HSMN
MCID: MTR007
MIFTS: 41

Motor Peripheral Neuropathy (HSMN)

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Motor Peripheral Neuropathy

MalaCards integrated aliases for Motor Peripheral Neuropathy:

Name: Motor Peripheral Neuropathy 12 15
Peripheral Motor Neuropathy 12 6 70
Motor Neuritis 12 15
Hsmn - Hereditary Sensory and Motor Neuropathy 12
Hereditary Motor and Sensory Neuropathies 70
Hereditary Motor and Sensory Neuropathy 12
Hereditary Sensory and Motor Neuropathy 44
Neuropathic Muscular Atrophy 12
Hsmn 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2477 DOID:683
NCIt 50 C3500 C75467
SNOMED-CT 67 128202008 95663000
ICD10 32 G60.0
UMLS 70 C0027888 C0235025

Summaries for Motor Peripheral Neuropathy

MalaCards based summary : Motor Peripheral Neuropathy, also known as peripheral motor neuropathy, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, demyelinating, type 1d, and has symptoms including neurologic symptoms An important gene associated with Motor Peripheral Neuropathy is AGTPBP1 (ATP/GTP Binding Carboxypeptidase 1). The drugs Folic acid and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, lymph node and liver, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Motor Peripheral Neuropathy

Diseases related to Motor Peripheral Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1b 33.2 SH3TC2 PMP22 MFN2 LITAF GARS1
2 charcot-marie-tooth disease, demyelinating, type 1d 33.1 PMP22 LITAF GARS1
3 charcot-marie-tooth disease, axonal, type 2a1 33.1 MFN2 HSPB8
4 charcot-marie-tooth disease, demyelinating, type 1a 33.0 SH3TC2 PMP22 MFN2 MAG LITAF
5 charcot-marie-tooth disease, x-linked dominant, 1 33.0 SH3TC2 PMP22 MFN2 LITAF GARS1
6 charcot-marie-tooth disease, axonal, type 2b 32.8 SH3TC2 MFN2 LITAF HSPB8 GARS1
7 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 32.8 MFN2 LITAF
8 hereditary motor and sensory neuropathy, type iic 32.7 TRPV4 SH3TC2 PACSIN3 MFN2 HSPB8 GARS1
9 hypertrophic neuropathy of dejerine-sottas 32.7 SH3TC2 PMP22 MFN2 MAG LITAF HSPB8
10 charcot-marie-tooth disease type 2a2a 32.7 MFN2 IGHMBP2 DNAJB2
11 charcot-marie-tooth disease, demyelinating, type 1c 32.6 SH3TC2 PMP22 MFN2 LITAF HSPB8 GARS1
12 charcot-marie-tooth disease, x-linked recessive, 2 32.4 MFN2 LITAF BSCL2
13 charcot-marie-tooth disease, axonal, type 2b2 32.4 MFN2 HSPB8 GARS1 DNAJB2
14 charcot-marie-tooth disease, type 4b2 32.4 SH3TC2 MFN2 LITAF GARS1
15 charcot-marie-tooth disease, axonal, type 2t 32.3 ZFYVE26 SLC12A6 SH3TC2 IGHMBP2 DNAJB2
16 charcot-marie-tooth disease intermediate type 32.3 SH3TC2 MFN2 LITAF GARS1 DNAJB2
17 neuropathy, congenital hypomyelinating, 1, autosomal recessive 32.3 TRPV4 SLC12A6 SH3TC2 PMP22 MFN2 LITAF
18 charcot-marie-tooth disease and deafness 32.3 TRPV4 SH3TC2 PMP22 MFN2 MAG LITAF
19 charcot-marie-tooth disease, type 4a 32.2 SH3TC2 MFN2 LITAF HSPB8 GARS1
20 neuropathy, hereditary, with liability to pressure palsies 32.2 SH3TC2 PMP22 MFN2 MAG LITAF GARS1
21 hereditary neuropathies 32.2 SH3TC2 PMP22 MFN2 MAG DNAJB2
22 sensory peripheral neuropathy 32.2 SLC12A6 PMP22 MFN2 MAG LITAF
23 charcot-marie-tooth disease, axonal, type 2d 32.1 SH3TC2 PMP22 MFN2 HSPB8 GARS1 BSCL2
24 neuropathy, hereditary sensory and autonomic, type iia 31.8 TRPV4 SLC12A6 SH3TC2 SETX LITAF IGHMBP2
25 charcot-marie-tooth disease, axonal, type 2e 31.7 ZFYVE26 TRPV4 SPG11 SLC12A6 SH3TC2 PMP22
26 charcot-marie-tooth disease 31.4 TRPV4 SPG11 SLC12A6 SH3TC2 SETX REEP1
27 charcot-marie-tooth disease, axonal, type 2p 31.4 SLC12A6 LITAF DNAJB2
28 charcot-marie-tooth disease, type 4k 31.2 SH3TC2 LITAF
29 charcot-marie-tooth disease, axonal, type 2k 31.2 HSPB8 DNAJB2
30 charcot-marie-tooth disease, axonal, type 2i 31.2 SH3TC2 HSPB8 GARS1
31 charcot-marie-tooth disease, type 4b3 31.2 SH3TC2 PMP22
32 charcot-marie-tooth disease, axonal, type 2r 31.2 ZFYVE26 SLC12A6 DNAJB2
33 charcot-marie-tooth disease, demyelinating, type 4f 31.1 SH3TC2 LITAF
34 charcot-marie-tooth disease, demyelinating, type 1f 31.1 LITAF DCAF8
35 autosomal dominant intermediate charcot-marie-tooth 31.1 SH3TC2 IGHMBP2
36 charcot-marie-tooth disease, recessive intermediate a 31.0 MFN2 HSPB8
37 paraplegia 31.0 ZFYVE26 SPG11 REEP1 BSCL2
38 charcot-marie-tooth disease, axonal, type 2l 31.0 MFN2 HSPB8 GARS1 DCAF8 BSCL2
39 charcot-marie-tooth disease, dominant intermediate b 30.9 SH3TC2 LITAF
40 muscular atrophy 30.9 TRPV4 SH3TC2 SETX IGHMBP2 HSPB8 GARS1
41 spastic paraplegia 57, autosomal recessive 30.9 SPG11 REEP1
42 tooth disease 30.9 TRPV4 SPG11 SH3TC2 PMP22 MFN2 LITAF
43 spastic ataxia, charlevoix-saguenay type 30.8 SETX APTX
44 charcot-marie-tooth disease, axonal, type 2f 30.8 MFN2 LITAF HSPB8 GARS1 DCAF8 BSCL2
45 scapuloperoneal spinal muscular atrophy 30.7 TRPV4 PACSIN3 IGHMBP2 GARS1
46 axonal neuropathy 30.7 ZFYVE26 TRPV4 SPG11 SETX PMP22 MFN2
47 spastic paraplegia 55, autosomal recessive 30.6 ZFYVE26 SPG11 DNAJB2
48 mononeuropathy 30.5 SH3TC2 PMP22 MAG DCAF8
49 spastic ataxia 30.5 SPG11 SETX APTX
50 motor neuron disease 30.5 TRPV4 SH3TC2 SETX MFN2 MAG GARS1

