 GDAP1
31 charcot-marie-tooth disease, demyelinating, type 1c 30.6 NEFL GJB1 GDAP1
32 breast disease 30.6 MIR9-1 MIR34A H2AC18 ERCC5
33 charcot-marie-tooth disease, type 4b2 30.6 NEFL GJB1 GDAP1
34 paine syndrome 30.6 HFE H2AC18 GJB1
35 cerebellar disease 30.3 SPG7 MIR9-1 H2AC18
36 agenesis of the corpus callosum with peripheral neuropathy 11.7
37 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 11.7
38 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.6
39 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 11.5
40 sorbitol dehydrogenase deficiency with peripheral neuropathy 11.5
41 neuropathy, hereditary motor and sensory, type via, with optic atrophy 11.4
42 deafness, x-linked 5, with peripheral neuropathy 11.4
43 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.4
44 intellectual developmental disorder with speech delay and axonal peripheral neuropathy 11.4
45 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 11.4
46 spastic paraplegia 10, autosomal dominant 11.3
47 spastic ataxia, charlevoix-saguenay type 11.3
48 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 11.3
49 motor peripheral neuropathy 11.2
50 amyloidosis, hereditary, transthyretin-related 11.2

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:

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

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 289)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Racepinephrine Approved Phase 4 329-65-7 838
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
Nabilone Approved, Investigational Phase 4 51022-71-0 5284592
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 4 54-47-7 1051
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
17 Immunoglobulins, Intravenous Phase 4
18 gamma-Globulins Phase 4
19 Rho(D) Immune Globulin Phase 4
20 Nutrients Phase 4
21 Trace Elements Phase 4
22 Micronutrients Phase 4
23 Vitamins Phase 4
24 Antiemetics Phase 4
25 Calciferol Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Vasoconstrictor Agents Phase 4
28 Epinephryl borate Phase 4
29 Adrenergic beta-Agonists Phase 4
30 Anti-Asthmatic Agents Phase 4
31 Mydriatics Phase 4
32 Sympathomimetics Phase 4
33 Adrenergic Agonists Phase 4
34 Bronchodilator Agents Phase 4
35 Vitamin B 6 Phase 4
36 Antihypertensive Agents Phase 4
37 Angiotensin-Converting Enzyme Inhibitors Phase 4
protease inhibitors Phase 4
39 HIV Protease Inhibitors Phase 4
40 Narcotic Antagonists Phase 4
41 Anti-Bacterial Agents Phase 4
42 Antimetabolites Phase 4
43 Lipid Regulating Agents Phase 4
44 Hypolipidemic Agents Phase 4
45 Antitubercular Agents Phase 4
46 Anti-Inflammatory Agents Phase 4
47 Antioxidants Phase 4
48 Antidotes Phase 4
49 Expectorants Phase 4
50 N-monoacetylcystine Phase 4

Interventional clinical trials:

(show top 50) (show all 510)
# Name Status NCT ID Phase Drugs
1 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;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 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
4 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
5 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
6 Effect of Duloxetine on Opioid Use After Total Knee Arthroplasty: A Double-blinded Randomized Control Trial Completed NCT03271151 Phase 4 Cymbalta
7 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)
8 An Open Label Extension Safety Trial of Pregabalin (CI-1008) in Subjects With Diabetic Peripheral Neuropathy Completed NCT00159731 Phase 4 Pregabalin
9 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
10 A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
11 Evaluation of a Structured Algorithm for Intrathecal Bolus Doses of Ziconotide (Prialt®)- The Swedish Ziconotide Bolus Study Completed NCT01373983 Phase 4 Ziconotide
12 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
13 A 24 Week, Double-blind, Placebo-controlled, Multisite Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
14 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
15 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)
16 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
17 Efficacy of Administration of Angiotensin Converting Enzyme Inhibition on Autonomic and Peripheral Neuropathy in Patients With Diabetes Mellitus Completed NCT03031834 Phase 4 Quinapril
18 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
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 High-dose Vitamin D Supplementation Reduces Inflammation and Improves Microcirculation in Patients With Diabetic Peripheral Neuropathy Completed NCT04377399 Phase 4 Vitamin D
21 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
22 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) Recruiting NCT04246619 Phase 4 Pregabalin;Duloxetine
23 URBAN ARCH (3/5) Uganda Cohort TB Preventive Therapy for HIV-infected Alcohol Users in Uganda: an Evaluation of Safety Tolerability and Adherence Active, not recruiting NCT03302299 Phase 4 Isoniazid 300 Mg ORAL TABLET;Pyridoxine 25 Mg Oral Tablet
24 Effect of High-Dose N-acetyl Cysteine (NAC) on the Inflammatory Markers and Clinical Outcome of Patients With Diabetic Peripheral Neuropathy (DPN) Not yet recruiting NCT04766450 Phase 4 Acetyl cysteine
25 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
26 Phase 4 Study of Tapentadol vs Oxycodone in Neuropathic Pain Terminated NCT01458015 Phase 4 tapentadol, oxycodone
27 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
28 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
29 A Phase 3 Trial Comparing Cyclophosphamide,Bortezomib,and Dexamethasone (CyBorD) and Bortezomib,Doxorubicin,and Dexamethasone (PAD) in the Treatment of Newly Diagnosed Multiple Myeloma Unknown status NCT02362165 Phase 3 Cyclophosphamide;Bortezomib;Dexamethasone;Doxorubicin
30 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
31 The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy in Colorectal Cancer Patients. Randomized Trial Unknown status NCT02024191 Phase 3
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 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
34 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
35 Phase 3 Study to Evaluate Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients. Unknown status NCT00872352 Phase 3
36 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
37 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
38 A Randomized Phase III Trial of Amifostine vs. No Treatment for Platinum Induced Peripheral Neuropathy Completed NCT00058071 Phase 3 amifostine trihydrate
39 Glutamic Acid to Decrease Vincristine Toxicity in Children With Cancer Completed NCT00369564 Phase 3 glutamic acid
40 A Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Tramadol HCl/Acetaminophen for the Treatment of Painful Diabetic Neuropathy Completed NCT00210847 Phase 3 tramadol, acetaminophen
41 Duloxetine Versus Placebo in the Treatment of Patients With Painful Diabetic Neuropathy Completed NCT00058968 Phase 3 Duloxetine hydrochloride;placebo
42 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
43 A Phase 3, Double-blind, Multicenter, Placebo-controlled Study of PledOx Used on Top of Modified FOLFOX6 (5-FU/FA and Oxaliplatin) to Prevent Chemotherapy Induced Peripheral Neuropathy (CIPN) in the Adjuvant Treatment of Patients With Stage III or High-risk Stage II Colorectal Cancer Completed NCT04034355 Phase 3 Calmangafodipir (5 µmol/kg)
44 Dietetic and Hygiene Measures in Metabolic Neuropathies: the Neurodiet Study Completed NCT01465620 Phase 3
45 A Multicenter Randomized, Double-Blind, Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00300222 Phase 3 NGX-4010
46 A Randomized, Double-Blind, Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00115310 Phase 3 NGX-4010
47 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
48 Muscarinic Receptor Antagonists as a Therapy for Diabetic Neuropathy Completed NCT03050827 Phase 3 3% oxybutynin;Placebo
49 A Randomized, Controlled, Long-term Safety Study Evaluating the Effect of Repeated Applications of QUTENZATM Plus Standard of Care Versus Standard of Care Alone in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT01478607 Phase 3 QUTENZA
50 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

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 29

Anatomical Context for Peripheral Nervous System Disease

MalaCards organs/tissues related to Peripheral Nervous System Disease:

Breast, Spinal Cord, Skin, Dorsal Root Ganglion, Prostate, Kidney, Bone Marrow

Publications for Peripheral Nervous System Disease

Articles related to Peripheral Nervous System Disease:

(show top 50) (show all 18958)
# Title Authors PMID Year
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 61 6
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. 61 6
25130867 2014
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. 61 42
33664271 2021
Traditional Chinese medicine fumigation as auxiliary treatment of diabetic peripheral neuropathy: A protocol for systematic review and meta-analysis. 42 61
33530212 2021
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 6
25220016 2015
Brachial Plexus Neuropathies During the COVID-19 Pandemic: A Retrospective Case Series of 15 Patients in Critical Care. 42
33395478 2021
Transplantation of engineered exosomes derived from bone marrow mesenchymal stromal cells ameliorate diabetic peripheral neuropathy under electrical stimulation. 61
33553812 2021
Hepatocyte growth factor is necessary for efficient outgrowth of injured peripheral axons in in vitro culture system and in vivo nerve crush mouse model. 61
33718632 2021
Simultaneous T1 , T2 , and T1ρ relaxation mapping of the lower leg muscle with MR fingerprinting. 61
33554369 2021
Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease. 61
33786404 2021
Medium-term outcomes of multi-disciplinary surgical management of non-ischemic diabetic heel ulcers. 61
33717969 2021
Characterization of the anti-α-Gal antibody profile in association with Guillain-Barré syndrome, implications for tick-related allergic reactions. 61
33465663 2021
Gene expression profiles of diabetic kidney disease and neuropathy in eNOS knockout mice: Predictors of pathology and RAS blockade effects. 61
33788970 2021
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. 61
33533561 2021
Immune-mediated vincristine-induced neuropathy: Unlocking therapies. 61
33751022 2021
SARM1 is required in human derived sensory neurons for injury-induced and neurotoxic axon degeneration. 61
33548217 2021
M-EA (methotrexate, etoposide, dactinomycin) and EMA-CO (methotrexate, etoposide, dactinomycin / cyclophosphamide, vincristine) regimens as first-line treatment of high-risk gestational trophoblastic neoplasia. 61
33210289 2021
Vincristine-induced peripheral neuropathy is driven by canonical NLRP3 activation and IL-1β release. 61
33656514 2021
Neuroprotective effect of paeonol in streptozotocin-induced diabetes in rats. 61
33577853 2021
Population pharmacokinetic model development and exposure-response analysis of vincristine in patients with malignant lymphoma. 61
33416909 2021
Polyneuropathy and monoclonal gammopathy of undetermined significance (MGUS); update of a clinical experience. 61
33647732 2021
Correction to: A placebo‑controlled, double‑blind, randomized study of recombinant thrombomodulin (ART‑123) to prevent oxaliplatin‑induced peripheral neuropathy. 61
33136172 2021
CE: Chemotherapy-Induced Peripheral Neuropathy. 61
33735114 2021
Melittin, a honeybee venom derived peptide for the treatment of chemotherapy-induced peripheral neuropathy. 61
33796975 2021
Effects of the food additive monosodium glutamate on cisplatin-induced gastrointestinal dysmotility and peripheral neuropathy in the rat. 61
33112027 2021
Diabetic peripheral neuropathy: Person-centered care. 61
33759862 2021
Effectiveness and safety of low-level laser therapy in diabetic peripheral neuropathy: a protocol for a systematic review and meta-analysis. 61
33810813 2021
Characterization of chemotherapy-induced peripheral neuropathy using patient-reported outcomes and quantitative sensory testing. 61
33507480 2021
Diabetic peripheral neuropathy: Person-centered care. 61
33759861 2021
Single arm, phase two study of low-dose metronomic eribulin in metastatic breast cancer. 61
33797651 2021
Meta-analysis of nanoparticle albumin-bound paclitaxel used as neoadjuvant chemotherapy for operable breast cancer based on individual patient data (JBCRG-S01 study). 61
33811599 2021
The course of peripheral neuropathy and its association with health-related quality of life among colorectal cancer patients. 61
33185839 2021
Balance impairment in survivors of pediatric brain cancers: risk factors and associated physical limitations. 61
32895869 2021
The neuroprotective effect of oxytocin on vincristine-induced neurotoxicity in mice. 61
33429010 2021
Prevalence and risk factors for diabetic neuropathy and painful diabetic neuropathy in primary and secondary healthcare in Qatar. 61
32799429 2021
Rapid quantification of vincristine in mouse plasma using ESI-LC-MS/MS: Application to pharmacokinetic studies. 61
33684722 2021
Ameliorative potential of flavonoids of Aegle marmelos in vincristine-induced neuropathic pain and associated excitotoxicity. 61
31221045 2021
Satellite glia as a critical component of diabetic neuropathy: Role of lipocalin-2 and pyruvate dehydrogenase kinase-2 axis in the dorsal root ganglion. 61
33251681 2021
Point process models for sweat gland activation observed with noise. 61
33517587 2021
Protection against oxaliplatin-induced mechanical and thermal hypersensitivity in Sarm1-/- mice. 61
33460644 2021
Blood molecular biomarkers for chemotherapy-induced peripheral neuropathy: From preclinical models to clinical practice. 61
33600907 2021
Early detection of neuropathy in patients with type 2 diabetes with or without microalbuminuria in the absence of peripheral neuropathy and retinopathy. 61
33648764 2021
Anti-calcitonin gene-related peptide monoclonal antibodies for neuropathic pain in patients with migraine headache. 61
33347632 2021
Primary care providers perform more neurologic visits than neurologists among Medicare beneficiaries. 61
32754960 2021
Xeroderma Pigmentosum: A Model for Human Premature Aging. 61
33436302 2021
Skin autofluorescence and the complexity of complications in patients with type 2 diabetes mellitus: a cross-sectional study. 61
33794864 2021
Diagnostic utility of corneal confocal microscopy in type 2 diabetic peripheral neuropathy. 61
32745370 2021
Efficacy and tolerability of DPP4 inhibitor, teneligliptin, on autonomic and peripheral neuropathy in type 2 diabetes: an open label, pilot study. 61
32803534 2021
Diabetic fibrosis. 61
33378699 2021
Docetaxel-induced acute myositis: a case report with review of literature. 61
32619151 2021

