DHMN
MCID: CHR453
MIFTS: 45

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 24
Distal Spinal Muscular Atrophy 52 58 29 6
Distal Hereditary Motor Neuropathy 24 52 58
Dhmn 24 52 58
Dsma 52 58
Hereditary Motor/sensory Neuropathy 24
Spinal Muscular Atrophy Distal 54
Charcot-Marie-Tooth Disease 71
Hmsn 24

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0393541
Orphanet 58 ORPHA53739
UMLS 71 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 spinal muscular atrophy, distal, autosomal recessive, 2 and autosomal dominant distal hereditary motor neuronopathy, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Hereditary Neuropathy is GARS1 (Glycyl-TRNA Synthetase 1). The drugs Folic acid and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include thyroid, spinal cord and testes, and related phenotype is muscle.

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 X Type 1
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 202)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 2 33.1 TRPV4 GARS1
2 autosomal dominant distal hereditary motor neuronopathy 33.1 TRPV4 IGHMBP2
3 amyotrophic lateral sclerosis 4, juvenile 32.4 SETX IGHMBP2
4 spinal muscular atrophy, distal, autosomal recessive, 1 31.9 SETX MORC2 IGHMBP2
5 distal hereditary motor neuropathies 31.7 TRPV4 SPG7 SETX MORC2 IGHMBP2 GARS1
6 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 31.1 TRPV4 MT-ATP6 MORC2 IGHMBP2 GARS1
7 charcot-marie-tooth disease 30.4 TRPV4 SETX MT-ATP6 MORC2 IGHMBP2 GARS1
8 sensory peripheral neuropathy 30.4 TRPV4 GARS1
9 hereditary motor and sensory neuropathy, type iic 30.2 TRPV4 GARS1
10 peripheral nervous system disease 30.1 TRPV4 MT-ATP6 GARS1
11 axonal neuropathy 29.9 TRPV4 SETX GARS1
12 juvenile amyotrophic lateral sclerosis 29.8 SETX IGHMBP2
13 neuromuscular disease 29.5 TRPV4 IGHMBP2 GARS1
14 tooth disease 29.5 TRPV4 MT-ATP6 MORC2 IGHMBP2 GARS1
15 polyneuropathy 29.5 SPG7 MT-ATP6 IGHMBP2
16 charcot-marie-tooth disease and deafness 29.4 TRPV4 GARS1
17 optic nerve disease 29.4 SPG7 MT-ATP6
18 neuropathy 29.4 TRPV4 SETX MT-ATP6 IGHMBP2 GARS1
19 hereditary spastic paraplegia 29.3 SPG7 SETX MT-ATP6
20 muscular atrophy 29.1 TRPV4 SETX MORC2 IGHMBP2 GARS1
21 spinal muscular atrophy 28.9 TRPV4 SETX MORC2 IGHMBP2 GARS1
22 motor peripheral neuropathy 28.9 TRPV4 SETX IGHMBP2 GARS1
23 autosomal recessive distal hereditary motor neuropathy 12.7
24 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 12.6
25 x-linked distal hereditary motor neuropathy 12.6
26 distal hereditary motor neuropathy type 7 12.6
27 neuronopathy, distal hereditary motor, type va 12.5
28 obsolete: distal spinal muscular atrophy 12.5
29 distal hereditary motor neuronopathy type 2 12.4
30 spinal muscular atrophy, distal, autosomal recessive, 4 12.4
31 neuronopathy, distal hereditary motor, type iib 12.3
32 neuronopathy, distal hereditary motor, type iia 12.3
33 neuronopathy, distal hereditary motor, type viia 12.2
34 neuronopathy, distal hereditary motor, type viib 12.2
35 neuronopathy, distal hereditary motor, type iic 12.1
36 neuronopathy, distal hereditary motor, type iid 12.1
37 spinal muscular atrophy, distal, x-linked 3 11.9
38 distal hereditary motor neuronopathy type 7 11.8
39 encephalopathy, progressive, with amyotrophy and optic atrophy 11.8
40 autosomal recessive distal hereditary motor neuronopathy 11.8
41 spastic paraplegia 17, autosomal dominant 11.8
42 neuronopathy, distal hereditary motor, type vb 11.8
43 spinal muscular atrophy, distal, autosomal recessive, 5 11.8
44 neuronopathy, distal hereditary motor, type ix 11.8
45 hypertrophic neuropathy of dejerine-sottas 11.7
46 charcot-marie-tooth disease, type 4d 11.7
47 charcot-marie-tooth disease, x-linked dominant, 1 11.7
48 neuronopathy, distal hereditary motor, type i 11.6
49 spinal muscular atrophy, distal, autosomal recessive, 3 11.6
50 roussy-levy hereditary areflexic dystasia 11.6

