MCID: CHR453
MIFTS: 39

Charcot-Marie-Tooth Hereditary Neuropathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Hereditary Neuropathy

MalaCards integrated aliases for Charcot-Marie-Tooth Hereditary Neuropathy:

Name: Charcot-Marie-Tooth Hereditary Neuropathy 25
Distal Hereditary Motor Neuropathy 25 54
Distal Spinal Muscular Atrophy 54 6
Dhmn 25 54
Neuropathy, Motor, Distal, Hereditary 41
Hereditary Motor/sensory Neuropathy 25
Hereditary Sensory Motor Neuropathy 56
Spinal Muscular Atrophy Distal 56
Charcot-Marie-Tooth Disease 74
Hmsn 25
Dsma 54

Classifications:



External Ids:

UMLS 74 C0007959

Summaries for Charcot-Marie-Tooth Hereditary Neuropathy

MalaCards based summary : Charcot-Marie-Tooth Hereditary Neuropathy, also known as distal hereditary motor neuropathy, is related to charcot-marie-tooth disease, demyelinating, type 1a and hypertrophic neuropathy of dejerine-sottas, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Hereditary Neuropathy is GARS (Glycyl-TRNA Synthetase), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Lidocaine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and brain.

GeneReviews: NBK1358

Related Diseases for Charcot-Marie-Tooth Hereditary Neuropathy

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

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

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1a 32.1 MPZ PMP22
2 hypertrophic neuropathy of dejerine-sottas 32.0 MPZ PMP22
3 roussy-levy hereditary areflexic dystasia 32.0 MPZ PMP22
4 charcot-marie-tooth disease, demyelinating, type 1b 31.9 MPZ PMP22
5 charcot-marie-tooth disease, x-linked dominant, 1 31.6 MPZ PMP22
6 charcot-marie-tooth disease, axonal, type 2b 31.6 MPZ PMP22
7 charcot-marie-tooth disease, demyelinating, type 1d 31.6 MPZ PMP22
8 charcot-marie-tooth disease, demyelinating, type 1c 31.5 MPZ PMP22
9 charcot-marie-tooth disease 31.2 GARS MPZ MT-ATP6 PMP22
10 sensory peripheral neuropathy 30.7 MPZ PMP22
11 neuropathy 29.7 GARS MPZ MT-ATP6 PMP22
12 neuropathy, hereditary, with liability to pressure palsies 29.6 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2d 29.5 GARS MPZ PMP22
14 tooth disease 29.3 GARS MPZ PMP22
15 distal hereditary motor neuropathy, type v 12.8
16 distal hereditary motor neuropathy, type ii 12.7
17 distal hereditary motor neuropathies 12.7
18 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 12.5
19 distal hereditary motor neuropathy type 7 12.4
20 spinal muscular atrophy, distal, autosomal recessive, 4 12.2
21 hereditary motor and sensory neuropathy v 12.0
22 spinal muscular atrophy, distal, autosomal recessive, 2 11.9
23 neuronopathy, distal hereditary motor, type va 11.8
24 encephalopathy, progressive, with amyotrophy and optic atrophy 11.7
25 neuronopathy, distal hereditary motor, type viii 11.7
26 spastic paraplegia 17, autosomal dominant 11.7
27 spinal muscular atrophy, distal, x-linked 3 11.7
28 neuronopathy, distal hereditary motor, type iib 11.7
29 neuronopathy, distal hereditary motor, type iia 11.7
30 neuronopathy, distal hereditary motor, type vb 11.7
31 spinal muscular atrophy, distal, autosomal recessive, 5 11.7
32 charcot-marie-tooth disease, type 4d 11.6
33 amyotrophic lateral sclerosis 4, juvenile 11.6
34 spinal muscular atrophy, distal, autosomal recessive, 1 11.6
35 neuronopathy, distal hereditary motor, type viia 11.5
36 neuronopathy, distal hereditary motor, type viib 11.5
37 charcot-marie-tooth neuropathy type 2a 11.4
38 keratoderma palmoplantar spastic paralysis 11.4
39 agenesis of the corpus callosum with peripheral neuropathy 11.4
40 refsum disease, classic 11.4
41 neuromyotonia and axonal neuropathy, autosomal recessive 11.4
42 neuronopathy, distal hereditary motor, type i 11.3
43 spinal muscular atrophy, distal, autosomal recessive, 3 11.3
44 neuronopathy, distal hereditary motor, type iic 11.3
45 neuronopathy, distal hereditary motor, type iid 11.3
46 neuropathy, hereditary motor and sensory, type via 11.3
47 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.3
48 charcot-marie-tooth disease, axonal, type 2a1 11.2
49 neuropathy, hereditary, with or without age-related macular degeneration 11.2
50 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.2

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:


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

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 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 302-25-0
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2921-57-5
5
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 83-43-2 6741
6
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
7
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
8
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
9
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
10
Bupivacaine Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 38396-39-3, 2180-92-9 2474
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
13
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
14
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
15
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
16
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
17
Cefazolin Approved Phase 4 25953-19-9 33255 656510
18
Vancomycin Approved Phase 4 1404-90-6 14969 441141
19
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
20
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
21
Benzocaine Approved, Investigational Phase 4,Not Applicable 1994-09-7, 94-09-7 2337
22
tannic acid Approved Phase 4,Not Applicable 1401-55-4
23
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 59-30-3 6037
25
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
26
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2920-86-7
27 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
31 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
36 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
38 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
39 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
40 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
42 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
43 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
44 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
45 Methylprednisolone Acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
46 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
47 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Antipyretics Phase 4,Phase 2
49 Antirheumatic Agents Phase 4,Phase 2
50 Cyclooxygenase Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 317)
# 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 Onset and Duration of Forearm Nerve Blockade Completed NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
3 Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS Completed NCT03802448 Phase 4
4 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
5 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4 Acetaminophen;Ketorolac Tromethamine;Saline
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
8 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
9 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 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
10 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4 Ropivacaine 0.2%;Ropivacaine 0.75%;Normal saline
11 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
12 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
13 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
14 Preoperative Antibiotics for Carpal Tunnel Release Surgery Recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
15 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
16 Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration Active, not recruiting NCT03196817 Phase 4 betamethasone dipropionate, betamethasone disodium phosphate and lidocaine 2%
17 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
18 Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS Not yet recruiting NCT03792945 Phase 4 local injection
19 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
20 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
21 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
22 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
23 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
24 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
25 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
26 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
27 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
28 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
29 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
30 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
31 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
32 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
33 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
34 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
35 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
36 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
37 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
38 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Active, not recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
39 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
40 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
41 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
42 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3 lidocaine patch 5%
43 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
44 Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Hand Surgery Unknown status NCT03111186 Phase 2 Oxycodone Hcl 5Mg;Ibuprofen 400 mg;Acetaminophen 650 mg
45 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
46 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
47 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
48 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
49 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
50 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid

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

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

42
Testes, Skin, Brain, Spinal Cord, Breast, Liver, Heart

Publications for Charcot-Marie-Tooth Hereditary Neuropathy

Articles related to Charcot-Marie-Tooth Hereditary Neuropathy:

(show top 50) (show all 55)
# Title Authors Year
1
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy. ( 30847374 )
2019
2
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
3
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. ( 28780615 )
2018
4
TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy. ( 30503856 )
2018
5
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. ( 30079398 )
2018
6
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V. ( 30083128 )
2018
7
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. ( 29782645 )
2018
8
Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. ( 29527379 )
2018
9
Charcot-Marie-Tooth hereditary neuropathy revealed after administration of docetaxel in advanced breast cancer. ( 29067280 )
2017
10
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. ( 28975462 )
2017
11
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. ( 28369220 )
2017
12
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. ( 27875632 )
2017
13
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy. ( 28503617 )
2016
14
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. ( 27573046 )
2016
15
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. ( 26786006 )
2016
16
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. ( 26989944 )
2016
17
Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71]. ( 27265096 )
2016
18
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). ( 27293072 )
2016
19
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. ( 27402882 )
2016
20
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. ( 26078401 )
2015
21
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. ( 24105373 )
2014
22
A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1. ( 25088881 )
2014
23
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. ( 22971232 )
2012
24
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. ( 22522442 )
2012
25
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. ( 22573628 )
2012
26
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. ( 22595202 )
2012
27
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. ( 22703882 )
2012
28
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ( 23279345 )
2012
29
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. ( 21143467 )
2011
30
Addendum to 'Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'. ( 21542836 )
2011
31
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. ( 20170900 )
2010
32
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
33
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. ( 20660910 )
2010
34
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. ( 19153371 )
2009
35
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype. ( 19409784 )
2009
36
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. ( 18587268 )
2008
37
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. ( 18984846 )
2008
38
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. ( 17486577 )
2007
39
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. ( 16427281 )
2006
40
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ( 16769947 )
2006
41
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. ( 16155736 )
2005
42
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. ( 15122254 )
2004
43
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. ( 14981520 )
2004
44
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. ( 12090300 )
2002
45
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. ( 11851982 )
2001
46
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. ( 10777663 )
2000
47
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. ( 10586231 )
1999
48
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. ( 10586274 )
1999
49
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24. ( 29086955 )
1999
50
Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics. ( 29086966 )
1999

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

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

# Super pathways Score Top Affiliating Genes
1 10.63 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Hereditary Neuropathy

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.96 MPZ PMP22
2 myelination GO:0042552 8.62 MPZ PMP22

Sources for Charcot-Marie-Tooth Hereditary Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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