Peripheral Nervous System Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRP019 MIFTS: 63	Peripheral Nervous System Disease Categories: Immune diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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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

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Other disorders of peripheral nervous system

ICD11: ³³

Diseases of the nervous system

Nutritional or toxic disorders of the nervous system

Neurological disorders due to an excess of micro or macro nutrients

Peripheral neuropathy due to vitamin B6 hyperalimentation

External Ids:

Disease Ontology ¹¹ DOID:574

NCIt ⁴⁹ C119734 C27587

ICD10 ³¹ G64

EFO ¹⁶ EFO_0003100 EFO_0009387

ICD11 ³³ 378925042

UMLS ⁷¹ C0031117 C1335029

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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...

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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:

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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:

²⁵

#	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:

⁴⁵

#	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

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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

Immunoglobulins, Intravenous

Phase 4

gamma-Globulins

Phase 4

Rho(D) Immune Globulin

Phase 4

Antihypertensive Agents

Phase 4

Narcotics

Phase 4

Vitamin B6

Phase 4

Vitamin B 6

Phase 4

Calciferol

Phase 4

Antiemetics

Phase 4

Gastrointestinal Agents

Phase 4

Bronchodilator Agents

Phase 4

Anti-Asthmatic Agents

Phase 4

Epinephryl borate

Phase 4

Adrenergic beta-Agonists

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Vasoconstrictor Agents

Phase 4

Mydriatics

Phase 4

Sympathomimetics

Phase 4

Angiotensin-Converting Enzyme Inhibitors

Phase 4

HIV Protease Inhibitors

Phase 4

protease inhibitors

Phase 4

Narcotic Antagonists

Phase 4

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

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

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Genetic Tests for Peripheral Nervous System Disease

Genetic tests related to Peripheral Nervous System Disease:

#	Genetic test	Affiliating Genes
1	Peripheral Neuropathy ²⁸

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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

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Publications for Peripheral Nervous System Disease

Articles related to Peripheral Nervous System Disease:

(show top 50) (show all 21726)