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 GARS1 IGHMBP2 MORC2 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 all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Vitamins Phase 4
3 Trace Elements Phase 4
4 Micronutrients Phase 4
5 Nutrients Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Alpha-lipoic Acid Phase 4
9 Vitamin B Complex Phase 4
10 Vitamin B9 Phase 4
11 Folate Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Baclofen Approved Phase 3 1134-47-0 2284
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
18 carnitine Phase 2, Phase 3
19 Nootropic Agents Phase 2, Phase 3
20 Pharmaceutical Solutions Phase 3
21 Hematinics Phase 2, Phase 3
22 Epoetin alfa Phase 2, Phase 3 113427-24-0
23 Neuroprotective Agents Phase 2, Phase 3
24
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
25
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
26 Ubiquinone Phase 1, Phase 2
27 4-des-dimethylaminotetracycline Phase 1, Phase 2
28
protease inhibitors Phase 1, Phase 2
29 HIV Protease Inhibitors Phase 1, Phase 2
30 Matrix Metalloproteinase Inhibitors Phase 1, Phase 2
31 Ulipristal acetate Phase 2 126784-99-4
32 Contraceptive Agents Phase 2
33 Analgesics
34 Hemostatics
35 insulin
36 Insulin, Globin Zinc
37 Anti-Infective Agents, Local
38 Anti-Infective Agents
39 Carbon Fiber

Interventional clinical trials:

(show top 50) (show all 62)
# 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 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
5 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
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 International, Multi-center, Open Label, 9-month 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
8 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
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
10 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
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 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
13 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
14 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
15 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Recruiting NCT01562860 Phase 2
16 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Active, not recruiting NCT03124459 Phase 2 ACE-083;Placebo
17 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 Enrolling by invitation NCT03943290 Phase 2 ACE-083
18 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
19 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
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 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
24 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
25 Prospective Randomized Controlled Trial Comparing Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer. Unknown status NCT01751503
26 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
27 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
28 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
29 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
30 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
31 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
32 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
33 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
34 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
35 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
36 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
37 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
38 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
39 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
40 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
41 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
42 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
43 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
44 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
45 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
46 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Recruiting NCT03966287
47 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075
48 The Impact of Charcot-Marie-Tooth Disease in the Real World Recruiting NCT03782883
49 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Recruiting NCT01203085
50 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093

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
Thyroid, Spinal Cord, Testes, Breast, Brain, Cervix

Publications for Charcot-Marie-Tooth Hereditary Neuropathy

Articles related to Charcot-Marie-Tooth Hereditary Neuropathy:

(show top 50) (show all 154)
# Title Authors PMID Year
1
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. 24
29718187 2018
2
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. 24
29626178 2018
3
Pain in Charcot-Marie-Tooth disease: an update. 24
29742248 2018
4
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 24
29351582 2018
5
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. 24
29499166 2018
6
Updating the classification of inherited neuropathies: Results of an international survey. 24
29429969 2018
7
Natural history of Charcot-Marie-Tooth disease during childhood. 24
28796392 2017
8
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. 24
28190646 2017
9
Genetic heterogeneity of motor neuropathies. 24
28251916 2017
10
Hereditary neuropathies: An update. 24
27866730 2016
11
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. 24
27083531 2016
12
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. 24
27438001 2016
13
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. 24
27043305 2016
14
Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature. 24
27124017 2016
15
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies. 24
28018906 2016
16
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. 24
26855581 2016
17
Rehabilitation issues in Charcot-Marie-Tooth disease. 24
26966798 2016
18
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. 24
25850958 2016
19
Systematic review of exercise for Charcot-Marie-Tooth disease. 24
26010435 2015
20
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease. 24
25157034 2015
21
Clinical implications of genetic advances in Charcot-Marie-Tooth disease. 24
24018473 2013
22
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 24
23434117 2013
23
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 24
22933740 2012
24
Mechanisms of disease in hereditary sensory and autonomic neuropathies. 24
22270030 2012
25
Determinants of reduced health-related quality of life in pediatric inherited neuropathies. 24
20733147 2010
26
Diagnosis and new treatments in genetic neuropathies. 24
19917815 2009
27
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. 24
19539237 2009
28
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. 54 61
19430273 2009
29
Natural history and treatment of peripheral inherited neuropathies. 24
20225028 2009
30
Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. 24
19047708 2008
31
Charcot-Marie-tooth disease. 24
19825739 2008
32
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. 24
18797198 2008
33
Charcot-Marie-Tooth disease. 24
18334132 2008
34
Treatment for Charcot-Marie-Tooth disease. 24
18254090 2008
35
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. 24
17205227 2006
36
Current concepts review: orthopaedic aspects of Charcot-Marie-Tooth disease. 24
17144969 2006
37
Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 24
17060310 2006
38
Evaluation and treatment of hip dysplasia in Charcot-Marie-Tooth disease. 24
16638451 2006
39
Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. 24
16942454 2006
40
Handgrip impairment in Charcot-Marie-Tooth disease. 24
16200028 2005
41
Current Therapy for Charcot-Marie-Tooth Disease. 24
15610704 2005
42
Clinicopathological and genetic study of early-onset demyelinating neuropathy. 24
15469949 2004
43
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. 24
11445635 2001
44
Neuropathic pain in Charcot-Marie-Tooth disease. 24
9862301 1998
45
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. 24
8608515 1996
46
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. 61
31612903 2019
47
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. 61
31612906 2019
48
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2019
49
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. 61
31041394 2019
50
A novel mutation in VRK1 associated with distal spinal muscular atrophy. 61
30617279 2019

