DHMN
MCID: CHR453
MIFTS: 40

Charcot-Marie-Tooth Hereditary Neuropathy (DHMN)

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 Spinal Muscular Atrophy 20 58 29 6
Distal Hereditary Motor Neuropathy 25 20 58
Dhmn 25 20 58
Dsma 20 58
Hereditary Motor/sensory Neuropathy 25
Spinal Muscular Atrophy Distal 54
Charcot-Marie-Tooth Disease 70
Hmsn 25

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 71 C0393541
Orphanet 58 ORPHA53739
UMLS 70 C0007959

Summaries for Charcot-Marie-Tooth Hereditary Neuropathy

MalaCards based summary : Charcot-Marie-Tooth Hereditary Neuropathy, also known as distal spinal muscular atrophy, is related to neuronopathy, distal hereditary motor, type va and distal hereditary motor neuronopathy type 2, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Hereditary Neuropathy is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2). The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and thyroid.

GeneReviews: NBK1358

Related Diseases for Charcot-Marie-Tooth Hereditary Neuropathy

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

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 top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type va 32.7 IGHMBP2 GARS1
2 distal hereditary motor neuronopathy type 2 32.6 IGHMBP2 GARS1
3 neuronopathy, distal hereditary motor, type iib 32.5 IGHMBP2 GARS1
4 autosomal dominant distal hereditary motor neuronopathy 32.2 IGHMBP2 GARS1
5 spinal muscular atrophy, distal, autosomal recessive, 1 32.1 IGHMBP2 GARS1
6 autosomal recessive distal hereditary motor neuronopathy 31.9 IGHMBP2 GARS1
7 charcot-marie-tooth disease 31.4 MT-ATP6 IGHMBP2 GARS1
8 muscular atrophy 30.7 IGHMBP2 GARS1
9 spinal muscular atrophy 30.5 IGHMBP2 GARS1
10 tooth disease 30.3 MT-ATP6 IGHMBP2 GARS1
11 spinal muscular atrophy with lower extremity predominance 30.2 IGHMBP2 GARS1
12 peripheral nervous system disease 30.0 MT-ATP6 GARS1
13 charcot-marie-tooth disease, axonal, type 2e 30.0 IGHMBP2 GARS1
14 polyneuropathy 30.0 MT-ATP6 IGHMBP2
15 neuromuscular disease 29.9 IGHMBP2 GARS1
16 motor peripheral neuropathy 29.8 IGHMBP2 GARS1
17 neuropathy 29.8 MT-ATP6 IGHMBP2 GARS1
18 spinal muscular atrophy, distal, autosomal recessive, 4 11.9
19 neuronopathy, distal hereditary motor, type viib 11.7
20 neuronopathy, distal hereditary motor, type viia 11.7
21 neuronopathy, distal hereditary motor, type iia 11.7
22 neuronopathy, distal hereditary motor, type iic 11.6
23 neuronopathy, distal hereditary motor, type iid 11.6
24 spinal muscular atrophy, distal, autosomal recessive, 2 11.5
25 amyotrophic lateral sclerosis 4, juvenile 11.5
26 spinal muscular atrophy, distal, x-linked 3 11.5
27 autosomal recessive distal hereditary motor neuropathy 11.5
28 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 11.5
29 neuronopathy, distal hereditary motor, type i 11.4
30 spinal muscular atrophy, distal, autosomal recessive, 3 11.4
31 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 11.4
32 distal hereditary motor neuronopathy type 7 11.4
33 x-linked distal hereditary motor neuropathy 11.3
34 encephalopathy, progressive, with amyotrophy and optic atrophy 11.3
35 spastic paraplegia 17, autosomal dominant 11.3
36 neuronopathy, distal hereditary motor, type ix 11.3
37 neuromyotonia and axonal neuropathy, autosomal recessive 11.3
38 distal hereditary motor neuropathy type 7 11.3
39 neuronopathy, distal hereditary motor, type vb 11.3
40 spinal muscular atrophy, distal, autosomal recessive, 5 11.3
41 roussy-levy hereditary areflexic dystasia 11.3
42 refsum disease, classic 11.3
43 neuronopathy, distal hereditary motor, type viii 11.3
44 hypertrophic neuropathy of dejerine-sottas 11.2
45 neuropathy, hereditary motor and sensory, type via, with optic atrophy 11.2
46 charcot-marie-tooth disease, type 4d 11.2
47 charcot-marie-tooth disease, x-linked dominant, 1 11.2
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; headache; syncope; pain; 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 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Trace Elements Phase 4
3 Nutrients Phase 4
4 Micronutrients Phase 4
5 Vitamins Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Ethanol Approved Phase 3 64-17-5 702
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
19 carnitine Phase 2, Phase 3
20 Nootropic Agents Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 3
22 Gastrointestinal Agents Phase 3
23 Narcotics Phase 3
24 Cathartics Phase 3
25 GABA Agonists Phase 3
26 Neurotransmitter Agents Phase 3
27 Narcotic Antagonists Phase 3
28 Laxatives Phase 3
29 Hematinics Phase 2, Phase 3
30 Epoetin alfa Phase 2, Phase 3 113427-24-0
31 Neuroprotective Agents Phase 2, Phase 3
32
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
33
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
35 Ubiquinone Phase 1, Phase 2
36 Vitamin B7 Phase 2
37 Ulipristal acetate Phase 2 126784-99-4
38
Iron Approved 7439-89-6 23925 29936
39
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
40
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
41 Analgesics
42 Calciferol
43 Calcium, Dietary
44 insulin
45 Insulin, Globin Zinc
46 Hemostatics
47 Immunosuppressive Agents
48 Immunologic Factors
49 Anti-Infective Agents, Local
50 Anti-Infective Agents