Variations for Peripheral Nervous System Disease

ClinVar genetic disease variations for Peripheral Nervous System Disease:

6 (show top 50) (show all 118)
# 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 SPG7 NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) SNV Pathogenic 689557 rs1597597437 GRCh37: 16:89574912-89574912
GRCh38: 16:89508504-89508504
3 PEX6 NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) SNV Pathogenic 869197 GRCh37: 6:42946518-42946518
GRCh38: 6:42978780-42978780
4 PEX6 NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) SNV Pathogenic 553552 rs267608239 GRCh37: 6:42933788-42933788
GRCh38: 6:42966050-42966050
5 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
6 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 rs1131040 GRCh37: 5:140057507-140057507
GRCh38: 5:140677922-140677922
7 HARS1 NM_002109.6(HARS1):c.730delG Deletion Pathogenic 804286 rs1581505917 GRCh37: 5:140057005-140057005
GRCh38: 5:140677420-140677420
8 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Pathogenic 14029 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
9 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV Pathogenic 9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
10 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Likely pathogenic 14029 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
11 COX6A1 NM_004373.4(COX6A1):c.103+1G>C SNV Likely pathogenic 560368 rs377504835 GRCh37: 12:120876033-120876033
GRCh38: 12:120438230-120438230
12 GJB1 NM_000166.6(GJB1):c.218A>G (p.His73Arg) SNV Likely pathogenic 1004038 GRCh37: X:70443775-70443775
GRCh38: X:71223925-71223925
13 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) Deletion Likely pathogenic 548658 rs765211108 GRCh37: 3:25770699-25770702
GRCh38: 3:25729208-25729211
14 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val) SNV Likely pathogenic 200932 rs794728588 GRCh37: 1:156085053-156085053
GRCh38: 1:156115262-156115262
15 DNAJB5 NM_001135005.3(DNAJB5):c.43C>T (p.Pro15Ser) SNV Likely pathogenic 243086 rs774909609 GRCh37: 9:34990670-34990670
GRCh38: 9:34990673-34990673
16 CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) SNV Likely pathogenic 397615 rs777219451 GRCh37: 2:233405327-233405327
GRCh38: 2:232540617-232540617
17 PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) SNV Likely pathogenic 243087 rs879253869 GRCh37: 8:82357170-82357170
GRCh38: 8:81444935-81444935
18 SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) SNV Likely pathogenic 243088 rs755919784 GRCh37: 20:13053048-13053048
GRCh38: 20:13072400-13072400
19 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2927_2928CT[1] (p.Leu977fs) Microsatellite Likely pathogenic 373982 rs1057518813 GRCh37: 13:103525655-103525656
GRCh38: 13:102873305-102873306
20 SMC1A NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) SNV Uncertain significance 373969 rs781817923 GRCh37: X:53410167-53410167
GRCh38: X:53383246-53383246
21 PNPLA6 NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) SNV Uncertain significance 397619 rs372193709 GRCh37: 19:7606906-7606906
GRCh38: 19:7542020-7542020
22 PRX NM_020956.2(PRX):c.*2540G>A SNV Uncertain significance 397620 rs369505684 GRCh37: 19:40901924-40901924
GRCh38: 19:40396017-40396017
23 KIFBP NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup) Duplication Uncertain significance 397616 rs767103634 GRCh37: 10:70748746-70748747
GRCh38: 10:68988990-68988991
24 PHKA1 NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu) SNV Uncertain significance 397618 rs1060499719 GRCh37: X:71870292-71870292
GRCh38: X:72650442-72650442
25 MT-ND4 NC_012920.1:m.11896C>G SNV Uncertain significance 370054 rs1057516065 GRCh37: MT:11896-11896
GRCh38: MT:11896-11896
26 ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) SNV Uncertain significance 99113 rs62654397 GRCh37: 1:94577093-94577093
GRCh38: 1:94111537-94111537
27 KIF24 Deletion Uncertain significance 243059 GRCh37: 9:34280042-34296294
GRCh38: 9:34280044-34296296