Variations for Charcot-Marie-Tooth Hereditary Neuropathy

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

6 (show top 50) (show all 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
2 MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503
3 IGHMBP2 NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter)SNV Pathogenic 228355 rs200089714 11:68673577-68673577 11:68906109-68906109
4 SETX NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)SNV Pathogenic 2289 rs29001584 9:135205819-135205819 9:132330432-132330432
5 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666
6 IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204
7 GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)SNV Pathogenic 476747 rs1554338260 7:30651830-30651830 7:30612214-30612214
8 IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293
9 IGHMBP2 NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)deletion Pathogenic 637908 11:68704302-68704302 11:68936834-68936834
10 GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg)SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448
11 IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374
12 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665
13 IGHMBP2 NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)SNV Pathogenic/Likely pathogenic 573815 rs759641927 11:68696746-68696746 11:68929278-68929278
14 IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)SNV Pathogenic/Likely pathogenic 620136 rs372181708 11:68700867-68700867 11:68933399-68933399
15 IGHMBP2 NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659
16 SETX NM_015046.7(SETX):c.8C>T (p.Thr3Ile)SNV Likely pathogenic 2290 rs28941475 9:135224808-135224808 9:132349421-132349421
17 TDRKH NM_001083965.2(TDRKH):c.986G>A (p.Arg329His)SNV Likely pathogenic 518454 rs375454176 1:151748973-151748973 1:151776497-151776497
18 IGHMBP2 NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter)SNV Likely pathogenic 522258 rs557416644 11:68682483-68682483 11:68915015-68915015
19 SETX NM_015046.7(SETX):c.6407G>A (p.Arg2136His)SNV Conflicting interpretations of pathogenicity 2291 rs121434378 9:135158790-135158790 9:132283403-132283403
20 PLEKHG5 NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser)SNV Conflicting interpretations of pathogenicity 198896 rs146651455 1:6533415-6533415 1:6473355-6473355
21 SH3TC2 NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)indel Conflicting interpretations of pathogenicity 216737 rs863224780 5:148407892-148407893 5:149028329-149028330
22 GARS1 NM_002047.4(GARS1):c.1716G>A (p.Pro572=)SNV Conflicting interpretations of pathogenicity 194367 rs370608239 7:30668192-30668192 7:30628576-30628576
23 IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288
24 PLEKHG5 NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr)SNV Conflicting interpretations of pathogenicity 246065 rs140817021 1:6534182-6534182 1:6474122-6474122
25 PLEKHG5 NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met)SNV Conflicting interpretations of pathogenicity 245660 rs141032388 1:6534643-6534643 1:6474583-6474583
26 PLEKHG5 NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys)SNV Conflicting interpretations of pathogenicity 245659 rs111400494 1:6536052-6536052 1:6475992-6475992
27 PLEKHG5 NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr)SNV Conflicting interpretations of pathogenicity 246031 rs140687324 1:6537598-6537598 1:6477538-6477538
28 GARS1 NM_002047.4(GARS1):c.302G>A (p.Arg101His)SNV Conflicting interpretations of pathogenicity 245685 rs200887429 7:30638491-30638491 7:30598875-30598875
29 GARS1 NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)SNV Conflicting interpretations of pathogenicity 9207 rs137852646 7:30668214-30668214 7:30628598-30628598
30 PLEKHG5 NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=)SNV Conflicting interpretations of pathogenicity 281726 rs139904931 1:6531575-6531575 1:6471515-6471515
31 PLEKHG5 NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=)SNV Conflicting interpretations of pathogenicity 284506 rs867638588 1:6529191-6529191 1:6469131-6469131
