HSMN
MCID: MTR007
MIFTS: 38

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 73
Motor Neuritis 12 15
Hsmn - Hereditary Sensory and Motor Neuropathy 12
Neuropathy, Motor and Sensory, Hereditary 40
Hereditary Motor and Sensory Neuropathies 73
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
ICD10 33 G60.0
NCIt 50 C75467 C3500
SNOMED-CT 68 95663000

Summaries for Motor Peripheral Neuropathy

MalaCards based summary : Motor Peripheral Neuropathy, also known as peripheral motor neuropathy, is related to charcot-marie-tooth disease, x-linked dominant, 1 and charcot-marie-tooth disease, axonal, type 2a1, and has symptoms including neurologic symptoms An important gene associated with Motor Peripheral Neuropathy is SLC12A6 (Solute Carrier Family 12 Member 6), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Lidocaine and Gabapentin have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are behavior/neurological and cellular

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 159)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 1 33.4 GJB1 MPZ PMP22
2 charcot-marie-tooth disease, axonal, type 2a1 33.3 KIF1B MFN2
3 charcot-marie-tooth disease, demyelinating, type 1b 33.2 GJB1 KIF1B MPZ MTMR2 PMP22
4 hypertrophic neuropathy of dejerine-sottas 33.0 GJB1 KIF1B MPZ MTMR2 PMP22
5 charcot-marie-tooth disease, demyelinating, type 1c 33.0 GJB1 KIF1B MPZ PMP22
6 hereditary motor and sensory neuropathy, type iic 33.0 GJB1 KIF1B MFN2 MPZ NDRG1 TFG
7 charcot-marie-tooth disease, axonal, type 2b 32.8 GJB1 KIF1B MPZ PMP22
8 roussy-levy hereditary areflexic dystasia 32.7 MPZ PMP22
9 charcot-marie-tooth disease, type 4d 32.6 GJB1 MFN2 NDRG1
10 charcot-marie-tooth disease, demyelinating, type 1a 32.6 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
11 charcot-marie-tooth disease, axonal, type 2d 32.2 GJB1 KIF1B MPZ PMP22
12 neuropathy - hereditary 32.2 MPZ PMP22
13 charcot-marie-tooth disease 32.2 GJB1 KIF1B MFN2 MPZ MTMR2 NDRG1
14 charcot-marie-tooth disease and deafness 32.1 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
15 charcot-marie-tooth disease type 2a 32.0 KIF1B MFN2
16 charcot-marie-tooth disease, demyelinating, type 1d 32.0 GJB1 KIF1B MPZ MTMR2 NDRG1 PMP22
17 neuropathy, hereditary, with liability to pressure palsies 31.9 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
18 charcot-marie-tooth disease, axonal, type 2e 31.8 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
19 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 31.7 DCAF8 GJB1 KIF1B MFN2 MPZ MTMR2
20 charcot-marie-tooth disease, axonal, type 2i 31.0 KIF1B MPZ
21 charcot-marie-tooth disease, axonal, type 2j 31.0 KIF1B MPZ
22 charcot-marie-tooth disease, axonal, type 2l 30.9 KIF1B MPZ
23 charcot-marie-tooth disease, demyelinating, type 1f 30.8 GJB1 MPZ PMP22
24 charcot-marie-tooth disease, axonal, type 2f 30.8 GJB1 KIF1B MPZ
25 sensory peripheral neuropathy 30.6 GJB1 MFN2 MPZ MTMR2 NDRG1 PMP22
26 charcot-marie-tooth disease, axonal, type 2k 30.6 KIF1B MFN2
27 axonal neuropathy 29.8 DCAF8 MFN2 PMP22
28 tooth disease 29.7 GJB1 KIF1B MFN2 MPZ MTMR2 NDRG1
29 neuritis 29.6 MPZ PMP22
30 neuropathy 29.5 GJB1 MFN2 MPZ PMP22 SLC12A6 TFG
31 peripheral nervous system disease 29.2 GJB1 KIF1B MFN2 MPZ MTMR2 PMP22
32 hereditary motor and sensory neuropathy v 12.8
33 hereditary motor and sensory neuropathy with acrodystrophy 12.6
34 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.5
35 neuropathy, hereditary motor and sensory, okinawa type 12.4
36 gdap1-related hereditary motor and sensory neuropathy 12.4
37 neuropathy, hereditary motor and sensory, type via 12.4
38 neuropathy, hereditary motor and sensory, russe type 12.3
39 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 12.2
40 agenesis of the corpus callosum with peripheral neuropathy 12.0
41 x-linked charcot-marie-tooth disease 11.9
42 neuropathy, hereditary motor and sensory, type vib 11.9
43 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.9
44 charcot-marie-tooth disease, axonal, type 2b1 11.7
45 charcot-marie-tooth disease, axonal, type 2b2 11.7
46 refsum disease, classic 11.7
47 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.7
48 giant axonal neuropathy 2, autosomal dominant 11.7
49 charcot-marie-tooth disease, axonal, type 2t 11.7
50 charcot-marie-tooth disease type 2a2 11.7

