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


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:

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
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
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
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. ( 22971232 )
Charcot-Marie-Tooth Hereditary Neuropathy Overview ( 20301532 )
Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. ( 7316837 )

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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