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
10 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
11 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
12 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
13 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
14 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
15 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
16 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
17 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
18 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
19 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
20 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
21 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
22 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
23 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
24 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
25 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
26 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
27 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
28 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
29 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
30 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
31 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
32 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
33 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
34 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
35 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
36 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
37 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
38 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
39 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
40 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
41 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
42 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
43 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
44 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
45 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
46 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
47 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
48 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
49 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Completed NCT03966287
50 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722

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

Genetic Tests for Charcot-Marie-Tooth Hereditary Neuropathy

Genetic tests related to Charcot-Marie-Tooth Hereditary Neuropathy:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy 29

Anatomical Context for Charcot-Marie-Tooth Hereditary Neuropathy

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

40
Spinal Cord, Brain, Thyroid

Publications for Charcot-Marie-Tooth Hereditary Neuropathy

Articles related to Charcot-Marie-Tooth Hereditary Neuropathy:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. 6
24388491 2014
2
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. 6
14506069 2003
3
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry. 25
32928981 2020
4
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. 25
32367058 2020
5
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. 25
30039206 2018
6
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. 25
29718187 2018
7
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. 25
29626178 2018
8
Pain in Charcot-Marie-Tooth disease: an update. 25
29742248 2018
9
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 25
29351582 2018
10
Updating the classification of inherited neuropathies: Results of an international survey. 25
29429969 2018
11
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 25
29499166 2018
12
Natural history of Charcot-Marie-Tooth disease during childhood. 25
28796392 2017
13
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. 25
28190646 2017
14
Genetic heterogeneity of motor neuropathies. 25
28251916 2017
15
Hereditary neuropathies: An update. 25
27866730 2016
16
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. 25
27083531 2016
17
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. 25
27438001 2016
18
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. 25
27043305 2016
19
Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature. 25
27124017 2016
20
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. 25
26855581 2016
21
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies. 25
28018906 2016
22
Rehabilitation issues in Charcot-Marie-Tooth disease. 25
26966798 2016
23
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. 25
25850958 2016
24
Systematic review of exercise for Charcot-Marie-Tooth disease. 25
26010435 2015
25
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease. 25
25157034 2015
26
Clinical implications of genetic advances in Charcot-Marie-Tooth disease. 25
24018473 2013
27
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 25
23434117 2013
28
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 25
22933740 2012
29
Mechanisms of disease in hereditary sensory and autonomic neuropathies. 25
22270030 2012
30
Determinants of reduced health-related quality of life in pediatric inherited neuropathies. 25
20733147 2010
31
Diagnosis and new treatments in genetic neuropathies. 25
19917815 2009
32
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. 25
19539237 2009
33
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. 54 61
19430273 2009
34
Natural history and treatment of peripheral inherited neuropathies. 25
20225028 2009
35
Charcot-Marie-tooth disease. 25
19825739 2008
36
Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. 25
19047708 2008
37
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. 25
18797198 2008
38
Charcot-Marie-Tooth disease. 25
18334132 2008
39
Treatment for Charcot-Marie-Tooth disease. 25
18254090 2008
40
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. 25
17205227 2006
41
Current concepts review: orthopaedic aspects of Charcot-Marie-Tooth disease. 25
17144969 2006
42
Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 25
17060310 2006
43
Evaluation and treatment of hip dysplasia in Charcot-Marie-Tooth disease. 25
16638451 2006
44
Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. 25
16942454 2006
45
Handgrip impairment in Charcot-Marie-Tooth disease. 25
16200028 2005
46
Current Therapy for Charcot-Marie-Tooth Disease. 25
15610704 2005
47
Clinicopathological and genetic study of early-onset demyelinating neuropathy. 25
15469949 2004
48
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. 25
11445635 2001
49
Neuropathic pain in Charcot-Marie-Tooth disease. 25
9862301 1998
50
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. 25
8608515 1996

Variations for Charcot-Marie-Tooth Hereditary Neuropathy

ClinVar genetic disease variations for Charcot-Marie-Tooth Hereditary Neuropathy:

6 (show top 50) (show all 164)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGHMBP2 NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) SNV Pathogenic 228355 rs200089714 GRCh37: 11:68673577-68673577
GRCh38: 11:68906109-68906109
2 IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) SNV Pathogenic 620136 rs372181708 GRCh37: 11:68700867-68700867
GRCh38: 11:68933399-68933399
3 IGHMBP2 NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) SNV Likely pathogenic 827641 rs761789207 GRCh37: 11:68704313-68704313
GRCh38: 11:68936845-68936845
4 TDRKH NM_001083965.2(TDRKH):c.986G>A (p.Arg329His) SNV Likely pathogenic 518454 rs375454176 GRCh37: 1:151748973-151748973
GRCh38: 1:151776497-151776497
5 ETFDH NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs) Insertion Uncertain significance 549696 rs1554031715 GRCh37: 4:159606288-159606289
GRCh38: 4:158685136-158685137
6 FBXO38 NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) SNV Uncertain significance 549698 rs766830490 GRCh37: 5:147805205-147805205
GRCh38: 5:148425642-148425642
7 IGHMBP2 NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) Microsatellite Uncertain significance 162195 rs724159994 GRCh37: 11:68707126-68707127
GRCh38: 11:68939658-68939659
8 MARS1 NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) SNV Uncertain significance 549700 rs146146070 GRCh37: 12:57884403-57884403
GRCh38: 12:57490620-57490620
9 FUS NM_001170634.1(FUS):c.*2201dup Duplication Uncertain significance 549702 rs1555510151 GRCh37: 16:31204959-31204960
GRCh38: 16:31193638-31193639
10 SETX NM_015046.7(SETX):c.895C>T (p.Arg299Cys) SNV Uncertain significance 549705 rs777182592 GRCh37: 9:135206779-135206779
GRCh38: 9:132331392-132331392
11 SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) SNV Uncertain significance 549706 rs773393717 GRCh37: 2:108627123-108627123
GRCh38: 2:108010667-108010667
12 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) Deletion Uncertain significance 411680 rs768823392 GRCh37: 16:89613065-89613073
GRCh38: 16:89546657-89546665
13 SETX NM_015046.7(SETX):c.8C>T (p.Thr3Ile) SNV Uncertain significance 2290 rs28941475 GRCh37: 9:135224808-135224808
GRCh38: 9:132349421-132349421
14 SETX NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) SNV Uncertain significance 2289 rs29001584 GRCh37: 9:135205819-135205819
GRCh38: 9:132330432-132330432
15 SETX NM_015046.7(SETX):c.6407G>A (p.Arg2136His) SNV Uncertain significance 2291 rs121434378 GRCh37: 9:135158790-135158790
GRCh38: 9:132283403-132283403
16 IGHMBP2 NM_002180.2(IGHMBP2):c.1144G>A (p.Glu382Lys) SNV Uncertain significance 637456 rs776730737 GRCh37: 11:68696734-68696734
GRCh38: 11:68929266-68929266
17 IGHMBP2 NM_002180.2(IGHMBP2):c.1743A>C (p.Arg581Ser) SNV Uncertain significance 637457 rs1594454382 GRCh37: 11:68702877-68702877
GRCh38: 11:68935409-68935409
