CMT
MCID: CHR102
MIFTS: 41

Charcot-Marie-Tooth Neuropathy (CMT) malady

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

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy

Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy:

Name: Charcot-Marie-Tooth Neuropathy 24
Charcot Marie Tooth Hereditary Neuropathy 24
Charcot-Marie-Tooth Disease 69
Cmt 24

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy

MalaCards based summary : Charcot-Marie-Tooth Neuropathy, also known as charcot marie tooth hereditary neuropathy, is related to charcot-marie-tooth disease, axonal, type 2k and neuropathy, congenital hypomyelinating, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Neuropathy is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Prednisolone and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and skeletal muscle, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Charcot-Marie-Tooth 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 Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2k 32.3 GDAP1 SBF2
2 neuropathy, congenital hypomyelinating 31.9 EGR2 GDAP1 GJB1 MPZ PMP22
3 charcot-marie-tooth disease, type 1e 31.8 CMT1A EGR2 GJB1 MPZ PMP22
4 dejerine-sottas disease 31.2 GDAP1 GJB1 MFN2 MPZ PMP22
5 charcot-marie-tooth disease, type 2j 30.5 EGR2 GARS GDAP1 GJB1 MFN2 MPZ
6 charcot-marie-tooth neuropathy, x-linked dominant, 1 12.6
7 dnm2-related intermediate charcot-marie-tooth neuropathy 12.5
8 charcot-marie-tooth neuropathy type 1 12.5
9 charcot-marie-tooth neuropathy x type 1 12.5
10 charcot-marie-tooth neuropathy type 2e/1f 12.4
11 charcot-marie-tooth neuropathy x type 5 12.4
12 charcot-marie-tooth neuropathy type 2a 12.4
13 intermediate charcot-marie-tooth neuropathy 12.4
14 charcot-marie-tooth neuropathy x 12.4
15 charcot-marie-tooth neuropathy type 4j 12.4
16 charcot-marie-tooth neuropathy type 2i/2j 12.3
17 charcot-marie-tooth neuropathy, x-linked recessive, 3 12.3
18 charcot-marie-tooth neuropathy, x-linked recessive, 2 12.3
19 charcot-marie-tooth hereditary neuropathy 12.3
20 charcot-marie-tooth neuropathy dominant intermediate e 12.3
21 gdap1-related intermediate charcot-marie-tooth neuropathy 12.3
22 charcot-marie-tooth neuropathy type 2h/2k 12.3
23 charcot-marie-tooth neuropathy x type 2 12.2
24 charcot-marie-tooth neuropathy x type 3 12.2
25 charcot-marie-tooth neuropathy x type 4 12.2
26 charcot-marie-tooth neuropathy x type 6 12.2
27 charcot-marie-tooth neuropathy dominant intermediate f 12.2
28 charcot-marie-tooth neuropathy recessive intermediate d 12.2
29 kars-related intermediate charcot-marie-tooth neuropathy 12.2
30 prps1-related charcot-marie-tooth neuropathy x type 5 12.2
31 plekhg5-related intermediate charcot-marie-tooth neuropathy c 12.2
32 charcot-marie-tooth neuropathy type 2l 12.2
33 charcot-marie-tooth neuropathy type 2n 12.2
34 charcot-marie-tooth neuropathy type 2o 12.2
35 charcot-marie-tooth neuropathy type 4b3 12.2
36 charcot-marie-tooth neuropathy type 4f 12.2
37 charcot-marie-tooth disease 11.8
38 charcot-marie-tooth disease, axonal, type 2s 11.6
39 charcot-marie-tooth disease, type 2r 11.6
40 charcot-marie-tooth disease, type 4c 11.6
41 charcot-marie-tooth disease, type 4h 11.6
42 charcot-marie-tooth disease, dominant intermediate d 11.5
43 charcot-marie-toothe disease, axonal, type 2p 11.5
44 charcot-marie-tooth disease, axonal, type 2q 11.5
45 charcot-marie-tooth disease, type 1a 11.5
46 charcot-marie-tooth disease, type 4b2 11.5
47 charcot-marie-tooth disease, dominant intermediate c 11.5
48 charcot-marie-tooth disease, type 2e 11.5
49 charcot-marie-tooth disease, type 4d 11.5
50 charcot-marie-tooth disease, dominant intermediate e 11.5

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



Diseases related to Charcot-Marie-Tooth Neuropathy

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy

UMLS symptoms related to Charcot-Marie-Tooth Neuropathy:


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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 EGR2 GARS GDAP1 GJB1 MFN2 MPZ
2 nervous system MP:0003631 9.23 EGR2 GARS GDAP1 GJB1 MFN2 MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy

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

(show top 50) (show all 195)
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
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
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 219)
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 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
3 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
4 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
5 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
6 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
7 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
8 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
9 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 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 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
32 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, 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 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
37 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
38 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2
39 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
40 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
41 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
42 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
43 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
44 The Treatment of Carpal Tunnel Syndrome Using Thumb Pressure Along the Median Nerve Completed NCT00634699 Phase 1, Phase 2
45 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
46 Treatment for Cubital Tunnel Syndrome Completed NCT00184158 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 Neuropathy

Genetic Tests for Charcot-Marie-Tooth Neuropathy

Genetic tests related to Charcot-Marie-Tooth Neuropathy:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy 24

Anatomical Context for Charcot-Marie-Tooth Neuropathy

MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy:

39
Testes, Skin, Skeletal Muscle, Heart, Brain

Publications for Charcot-Marie-Tooth Neuropathy

Articles related to Charcot-Marie-Tooth Neuropathy:

(show top 50) (show all 166)
id Title Authors Year
1
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. ( 28077491 )
2017
2
Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy. ( 27940147 )
2017
3
Corrigendum: Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. ( 26792285 )
2016
4
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. ( 27388934 )
2016
5
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. ( 26828946 )
2016
6
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation. ( 27649278 )
2016
7
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. ( 27438001 )
2016
8
ERRATUM: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. ( 26754338 )
2016
9
Charcot-Marie-Tooth neuropathy and Mobitz II heart block. ( 26352718 )
2015
10
Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1. ( 26955336 )
2015
11
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. ( 26307494 )
2015
12
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. ( 25860513 )
2015
13
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2). ( 24980632 )
2015
14
INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients. ( 25943269 )
2015
15
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy. ( 25122658 )
2015
16
[COMPUTATIONAL MODELING OF MOLECULAR DYNAMICS OF G41R MUTANT FORM OF HUMAN TYROSYL-tRNA SYNTHETASE, ASSOSIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY]. ( 27025069 )
2015
17
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy. ( 26456943 )
2015
18
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. ( 26492578 )
2015
19
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. ( 26138142 )
2015
20
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. ( 25400013 )
2014
21
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. ( 24521780 )
2014
22
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. ( 25165188 )
2014
23
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. ( 23142943 )
2013
24
Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy. ( 23827825 )
2013
25
Genetic deletion of Cadm4 results in myelin abnormalities resembling Charcot-Marie-Tooth neuropathy. ( 23825401 )
2013
26
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. ( 23813975 )
2013
27
AAV1.NT-3 Gene Therapy for Charcot-Marie-Tooth Neuropathy. ( 24162799 )
2013
28
Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A. ( 23891256 )
2013
29
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. ( 24354524 )
2013
30
Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients. ( 23937377 )
2013
31
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy. ( 22961558 )
2013
32
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. ( 23806086 )
2013
33
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. ( 24041033 )
2013
34
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. ( 23963299 )
2013
35
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. ( 22526351 )
2012
36
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family. ( 22546699 )
2012
37
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination. ( 22451505 )
2012
38
Autosomal recessive Charcot-Marie-Tooth neuropathy. ( 22411234 )
2012
39
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. ( 21412843 )
2011
40
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy. ( 22091729 )
2011
41
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie- Tooth neuropathies. ( 21288981 )
2011
42
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. ( 22031878 )
2011
43
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. ( 21681064 )
2011
44
Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy. ( 20720503 )
2010
45
Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease. ( 21093731 )
2010
46
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. ( 20220177 )
2010
47
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. ( 20826437 )
2010
48
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. ( 20178975 )
2010
49
Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy. ( 20443038 )
2010
50
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. ( 20418531 )
2010

Variations for Charcot-Marie-Tooth Neuropathy

Expression for Charcot-Marie-Tooth Neuropathy

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

Pathways for Charcot-Marie-Tooth Neuropathy

Pathways related to Charcot-Marie-Tooth Neuropathy according to GeneCards Suite gene sharing:

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

GO Terms for Charcot-Marie-Tooth Neuropathy

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

id Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.26 GDAP1 MFN2
2 peripheral nervous system development GO:0007422 9.16 EGR2 PMP22
3 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
4 myelination GO:0042552 8.92 EGR2 MPZ PMP22 SBF2

Sources for Charcot-Marie-Tooth Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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