CMT
MCID: CHR453
MIFTS: 30

Charcot-Marie-Tooth Hereditary Neuropathy (CMT) malady

Categories: Neuronal diseases, Genetic diseases, Ear diseases, Mental diseases

Aliases & Classifications for Charcot-Marie-Tooth Hereditary Neuropathy

Aliases & Descriptions for Charcot-Marie-Tooth Hereditary Neuropathy:

Name: Charcot-Marie-Tooth Hereditary Neuropathy 23
Charcot-Marie-Tooth Disease 69
Cmt 23

Classifications:



Summaries for Charcot-Marie-Tooth Hereditary Neuropathy

MalaCards based summary : Charcot-Marie-Tooth Hereditary Neuropathy, also known as charcot-marie-tooth disease, is related to charcot-marie-tooth disease and charcot-marie-tooth neuropathy, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Hereditary Neuropathy is LITAF (Lipopolysaccharide Induced TNF Factor). The drugs Prednisolone and Lidocaine have been mentioned in the context of this disorder. Related phenotype is behavior/neurological.

GeneReviews: NBK1358

Related Diseases for Charcot-Marie-Tooth Hereditary Neuropathy

Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Charcot-Marie-Tooth Neuropathy X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

Diseases related to Charcot-Marie-Tooth Hereditary Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 11.3
2 charcot-marie-tooth neuropathy 11.3
3 neuropathy 10.4
4 hereditary neuropathies 10.4
5 aortic aneurysm, familial thoracic 4 10.1 KIF1B LITAF
6 aneurysmal bone cysts 10.0 KIF1B TRPV4
7 potocki-lupski syndrome 10.0 KIF1B LITAF
8 dejerine-sottas disease 10.0 KIF1B TRPV4
9 parastremmatic dwarfism 10.0 KIF1B TRPV4
10 mitochondrial complex v deficiency, nuclear type 2 9.9 KIF1B TRPV4
11 pituitary adenoma, prolactin-secreting 9.9 MED25 TRPV4
12 5-oxoprolinase deficiency 9.9 SH3TC2 TRPV4
13 neuropathy, congenital hypomyelinating 9.9 KIF1B LITAF
14 conotruncal heart malformations 9.8 KIF1B MED25 TRPV4
15 charcot-marie-tooth disease, type 2j 9.8 KIF1B SH3TC2
16 thrombophilia due to antithrombin iii deficiency 9.3 KIF1B LRSAM1 MED25 SH3TC2 TRPV4
17 wernicke-korsakoff syndrome 9.2 KIF1B LITAF LRSAM1 MED25 SH3TC2 TRPV4
18 chondrodysplasia punctata 2, x-linked 9.0 KIF1B LITAF LRSAM1 MED25 SH3TC2 TRPV4
19 chromophobe renal cell carcinoma 9.0 KIF1B LITAF LRSAM1 MED25 SH3TC2 TRPV4

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Hereditary Neuropathy:



Diseases related to Charcot-Marie-Tooth Hereditary Neuropathy

Symptoms & Phenotypes for Charcot-Marie-Tooth Hereditary Neuropathy

UMLS symptoms related to Charcot-Marie-Tooth Hereditary Neuropathy:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Hereditary Neuropathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 KIF1B LRSAM1 MED25 SH3TC2 TRPV4

Drugs & Therapeutics for Charcot-Marie-Tooth Hereditary Neuropathy

Drugs for Charcot-Marie-Tooth Hereditary Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 200)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
2
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
5
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
6
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
11
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
12
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
13
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
16 Prednisolone acetate Phase 4,Phase 2,Phase 3
17 Analgesics Phase 4,Phase 3,Phase 2
18 glucocorticoids Phase 4,Phase 3,Phase 2
19 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
20 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
21 Neuroprotective Agents Phase 4,Phase 2,Phase 3
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Analgesics, Non-Narcotic Phase 4,Phase 2
24 Hormone Antagonists Phase 4,Phase 3,Phase 2
25 Tranquilizing Agents Phase 4,Phase 3,Phase 2
26 Anesthetics Phase 4,Phase 2,Phase 3
27 Hormones Phase 4,Phase 3,Phase 2
28 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
29 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Anesthetics, Local Phase 4,Phase 2,Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
32 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
33 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
34 Prednisolone phosphate Phase 4,Phase 2,Phase 3
35 Anticonvulsants Phase 4,Phase 3
36 Protective Agents Phase 4,Phase 2,Phase 3
37 Antiemetics Phase 4,Phase 2,Phase 3
38 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
39 Psychotropic Drugs Phase 4,Phase 3,Phase 2
40 Antimanic Agents Phase 4,Phase 3
41 Respiratory System Agents Phase 4,Phase 3
42 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
43 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
44 Autonomic Agents Phase 4,Phase 2,Phase 3
45 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
46 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
47 triamcinolone acetonide Phase 4,Phase 2,Phase 3
48 calcium channel blockers Phase 4,Phase 3
49 GABA Agents Phase 4,Phase 3
50 Cyclooxygenase Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 230)
id Name Status NCT ID Phase
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
3 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
4 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
5 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 A 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
8 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
9 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
10 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
11 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4
12 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4
13 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Enrolling by invitation NCT02652390 Phase 4
14 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4
15 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
16 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
17 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
18 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
19 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
20 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3
21 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3
22 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3
23 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3
24 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
25 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
26 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
27 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
28 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
29 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
30 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3
31 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3
32 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
33 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3
34 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3
35 Patient Outcomes With Endoscopic Versus Open Carpal Tunnel Release Unknown status NCT00880295 Phase 2
36 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2
37 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
38 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
39 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
40 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
41 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
42 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
43 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
44 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
45 Treatment for Cubital Tunnel Syndrome Completed NCT00184158 Phase 2
46 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2
47 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
48 Sham Device, Pill Placebo or Treatment For Arm Pain Completed NCT00029497 Phase 2
49 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
50 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2

Search NIH Clinical Center for Charcot-Marie-Tooth Hereditary Neuropathy

Genetic Tests for Charcot-Marie-Tooth Hereditary Neuropathy

Anatomical Context for Charcot-Marie-Tooth Hereditary Neuropathy

Publications for Charcot-Marie-Tooth Hereditary Neuropathy

Articles related to Charcot-Marie-Tooth Hereditary Neuropathy:

id Title Authors Year
1
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. ( 22971232 )
2012
2
Charcot-Marie-Tooth Hereditary Neuropathy Overview ( 20301532 )
1993
3
Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. ( 7316837 )
1981

Variations for Charcot-Marie-Tooth Hereditary Neuropathy

Expression for Charcot-Marie-Tooth Hereditary Neuropathy

Search GEO for disease gene expression data for Charcot-Marie-Tooth Hereditary Neuropathy.

Pathways for Charcot-Marie-Tooth Hereditary Neuropathy

GO Terms for Charcot-Marie-Tooth Hereditary Neuropathy

Cellular components related to Charcot-Marie-Tooth Hereditary Neuropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.8 KIF1B SH3TC2 TRPV4

Biological processes related to Charcot-Marie-Tooth Hereditary Neuropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 8.8 KIF1B LITAF YARS

Sources for Charcot-Marie-Tooth Hereditary Neuropathy

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10 dbSNP
11 DGIdb
16 ExPASy
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68 Tocris
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70 UMLS via Orphanet
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