Graphical network of the top 20 diseases related to Motor Peripheral Neuropathy:



Diseases related to Motor Peripheral Neuropathy

Symptoms & Phenotypes for Motor Peripheral Neuropathy

UMLS symptoms related to Motor Peripheral Neuropathy:


neurologic symptoms

GenomeRNAi Phenotypes related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.5 HSPB8
2 Decreased viability GR00221-A-1 9.5 HSPB8
3 Decreased viability GR00221-A-2 9.5 PACSIN3
4 Decreased viability GR00221-A-4 9.5 HSPB8
5 Decreased viability GR00249-S 9.5 AGTPBP1 SH3TC2 TRPV4
6 Decreased viability GR00301-A 9.5 HSPB8
7 Decreased viability GR00381-A-1 9.5 SH3TC2
8 Decreased viability GR00386-A-1 9.5 SETX ZFYVE26
9 Decreased viability GR00402-S-2 9.5 GARS1 SETX SLC12A6 ZFYVE26

MGI Mouse Phenotypes related to Motor Peripheral Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 AGTPBP1 BSCL2 DNAJB2 GARS1 HSPB8 IGHMBP2
2 cellular MP:0005384 10.22 AGTPBP1 APTX BSCL2 HSPB8 IGHMBP2 LITAF
3 homeostasis/metabolism MP:0005376 10.17 AGTPBP1 APTX BSCL2 DCAF8 HSPB8 IGHMBP2
4 nervous system MP:0003631 10.03 AGTPBP1 BSCL2 GARS1 HSPB8 IGHMBP2 LITAF
5 muscle MP:0005369 9.91 AGTPBP1 GARS1 HSPB8 IGHMBP2 MFN2 PMP22
6 hearing/vestibular/ear MP:0005377 9.85 AGTPBP1 MAG PMP22 SLC12A6 TRPV4 ZFYVE26
7 skeleton MP:0005390 9.65 APTX BSCL2 GARS1 IGHMBP2 MAG MFN2
8 vision/eye MP:0005391 9.28 AGTPBP1 APTX BSCL2 IGHMBP2 PMP22 SETX