#	Title	Authors	PMID	Year
1	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. ⁶² ⁵	Gonzaga-Jauregui C...Lupski JR	26257172	2015
2	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	Schwartzentruber J...Samuels ME	25130867	2014
3	Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. ⁶² ⁵	Goizet C...Brice A	18853458	2009
4	Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. ⁵	Weterman MAJ...Baas F	30124830	2018
5	NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. ⁵	Caglayan AO...Gunel M	25220016	2015
6	Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. ⁵	Liu YT...Houlden H	25008398	2014
7	Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. ⁵	Crimella C...Bassi MT	21623771	2012
8	Transection injury differentially alters the proteome of the human sural nerve. ⁴¹	Chau MJ...van Horne CG	36417411	2022
9	New horizons of biomaterials in treatment of nerve damage in diabetes mellitus: A translational prospective review. ⁴¹	Raghav A...Kala S	36387914	2022
10	Cutaneous expression of growth-associated protein 43 is not a compelling marker for human nerve regeneration in carpal tunnel syndrome. ⁴¹	Carroll L...Schmid A	36383568	2022
11	Hydrogen exerts neuroprotective effects by inhibiting oxidative stress in experimental diabetic peripheral neuropathy rats. ⁶²	Han XC...Fan DF	36204786	2023
12	Towards a mechanistic understanding of axon transport and endocytic changes underlying paclitaxel-induced peripheral neuropathy. ⁶²	Shin GJ	36279934	2023
13	Investigating the synergistic role of heavy metals in Arsenic-induced skin lesions in West Bengal, India. ⁶²	Banerjee S...Bhattacharjee P	36435151	2023
14	A new self-understanding as chemo sufferer - a phenomenological study of everyday life with chemotherapy induced neuropathy among survivors after colorectal cancer. ⁶²	Jensen MA...Pedersen B	35315728	2022
15	Improving indicator-condition guided testing for HIV in the hospital setting (PROTEST 2·0): A multicenter, interrupted time-series analysis. ⁶²	Bogers SJ...HIV Transmission Elimination AMsterdam (H-TEAM) Initiative	36246146	2022
16	Inhibition of glutamatergic neurons in layer II/III of the medial prefrontal cortex alleviates paclitaxel-induced neuropathic pain and anxiety. ⁶²	Cao J...Wang XL	36309050	2022
17	ThermoTRP channels in pain sexual dimorphism: new insights for drug intervention. ⁶²	Cabanero D...Ferrer-Montiel A	36202261	2022
18	Pharmacological management of cancer pain: Novel therapeutics. ⁶²	Virgen CG...Kaye AD	36272265	2022
19	Morphological and Mechanical Properties of Lower-Limb Muscles in Type 2 Diabetes: New Potential Imaging Indicators for Monitoring the Progress of DPN. ⁶²	Zurong Y...Junkun Z	36125913	2022
20	Association of Peripheral Serum MicroRNAs With Persistent Phantom Limb Pain in Individuals With Amputation. ⁶²	Bhomia M...Knollmann-Ritschel B	35701872	2022
21	Periodontal ligaments enhance neurite outgrowth in trigeminal ganglion neurons through Wnt5a production induced by mechanical stimulation. ⁶²	Takahashi K...Wakamori M	36374171	2022
22	Chemotherapy in patients with early breast cancer: clinical overview and management of long-term side effects. ⁶²	Di Nardo P...Puglisi F	36469577	2022
23	Effects of Lunar Phases on Foot Temperature, Oxidative Stress, and Inflammation in Type 2 Diabetic Subjects. ⁶²	Bhattacharjee K...Mondal LK	36475336	2022
24	Epimedin B exerts neuroprotective effect against MPTP-induced mouse model of Parkinson's disease: GPER as a potential target. ⁶²	Zhang M...Chen WF	36411637	2022
25	Reproducibility and Reliability of Subbasal Corneal Nerve Parameters of the Inferior Whorl in the Neurotoxic and Healthy Cornea. ⁶²	Chiang JCB...Markoulli M	36155558	2022