18 IGHMBP2 NM_002180.2(IGHMBP2):c.50T>C (p.Leu17Pro) SNV Uncertain significance 637458 rs1594412120 GRCh37: 11:68671470-68671470
GRCh38: 11:68904002-68904002
19 IGHMBP2 NM_002180.2(IGHMBP2):c.1277T>C (p.Leu426Pro) SNV Uncertain significance 637459 rs1555247218 GRCh37: 11:68700808-68700808
GRCh38: 11:68933340-68933340
20 IGHMBP2 NM_002180.2(IGHMBP2):c.616C>T (p.Gln206Ter) SNV Uncertain significance 637460 rs1594422624 GRCh37: 11:68678976-68678976
GRCh38: 11:68911508-68911508
21 IGHMBP2 NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) Deletion Uncertain significance 637461 rs1594455576 GRCh37: 11:68703825-68703825
GRCh38: 11:68936357-68936357
22 IGHMBP2 NM_002180.2(IGHMBP2):c.647C>T (p.Pro216Leu) SNV Uncertain significance 637462 rs1594422676 GRCh37: 11:68679007-68679007
GRCh38: 11:68911539-68911539
23 IGHMBP2 NM_002180.2(IGHMBP2):c.1807C>T (p.Arg603Cys) SNV Uncertain significance 637463 rs1465803265 GRCh37: 11:68703755-68703755
GRCh38: 11:68936287-68936287
24 IGHMBP2 NM_002180.2(IGHMBP2):c.661A>G (p.Thr221Ala) SNV Uncertain significance 637464 rs1594422709 GRCh37: 11:68679021-68679021
GRCh38: 11:68911553-68911553
25 IGHMBP2 NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) Deletion Uncertain significance 637465 rs779716706 GRCh37: 11:68679018-68679018
GRCh38: 11:68911550-68911550
26 IGHMBP2 NM_002180.2(IGHMBP2):c.1415T>C (p.Leu472Pro) SNV Uncertain significance 637466 rs1594451536 GRCh37: 11:68700946-68700946
GRCh38: 11:68933478-68933478
27 IGHMBP2 NM_002180.2(IGHMBP2):c.721T>C (p.Cys241Arg) SNV Uncertain significance 637467 rs1594427373 GRCh37: 11:68682300-68682300
GRCh38: 11:68914832-68914832
28 IGHMBP2 NM_002180.2(IGHMBP2):c.752T>C (p.Leu251Pro) SNV Uncertain significance 637468 rs1594427489 GRCh37: 11:68682331-68682331
GRCh38: 11:68914863-68914863
29 IGHMBP2 NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) SNV Uncertain significance 522258 rs557416644 GRCh37: 11:68682483-68682483
GRCh38: 11:68915015-68915015
30 IGHMBP2 NC_000011.9:g.68673706_68696651del Deletion Uncertain significance 637473 GRCh37: 11:68673706-68696651
GRCh38: 11:68906238-68929183
31 GARS1 NM_002047.4(GARS1):c.332C>T (p.Ala111Val) SNV Uncertain significance 637059 rs370531212 GRCh37: 7:30639570-30639570
GRCh38: 7:30599954-30599954
32 GARS1 NM_002047.4(GARS1):c.547C>T (p.Leu183Phe) SNV Uncertain significance 637893 rs1584024072 GRCh37: 7:30640794-30640794
GRCh38: 7:30601178-30601178
33 GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) SNV Uncertain significance 476747 rs1554338260 GRCh37: 7:30651830-30651830
GRCh38: 7:30612214-30612214
34 GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg) SNV Uncertain significance 410314 rs1060502838 GRCh37: 7:30661064-30661064
GRCh38: 7:30621448-30621448
35 GARS1 NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) SNV Uncertain significance 9207 rs137852646 GRCh37: 7:30668214-30668214