28 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33243C>G SNV Uncertain significance 461796 rs140274429 GRCh37: 11:63885468-63885468
GRCh38: 11:64117996-64117996
29 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33881C>T SNV Uncertain significance 565723 rs767022154 GRCh37: 11:63884830-63884830
GRCh38: 11:64117358-64117358
30 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33604C>A SNV Uncertain significance 566560 rs1395376914 GRCh37: 11:63885107-63885107
GRCh38: 11:64117635-64117635
31 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33719C>T SNV Uncertain significance 568577 rs769032516 GRCh37: 11:63884992-63884992
GRCh38: 11:64117520-64117520
32 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34898_517+34918del Deletion Uncertain significance 571356 rs1565240655 GRCh37: 11:63883793-63883813
GRCh38: 11:64116321-64116341
33 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33243C>T SNV Uncertain significance 575806 rs140274429 GRCh37: 11:63885468-63885468
GRCh38: 11:64117996-64117996
34 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34250T>A SNV Uncertain significance 577882 rs1565241569 GRCh37: 11:63884461-63884461
GRCh38: 11:64116989-64116989
35 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34535G>A SNV Uncertain significance 579757 rs756250929 GRCh37: 11:63884176-63884176
GRCh38: 11:64116704-64116704
36 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33906T>G SNV Uncertain significance 640772 rs1590933528 GRCh37: 11:63884805-63884805
GRCh38: 11:64117333-64117333
37 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34305T>C SNV Uncertain significance 643512 rs1590932597 GRCh37: 11:63884406-63884406
GRCh38: 11:64116934-64116934
38 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33198G>A SNV Uncertain significance 645543 rs375487485 GRCh37: 11:63885513-63885513
GRCh38: 11:64118041-64118041
39 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34236G>A SNV Uncertain significance 647420 rs756527574 GRCh37: 11:63884475-63884475
GRCh38: 11:64117003-64117003
40 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33328C>A SNV Uncertain significance 658157 rs1590934834 GRCh37: 11:63885383-63885383
GRCh38: 11:64117911-64117911
41 MED25 NM_030973.3(MED25):c.1086C>T (p.Pro362=) SNV Uncertain significance 689543 rs780086993 GRCh37: 19:50334129-50334129
GRCh38: 19:49830872-49830872
42 POLG NM_002693.2(POLG):c.2982G>C (p.Trp994Cys) SNV Uncertain significance 689545 rs1596350885 GRCh37: 15:89862581-89862581
GRCh38: 15:89319350-89319350
43 LMNA NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) SNV Uncertain significance 689547 rs1166140426 GRCh37: 1:156106117-156106117
GRCh38: 1:156136326-156136326
44 DYNC1H1 NM_001376.5(DYNC1H1):c.2539-10C>A SNV Uncertain significance 689550 rs1372571783 GRCh37: 14:102453780-102453780
GRCh38: 14:101987443-101987443
45 MED25 NM_030973.3(MED25):c.305+14C>G SNV Uncertain significance 689579 rs773627830 GRCh37: 19:50322567-50322567
GRCh38: 19:49819310-49819310
46 REEP1 NM_001371279.1(REEP1):c.789G>A (p.Pro263=) SNV Uncertain significance 694650 rs1373170665 GRCh37: 2:86444228-86444228
GRCh38: 2:86217105-86217105
47 KCNJ10 NM_002241.5(KCNJ10):c.967T>C (p.Tyr323His) SNV Uncertain significance 816536 rs1571265188 GRCh37: 1:160011356-160011356
GRCh38: 1:160041566-160041566
48 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34501G>T SNV Uncertain significance 842634 GRCh37: 11:63884210-63884210
GRCh38: 11:64116738-64116738
49 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+33197C>T SNV Uncertain significance 845837 GRCh37: 11:63885514-63885514
GRCh38: 11:64118042-64118042
50 FLRT1 , MACROD1 NM_014067.4(MACROD1):c.517+34527G>A SNV Uncertain significance 948270 GRCh37: 11:63884184-63884184
GRCh38: 11:64116712-64116712

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

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 mitochondrial fusion GO:0008053 8.62 SPG7 GDAP1

Sources for Peripheral Nervous System Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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