32 PLEKHG5 NM_020631.5(PLEKHG5):c.440-10C>TSNV Conflicting interpretations of pathogenicity 284648 rs201656051 1:6534234-6534234 1:6474174-6474174
33 PLEKHG5 NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=)SNV Conflicting interpretations of pathogenicity 287911 rs759272412 1:6528463-6528463 1:6468403-6468403
34 PLEKHG5 NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=)SNV Conflicting interpretations of pathogenicity 297946 rs61749272 1:6528565-6528565 1:6468505-6468505
35 PLEKHG5 NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys)SNV Conflicting interpretations of pathogenicity 297951 rs201551894 1:6529187-6529187 1:6469127-6469127
36 PLEKHG5 NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=)SNV Conflicting interpretations of pathogenicity 297962 rs111624565 1:6533112-6533112 1:6473052-6473052
37 PLEKHG5 NM_020631.5(PLEKHG5):c.439+12C>GSNV Conflicting interpretations of pathogenicity 297973 rs778853521 1:6534499-6534499 1:6474439-6474439
38 PLEKHG5 NM_001265594.2(PLEKHG5):c.2737+22_2737+24deldeletion Conflicting interpretations of pathogenicity 297934 rs536097668 1:6528135-6528137 1:6468075-6468077
39 PLEKHG5 NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup)short repeat Conflicting interpretations of pathogenicity 297949 rs113541584 1:6529182-6529183 1:6469122-6469123
40 PLEKHG5 NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys)SNV Conflicting interpretations of pathogenicity 297953 rs144245744 1:6529654-6529654 1:6469594-6469594
41 PLEKHG5 NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn)SNV Conflicting interpretations of pathogenicity 297961 rs61730399 1:6533102-6533102 1:6473042-6473042
42 PLEKHG5 NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg)SNV Conflicting interpretations of pathogenicity 297971 rs143484278 1:6534132-6534132 1:6474072-6474072
43 PLEKHG5 NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=)SNV Conflicting interpretations of pathogenicity 297937 rs367560509 1:6528262-6528262 1:6468202-6468202
44 PLEKHG5 NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr)SNV Conflicting interpretations of pathogenicity 297941 rs200162521 1:6528411-6528411 1:6468351-6468351
45 PLEKHG5 NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=)SNV Conflicting interpretations of pathogenicity 297942 rs184541137 1:6528439-6528439 1:6468379-6468379
46 PLEKHG5 NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup)short repeat Conflicting interpretations of pathogenicity 297950 rs113541584 1:6529182-6529183 1:6469122-6469123
47 PLEKHG5 NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=)SNV Conflicting interpretations of pathogenicity 297963 rs370572859 1:6533148-6533148 1:6473088-6473088
48 PLEKHG5 NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=)SNV Conflicting interpretations of pathogenicity 297978 rs144859183 1:6537599-6537599 1:6477539-6477539
49 PLEKHG5 NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=)SNV Conflicting interpretations of pathogenicity 297936 rs755539639 1:6528205-6528205 1:6468145-6468145
50 PLEKHG5 NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=)SNV Conflicting interpretations of pathogenicity 297943 rs369876443 1:6528469-6528469 1:6468409-6468409

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 axon GO:0030424 9.33 SETX IGHMBP2 GARS1
2 cell projection GO:0042995 9.26 TRPV4 SETX IGHMBP2 GARS1
3 growth cone GO:0030426 8.8 TRPV4 SETX IGHMBP2

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

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 8.96 SETX IGHMBP2
2 DNA duplex unwinding GO:0032508 8.62 SETX IGHMBP2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.46 TRPV4 SETX IGHMBP2 GARS1
2 nucleotide binding GO:0000166 9.43 TRPV4 SETX IGHMBP2
3 hydrolase activity GO:0016787 9.35 SPG7 SETX MORC2 IGHMBP2 GARS1
4 DNA helicase activity GO:0003678 9.32 SETX IGHMBP2
5 ATP binding GO:0005524 9.1 TRPV4 SPG7 SETX MORC2 IGHMBP2 GARS1

Sources for Charcot-Marie-Tooth Hereditary Neuropathy

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