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

MGI Mouse Phenotypes related to Motor Peripheral Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 GJB1 KIF1B MFN2 MPZ MTMR2 NDRG1
2 cellular MP:0005384 9.87 GJB1 MFN2 MPZ NDRG1 PMP22 SLC12A6
3 growth/size/body region MP:0005378 9.86 GJB1 KIF1B MFN2 MTMR2 NDRG1 PMP22
4 mortality/aging MP:0010768 9.76 GJB1 KIF1B MFN2 MPZ MTMR2 NDRG1
5 muscle MP:0005369 9.43 KIF1B MFN2 NDRG1 PMP22 SLC12A6 TARDBP
6 nervous system MP:0003631 9.28 GJB1 KIF1B MFN2 MPZ MTMR2 NDRG1

Drugs & Therapeutics for Motor Peripheral Neuropathy

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

(show top 50) (show all 162)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
2
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Donepezil Approved Phase 4 120014-06-4 3152
5
Norepinephrine Approved Phase 4 51-41-2 439260
6
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
10 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
11 Antioxidants Phase 4,Phase 2,Phase 3
12 Vitamin B9 Phase 4,Phase 2,Phase 3
13 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
14 Thioctic Acid Phase 4,Phase 2
15 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
16 Alpha-lipoic Acid Phase 4,Phase 2
17 Protective Agents Phase 4,Phase 2,Phase 3
18 Folate Phase 4,Phase 2,Phase 3
19 Vitamin B Complex Phase 4,Phase 2,Phase 3
20 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
22 Excitatory Amino Acid Antagonists Phase 4,Phase 3
23 Calcium, Dietary Phase 4,Phase 2
24 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
25 Tranquilizing Agents Phase 4,Phase 3,Phase 2
26 Psychotropic Drugs Phase 4,Phase 3,Phase 2
27 Antidepressive Agents Phase 4,Phase 3
28 Anti-Anxiety Agents Phase 4,Phase 2
29 Cholinergic Agents Phase 4,Phase 2,Phase 3
30 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
31 Nootropic Agents Phase 4,Phase 2,Phase 3
32 calcium channel blockers Phase 4,Phase 2
33 Excitatory Amino Acids Phase 4,Phase 3
34 Anticonvulsants Phase 4,Phase 2
35 Anti-Arrhythmia Agents Phase 4,Phase 2
36 Anti-Inflammatory Agents Phase 4,Phase 2
37 Diuretics, Potassium Sparing Phase 4,Phase 2
38 Anesthetics Phase 4,Phase 3,Not Applicable
39 Sodium Channel Blockers Phase 4,Phase 2
40 Hormone Antagonists Phase 4,Phase 2,Phase 3
41 Immunosuppressive Agents Phase 4,Phase 2
42 Hormones Phase 4,Phase 2,Phase 3
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
44 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
45 GABA Agents Phase 4
46 Cholinesterase Inhibitors Phase 4
47 Antimanic Agents Phase 4
48 Duloxetine Hydrochloride Phase 4
49 Antiparkinson Agents Phase 4
50 Dopamine Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Three Way Interaction Between Gabapentin, Duloxetine, and Donepezil in Patients With Diabetic Neuropathy Terminated NCT00619983 Phase 4 donepezil;duloxetine;donepezil 2.5 mg and duloxetine 30mg;placebo;gabapentin
3 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
4 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
5 Phase III Clinical Trial of NPB-01maintenance Therapy in Patients With Multifocal Motor Neuropathy. Completed NCT01827072 Phase 3 NPB-01
6 Study of the Effectiveness of Intravenous Immune Globulin (10%) for the Treatment of Multifocal Motor Neuropathy Completed NCT00666263 Phase 3
7 LIME Study (LFB IVIg MMN Efficacy Study) Completed NCT01951924 Phase 3 Biological : I10E (Human normal Immunoglobulin for intravenous administration 100mg/mL);Biological: Kiovig® (Human normal Immunoglobulin for intravenous administration 100mg/mL)
8 Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer Completed NCT00369564 Phase 3 glutamic acid
9 Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00516503 Phase 3 baclofen/amitriptyline/ketamine gel
10 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
11 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
12 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
13 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
14 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
15 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
16 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
17 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
18 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
19 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
20 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
21 Subcutaneous Immunoglobulin Treatment for Multifocal Motor Neuropathy Completed NCT00268788 Phase 2 Subcutaneous immunoglobulin;Intravenous immunoglobulin
22 Efficacy and Safety of HyQvia (Immunoglobulin 10% With Recombinant Hyaluronidase) in Multifocal Motor Neuropathy (MMN) Completed NCT02556437 Phase 2 HyQvia;Subcuvia
23 A Study of Purified Human Antibodies Administered Subcutaneously to Patients With Multifocal Motor Neuropathy (MMN) Completed NCT00701662 Phase 2
24 Neotrofin for Treatment of Chemotherapy-Induced Peripheral Neuropathy Completed NCT00041795 Phase 2 leteprinim potassium (Neotrofin)
25 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
26 Pregabalin in Preventing Acute Pain Syndrome in Patients Receiving Paclitaxel Completed NCT01637077 Phase 2 pregabalin;placebo
27 Efficacy and Safety of TAK-583 in Subjects With Diabetic Peripheral Neuropathy Completed NCT00760955 Phase 2 TAK-583;TAK-583;TAK-583;Placebo
28 A Multicenter Study Comparing the Analgesic Effects and Safety of ABT-639 Compared to Placebo in Subjects With Diabetic Neuropathic Pain Completed NCT01345045 Phase 2 ABT-639;pregabalin;Placebo
29 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
30 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
31 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
32 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
33 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
34 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
35 Study of Ixabepilone in Asian Subjects With Unresectable or Metastatic Gastric Cancer Completed NCT00983801 Phase 2 Ixabepilone
36 A Phase II, Trial of Ixabepilone Plus Cetuximab as First Line Therapy for Metastatic Pancreatic Cancer Completed NCT00383149 Phase 2 Ixabepilone;Cetuximab
37 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Completed NCT02739217 Phase 2 PBI-4050
38 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
39 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
40 Influence of Pronator Teres Release on Treatment of Median Nerve Compression Neuropathy Recruiting NCT01562860 Phase 2
41 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2 ACE-083;Placebo
42 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
43 Treatment De-Intensification for Squamous Cell Carcinoma of the Oropharynx Active, not recruiting NCT01088802 Phase 2 Cisplatin;Carboplatin
44 NB2013-HR German (GPOH) / Dutch (DCOG) Trial Terminated NCT02641782 Phase 2 antibody ch14.18;GM-CSF;IL-2 i.v.;IL-2 s.c.;Retinoic acid
45 A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps. Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
46 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
47 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
48 L-glutamine Supplementation to Alleviate Symptoms of Taxane-Induced Neuropathy in Patients With Breast Cancer Withdrawn NCT02215083 Phase 1
49 HyQvia in Multifocal Motor Neuropathy Unknown status NCT02885259 Not Applicable rHuPH20
50 Change of Nerve Conduction Properties in IVIg Dependent Neuropathies Unknown status NCT01655394