26	Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion. ⁶²	Snavely AR...Woolf CJ	36398590	2022
27	Konzepte der Sturzrisikoabschätzung bei neurogeriatrischen Patienten. ⁶²	Mohwald K...Schniepp R	36459999	2022
28	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	Oliveira HR...Duarte DB	36228751	2022
29	Emerging roles of toll-like receptor 4 in chemotherapy-induced neurotoxicity. ⁶²	Oo TT...Chattipakorn SC	36152729	2022
30	Role of inflammation and oxidative stress in chemotherapy-induced neurotoxicity. ⁶²	Gupta P...Pahuja M	35859244	2022
31	Higher systemic inflammatory status and cardiovascular risk associated with Charcot arthropathy unrelated to infection or extremity amputation. ⁶²	de Vasconcelos JC...Parisi MCR	36404847	2022
32	Hyperglycemia, symptoms, and symptom clusters in colorectal cancer survivors with type 2 diabetes. ⁶²	Storey S...Von Ah D	36376764	2022
33	Ketogenic diet prevents methylglyoxal-evoked nociception by scavenging methylglyoxal. ⁶²	Enders JD...Wright DE	35500286	2022
34	Comparison of the diagnostic accuracy of the 2021 EAN/PNS and 2010 EFNS/PNS diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy. ⁶²	Doneddu PE...Nobile-Orazio E	36190959	2022
35	Magnolol effectively ameliorates diabetic peripheral neuropathy in mice. ⁶²	Yang J...Shen X	36122436	2022
36	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	Mert T...Sahin M	32633145	2022
37	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	Goyat M...Goyal M	36404825	2022
38	A global survey on the utilization of cryotherapy and compression therapy for the prevention of chemotherapy-induced peripheral neuropathy. ⁶²	Chan A...Lustberg M	36214880	2022
39	Pterostilbene improves CFA-induced arthritis and peripheral neuropathy through modulation of oxidative stress, inflammatory cytokines and neurotransmitters in Wistar rats. ⁶²	Amin A...Sohail MF	36138303	2022
40	PHARMACIST-LEAD SCREENING FOR DIABETIC PERIPHERAL NEUROPATHY USING MICHIGAN NEUROPATHY SCREENING INSTRUMENT (MNSI). ⁶²	Matalqah LM...Radaideh KM	36458560	2022
41	The effect of exercise therapy on balance in patients with diabetic peripheral neuropathy: a systematic review. ⁶²	Akbari NJ...Naimi SS	36404857	2022
42	Diagnostic accuracy of nerve ultrasonography for the detection of peripheral neuropathy in type 2 diabetes. ⁶²	Dhanapalaratnam R...Krishnan AV	36039540	2022
43	Identifying participants' preferences for modifiable chemotherapy-induced peripheral neuropathy prevention clinical trial factors: an adaptive choice-based conjoint analysis. ⁶²	Knoerl R...Gewandter JS	36355216	2022
44	Peripheral neuropathy, protein aggregation and serotonergic neurotransmission: Distinctive bio-interactions of thiacloprid and thiamethoxam in the nematode Caenorhabditis elegans. ⁶²	Scharpf I...von Mikecz A	36155223	2022
45	NET-Triggered NLRP3 Activation and IL18 Release Drive Oxaliplatin-Induced Peripheral Neuropathy. ⁶²	Lin T...Liu WT	36255412	2022
46	Veratramine ameliorates pain symptoms in rats with diabetic peripheral neuropathy by inhibiting activation of the SIGMAR1-NMDAR pathway. ⁶²	Zhang Y...Lin C	36373991	2022
47	Sensitivity and specificity of high frequency ultrasound score (DCEC) in diabetic peripheral neuropathy. ⁶²	Huang H...Wu S	36404810	2022
48	Emerging Approaches for the Management of Chemotherapy-Induced Peripheral Neuropathy (CIPN): Therapeutic Potential of the C5a/C5aR Axis. ⁶²	Spera MC...Allegretti M	36098939	2022
49	Polygenic risk of paclitaxel-induced peripheral neuropathy: a genome-wide association study. ⁶²	Hooshmand K...Kwok JB	36474270	2022
50	Neurological complications in pediatric liver transplant recipients. ⁶²	Menon J...Rela M	35959774	2022