GRCh38: 7:30628598-30628598
36 IGHMBP2 NM_002180.2(IGHMBP2):c.1060+1G>T SNV Uncertain significance 637899 rs1366461184 GRCh37: 11:68685352-68685352
GRCh38: 11:68917884-68917884
37 IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) SNV Uncertain significance 245627 rs201060167 GRCh37: 11:68696672-68696672
GRCh38: 11:68929204-68929204
38 IGHMBP2 NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) SNV Uncertain significance 573815 rs759641927 GRCh37: 11:68696746-68696746
GRCh38: 11:68929278-68929278
39 IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) SNV Uncertain significance 488694 rs991227431 GRCh37: 11:68703761-68703761
GRCh38: 11:68936293-68936293
40 IGHMBP2 NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) Deletion Uncertain significance 637901 rs1332319177 GRCh37: 11:68673570-68673570
GRCh38: 11:68906102-68906102
41 IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) SNV Uncertain significance 561032 rs1000091588 GRCh37: 11:68702842-68702842
GRCh38: 11:68935374-68935374
42 IGHMBP2 NM_002180.2(IGHMBP2):c.1235+3A>G SNV Uncertain significance 637902 rs1369278472 GRCh37: 11:68696828-68696828
GRCh38: 11:68929360-68929360
43 IGHMBP2 NM_002180.2(IGHMBP2):c.1334A>C (p.His445Pro) SNV Uncertain significance 637903 rs571142182 GRCh37: 11:68700865-68700865
GRCh38: 11:68933397-68933397
44 IGHMBP2 NM_002180.2(IGHMBP2):c.1648_1649insG (p.Gln550fs) Insertion Uncertain significance 637904 rs1594454167 GRCh37: 11:68702782-68702783
GRCh38: 11:68935314-68935315
45 IGHMBP2 NM_002180.2(IGHMBP2):c.1748A>T (p.Asn583Ile) SNV Uncertain significance 637905 rs1594454388 GRCh37: 11:68702882-68702882
GRCh38: 11:68935414-68935414
46 IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) SNV Uncertain significance 235774 rs151079750 GRCh37: 11:68703756-68703756
GRCh38: 11:68936288-68936288
47 IGHMBP2 NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) SNV Uncertain significance 637906 rs1479493690 GRCh37: 11:68673613-68673613
GRCh38: 11:68906145-68906145
48 IGHMBP2 NM_002180.2(IGHMBP2):c.1969C>T (p.Gln657Ter) SNV Uncertain significance 637907 rs866417417 GRCh37: 11:68703917-68703917
GRCh38: 11:68936449-68936449
49 IGHMBP2 NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) SNV Uncertain significance 581680 rs770111639 GRCh37: 11:68702827-68702827
GRCh38: 11:68935359-68935359
50 IGHMBP2 NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) Deletion Uncertain significance 637908 rs750994603 GRCh37: 11:68704302-68704302
GRCh38: 11:68936834-68936834

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.8 TDRKH MT-ATP6 GARS1

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.62 IGHMBP2 GARS1

Sources for Charcot-Marie-Tooth Hereditary Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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