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:

41
Kidney, Skin

Publications for Motor Peripheral Neuropathy

Articles related to Motor Peripheral Neuropathy:

(show all 13)
# Title Authors Year
1
Severe peripheral motor neuropathy in a patient with Hodgkin lymphoma treated with brentuximab vedotin. ( 23391144 )
2013
2
Insulin-ameliorated peripheral motor neuropathy in spontaneously diabetic WBN/Kob rats. ( 23748976 )
2013
3
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice. ( 21220016 )
2011
4
Insulin-induced hypoglycemic peripheral motor neuropathy in spontaneously diabetic WBN/Kob rats. ( 20819377 )
2010
5
Inhibition of inducible nitric oxide synthase reduces an acute peripheral motor neuropathy produced by dermal burn injury in mice. ( 19192069 )
2008
6
Paraneoplastic encephalomyelitis/sensory motor peripheral neuropathy - an autopsy case study. ( 16012914 )
2005
7
Dapsone-induced motor peripheral neuropathy in pemphigus foliaceus. ( 8565254 )
1995
8
Peripheral motor neuropathy in spontaneously diabetic WBN/Kob rats: a morphometric and electron microscopic study. ( 2589026 )
1989
9
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. ( 3014798 )
1986
10
Peripheral motor neuropathy caused by excessive intake of dapsone (Avlosulfon). ( 6293406 )
1982
11
Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: new hereditary syndrome? ( 7282784 )
1981
12
Hereditary motor peripheral neuropathy predominantly affecting the arms. ( 180264 )
1976
13
Dapsone and peripheral motor neuropathy. ( 4307884 )
1969

Variations for Motor Peripheral Neuropathy

Expression for Motor Peripheral Neuropathy

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

Pathways for Motor Peripheral Neuropathy

Pathways related to Motor Peripheral Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Motor Peripheral Neuropathy

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

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 9.16 MPZ PMP22
2 chemical synaptic transmission GO:0007268 9.13 MPZ PMP22 SLC12A6
3 myelin assembly GO:0032288 8.62 MTMR2 PMP22

Sources for Motor Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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