Sources

Genes for Peripheral Nervous System Disease

Genes related to Peripheral Nervous System Disease (15 elite genes):

(show top 50) (show all 410)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GJB1	Gap Junction Protein Beta 1	Protein Coding	433.25	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
2	MFN2	Mitofusin 2	Protein Coding	433.11	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	NEFL	Neurofilament Light Chain	Protein Coding	432.79	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	GDAP1	Ganglioside Induced Differentiation Associated Protein 1	Protein Coding	432.75	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
5	PRX	Periaxin	Protein Coding	431.9	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
6	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	431.49	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
7	HINT1	Histidine Triad Nucleotide Binding Protein 1	Protein Coding	430.25	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	429.95	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	406.42	Pathogenic ⁵ DISEASES inferred ¹⁴
10	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	406.3	Pathogenic ⁵ DISEASES inferred ¹⁴
11	BAG3	BAG Cochaperone 3	Protein Coding	406.12	Pathogenic ⁵ DISEASES inferred ¹⁴
12	IARS2	Isoleucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	404.79	Pathogenic ⁵ DISEASES inferred ¹⁴	25130867
13	HFE	Homeostatic Iron Regulator	Protein Coding	404.64	Pathogenic ⁵ DISEASES inferred ¹⁴
14	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	404.1	Pathogenic ⁵ DISEASES inferred ¹⁴
15	HNRNPUL2-BSCL2	HNRNPUL2-BSCL2 Readthrough (NMD Candidate)	RNA Gene	400	Pathogenic ⁵
16	MPZ	Myelin Protein Zero	Protein Coding	33.48	Likely pathogenic ⁵ DISEASES inferred ¹⁴
17	PMP22	Peripheral Myelin Protein 22	Protein Coding	33.22	Likely pathogenic ⁵ DISEASES inferred ¹⁴
18	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	32.23	Likely pathogenic ⁵ DISEASES inferred ¹⁴
19	LMNA	Lamin A/C	Protein Coding	32.19	Likely pathogenic ⁵ DISEASES inferred ¹⁴
20	GAN	Gigaxonin	Protein Coding	31.95	Likely pathogenic ⁵ DISEASES inferred ¹⁴
21	AARS1	Alanyl-TRNA Synthetase 1	Protein Coding	31.58	Likely pathogenic ⁵ DISEASES inferred ¹⁴	30124830
22	MME	Membrane Metalloendopeptidase	Protein Coding	31.49	Likely pathogenic ⁵ DISEASES inferred ¹⁴
23	KIF5A	Kinesin Family Member 5A	Protein Coding	31.4	Likely pathogenic ⁵ DISEASES inferred ¹⁴	18853458 21623771 25008398
24	SLC12A6	Solute Carrier Family 12 Member 6	Protein Coding	31.33	Likely pathogenic ⁵ DISEASES inferred ¹⁴
25	SORD	Sorbitol Dehydrogenase	Protein Coding	31.24	Likely pathogenic ⁵ DISEASES inferred ¹⁴
26	PMP2	Peripheral Myelin Protein 2	Protein Coding	31.13	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26257172
27	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	30.36	Likely pathogenic ⁵ DISEASES inferred ¹⁴
28	NGLY1	N-Glycanase 1	Protein Coding	30.04	Likely pathogenic ⁵ DISEASES inferred ¹⁴	25220016
29	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	30.02	Likely pathogenic ⁵ DISEASES inferred ¹⁴
30	SPTLC3	Serine Palmitoyltransferase Long Chain Base Subunit 3	Protein Coding	29.6	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26257172
31	DNAJB5	DnaJ Heat Shock Protein Family (Hsp40) Member B5	Protein Coding	28.73	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26257172
32	H2AC18	H2A Clustered Histone 18	Protein Coding	11.33	DISEASES inferred ¹⁴ ¹⁴
33	MIR9-1	MicroRNA 9-1	RNA Gene	10.42	DISEASES inferred ¹⁴ ¹⁴
34	MIR21	MicroRNA 21	RNA Gene	10.37	DISEASES inferred ¹⁴ ¹⁴
35	CRYAA	Crystallin Alpha A	Protein Coding	10.04	DISEASES inferred ¹⁴ ¹⁴
36	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	9.97	DISEASES inferred ¹⁴ ¹⁴
37	MIR17	MicroRNA 17	RNA Gene	9.92	DISEASES inferred ¹⁴ ¹⁴
38	MIR34A	MicroRNA 34a	RNA Gene	9.84	DISEASES inferred ¹⁴ ¹⁴
39	MIR380	MicroRNA 380	RNA Gene	9.78	DISEASES inferred ¹⁴ ¹⁴
40	SERPINA3	Serpin Family A Member 3	Protein Coding	9.7	DISEASES inferred ¹⁴ ¹⁴
41	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.6	DISEASES inferred ¹⁴ ¹⁴
42	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	9.53	DISEASES inferred ¹⁴
43	MIR542	MicroRNA 542	RNA Gene	9.52	DISEASES inferred ¹⁴ ¹⁴
44	MIR199A1	MicroRNA 199a-1	RNA Gene	9.5	DISEASES inferred ¹⁴ ¹⁴
45	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.48	DISEASES inferred ¹⁴ ¹⁴
46	MIR146A	MicroRNA 146a	RNA Gene	9.48	DISEASES inferred ¹⁴ ¹⁴
47	MIR338	MicroRNA 338	RNA Gene	9.41	DISEASES inferred ¹⁴ ¹⁴
48	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	9.39	DISEASES inferred ¹⁴ ¹⁴
49	MIR145	MicroRNA 145	RNA Gene	9.32	DISEASES inferred ¹⁴ ¹⁴
50	MIR126	MicroRNA 126	RNA Gene	9.25	DISEASES inferred ¹⁴ ¹⁴

Sources

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:

⁶

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

Sources

Expression for Peripheral Nervous System Disease

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

Sources

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	Neural crest differentiation ⁷⁴	11.34	PMP22 MPZ GJB1
2	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.58	PRX PMP22 MPZ
3	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.53	SH3TC2 PMP22 NEFL MPZ MFN2 GDAP1