Drugs & Therapeutics for Motor Peripheral Neuropathy

Drugs for Motor Peripheral Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Vitamins Phase 4
3 Trace Elements Phase 4
4 Nutrients Phase 4
5 Micronutrients Phase 4
6 Protective Agents Phase 4
7 Antioxidants Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Ethanol Approved Phase 3 64-17-5 702
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
19 Pharmaceutical Solutions Phase 3
20 carnitine Phase 2, Phase 3
21 Nootropic Agents Phase 2, Phase 3
22 Gastrointestinal Agents Phase 3
23 Narcotics Phase 3
24 Neurotransmitter Agents Phase 3
25 Cathartics Phase 3
26 GABA Agonists Phase 3
27 Laxatives Phase 3
28 Narcotic Antagonists Phase 3
29 Neuroprotective Agents Phase 2, Phase 3
30 Epoetin alfa Phase 2, Phase 3 113427-24-0
31 Hematinics Phase 2, Phase 3
32
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
33
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
34
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
35 Vitamin B7 Phase 2
36 Ubiquinone Phase 1, Phase 2
37 Ulipristal acetate Phase 2 126784-99-4
38
Iron Approved 7439-89-6 23925 29936
39
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
40
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
41 Analgesics
42 Calciferol
43 Calcium, Dietary
44 insulin
45 Hemostatics
46 Insulin, Globin Zinc
47 Immunosuppressive Agents
48 Immunologic Factors
49
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
6 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
7 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
10 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
11 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
12 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
13 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
14 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
15 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
16 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
17 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
18 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
19 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
20 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
21 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
24 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
25 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
26 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
27 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
28 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
29 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
30 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
31 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
32 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
33 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
34 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
35 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
36 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
37 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
38 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
39 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
40 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Completed NCT03966287
41 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
42 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
43 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
44 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
45 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
46 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
47 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
48 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
49 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
50 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038

Search NIH Clinical Center for Motor Peripheral Neuropathy

Cochrane evidence based reviews: hereditary sensory and motor neuropathy

Genetic Tests for Motor Peripheral Neuropathy

Anatomical Context for Motor Peripheral Neuropathy

MalaCards organs/tissues related to Motor Peripheral Neuropathy:

40
Spinal Cord, Lymph Node, Liver, Breast, Prostate

Publications for Motor Peripheral Neuropathy

Articles related to Motor Peripheral Neuropathy:

(show top 50) (show all 115)
# Title Authors PMID Year
1
The course of peripheral neuropathy and its association with health-related quality of life among colorectal cancer patients. 61
33185839 2021
2
Acrylamide-induced peripheral neuropathy: manifestations, mechanisms, and potential treatment modalities. 61
33484463 2021
3
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. 61
33417887 2021
4
Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy. 61
33716932 2021
5
Clinical and Genome-Wide Analysis of Multiple Severe Cisplatin-Induced Neurotoxicities in Adult-Onset Cancer Survivors. 61
32998964 2020
6
Update on Neurological Manifestations of SARS-CoV-2. 61
33052822 2020
7
Cryotherapy for the prevention of weekly paclitaxel-induced peripheral adverse events in breast cancer patients. 61
32036471 2020
8
Epigenetic Age Acceleration and Chronic Health Conditions among Adult Survivors of Childhood Cancer. 61
32970815 2020
9
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 61
32281099 2020
10
Chemotherapy-induced peripheral neuropathy among patients with ovarian cancer. 61
32133643 2020
11
COVID 19 infection presenting as motor peripheral neuropathy. 61
32354690 2020
12
Acute Peripheral Motor Neuropathy Induced by Oxaliplatin-Correlated Hypokalaemia. 61
32700068 2020
13
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. 61
30690205 2020
14
Correlation between immune-related adverse events and prognosis in patients with gastric cancer treated with nivolumab. 61
31638948 2019
15
Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review. 61
31407119 2019
16
Polyneuropathy Associated with Severe Iron Overload and Oxidative Stress in β-Thalassemia Patients. 61
31388267 2019
17
6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). 61
30718023 2019
18
A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy. 61
30210107 2019
19
Dichloroacetate-induced peripheral neuropathy. 61
31208525 2019
20
Guillain Barré syndrome associated with bladder instillation of Bacille Calmette Guérin (BCG). 61
30323939 2018
21
Course of chemotherapy-induced peripheral neuropathy and its impact on health-related quality of life among ovarian cancer patients: A longitudinal study. 61
29605500 2018
22
A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy. 61
28762097 2018
23
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia. 61
29524657 2018
24
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. 61
30083128 2018
25
Neurotoxic side effects in children with refractory or relapsed T-cell malignancies treated with nelarabine based therapy. 61
28771662 2017
26
Balance in children with acute lymphoblastic leukemia. 61
27543960 2017
27
Best practice guidelines on first-line laboratory testing for porphyria. 61
27555665 2017
28
Wernicke's encephalopathy due to hyperemesis gravidarum: Clinical and magnetic resonance imaging characteristics. 61
27763485 2016
29
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. 61
27485015 2016
30
Hepatitis C virus and neurological damage. 61
27134702 2016
31
A Phase II Study of Coltuximab Ravtansine (SAR3419) Monotherapy in Patients With Relapsed or Refractory Acute Lymphoblastic Leukemia. 61
26775883 2016
32
The Efficacy of Low-Dose Paclitaxel Added to Combination Chemotherapy of Carboplatin and Gemcitabine or Pegylated Liposomal Doxorubicin. 61
26807640 2016
33
Diagnostic signs of motor neuropathy in MR neurography: nerve lesions and muscle denervation. 61
25433411 2015
34
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. 61
25318446 2015
35
Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy. 61
25491744 2014
36
Peripheral neuropathies of rheumatologic disease and gluten-related disorders. 61
25369437 2014
37
Differential diagnosis of amyotrophic lateral sclerosis from Guillain-Barré syndrome by quantitative determination of TDP-43 in cerebrospinal fluid. 61
24066851 2014
38
Retreatment with brentuximab vedotin in patients with CD30-positive hematologic malignancies. 61
24642247 2014
39
Decreased excitability of the distal motor nerve of young patients with type 1 diabetes mellitus. 61
23710907 2013
40
Severe peripheral motor neuropathy in a patient with Hodgkin lymphoma treated with brentuximab vedotin. 61
23391144 2013
41
Osteomalacia induced peripheral neuropathy after obesity reduction surgery. 61
24339611 2013
42
Paralysis following stereotactic spinal irradiation in pigs suggests a tolerance constraint for single-session irradiation of the spinal nerve. 61
24060168 2013
43
Insulin-ameliorated peripheral motor neuropathy in spontaneously diabetic WBN/Kob rats. 61
23748976 2013
44
A phase 1 study of KOS-862 (Epothilone D) co-administered with carboplatin (Paraplatin®) in patients with advanced solid tumors. 61
21826439 2012
45
Central nervous system vasculitis and polyneuropathy as first manifestations of hepatitis C. 61
22253526 2012
46
Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders. 61
22269647 2012
47
Development of POEMS syndrome after an initial manifestation of solitary plasmacytoma. 61
21553018 2011
48
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice. 61
21220016 2011
49
Weekly bortezomib in combination with temsirolimus in relapsed or relapsed and refractory multiple myeloma: a multicentre, phase 1/2, open-label, dose-escalation study. 61
21345726 2011
50
The prevalence of peripheral neuropathy in a population-based study of patients with type 2 diabetes in Sweden. 61
20488731 2011

Variations for Motor Peripheral Neuropathy

ClinVar genetic disease variations for Motor Peripheral Neuropathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGTPBP1 NM_015239.2(AGTPBP1):c.2066+2T>G SNV Likely pathogenic 599379 rs1564069807 GRCh37: 9:88234128-88234128
GRCh38: 9:85619213-85619213
2 MYH14 NM_001145809.2(MYH14):c.1945+6G>A SNV Uncertain significance 374064 rs1057518869 GRCh37: 19:50756016-50756016
GRCh38: 19:50252759-50252759
3 INF2 NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly) SNV Uncertain significance 523532 rs1555375554 GRCh37: 14:105180746-105180746
GRCh38: 14:104714409-104714409

Expression for Motor Peripheral Neuropathy

Search GEO for disease gene expression data for Motor Peripheral Neuropathy.

Pathways for Motor Peripheral Neuropathy

GO Terms for Motor Peripheral Neuropathy

Cellular components related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 ZFYVE26 SPG11 SETX REEP1 PACSIN3 MAG
2 axon GO:0030424 9.02 SPG11 SETX IGHMBP2 GARS1 AGTPBP1

Biological processes related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell volume homeostasis GO:0006884 9.16 TRPV4 SLC12A6
2 cellular hypotonic response GO:0071476 8.96 TRPV4 SLC12A6
3 cellular hypotonic salinity response GO:0071477 8.62 TRPV4 SLC12A6

Molecular functions related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 8.92 ZFYVE26 TRPV4 PACSIN3 MAG

Sources for Motor Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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