CMT
MCID: CHR071
MIFTS: 65

Charcot-Marie-Tooth Disease (CMT)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease

MalaCards integrated aliases for Charcot-Marie-Tooth Disease:

Name: Charcot-Marie-Tooth Disease 12 74 52 25 53 36 29 54 6 42 15 39 71
Hereditary Motor and Sensory Neuropathy 52 25
Hmsn 52 25
Cmt 52 25
Pma 25 17
Charcot-Marie-Tooth Hereditary Neuropathy 25
Hereditary Motor and Sensory Neuropathies 71
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 25
Charcot Marie Tooth Disease 52
Peroneal Muscular Atrophy 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
KEGG 36 H00264
ICD9CM 34 356.1
MeSH 43 D002607
NCIt 49 C75467
ICD10 32 G60.0
UMLS 71 C0007959 C0027888

Summaries for Charcot-Marie-Tooth Disease

Genetics Home Reference : 25 Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness. There are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes. Sometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome.

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease and deafness, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Disease is MORC2 (MORC Family CW-Type Zinc Finger 2), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Neural Crest Differentiation. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, brain and spinal cord, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Disease Ontology : 12 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

NIH Rare Diseases : 52 Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, "slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy , occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page . Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.

MedlinePlus : 42 Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 53 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, and nearly all cases are inherited. CMT damages the body's peripheral nerves, making them unable to activate muscles or relay sensory informaton from the limbs back to the spinal cord and the brain. There are different types of CMT disease, which may share some symptoms but vary by pattern of inheritance and age of onset. Early symptoms typically include weakness or paralysis of the foot and lower leg muscles. As the disease progresses, weakness and decreased muscle bulk may occur in the hands, arms, legs, or feet. People may lose the ability to feel heat, cold, and touch. Chronic shortening of muscles or tendons around joints prevents the joints from moving freely, and muscle cramping is common. Some people have pain that can range from mild to severe. Genetic testing can detect the most common types of CMT.

KEGG : 36 Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT. Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis.

Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathies of the peripheral... more...

Related Diseases for Charcot-Marie-Tooth Disease

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show top 50) (show all 723)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 38.6 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
2 charcot-marie-tooth disease and deafness 38.1 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
3 charcot-marie-tooth disease, demyelinating, type 1c 37.8 SH3TC2 SBF2 PRX PMP22 NEFL MPZ
4 charcot-marie-tooth disease, demyelinating, type 1a 37.7 SH3TC2 SBF2 PRX PMP22 NEFL MPZ
5 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 37.6 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 37.6 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
7 charcot-marie-tooth disease, demyelinating, type 1b 37.6 SH3TC2 SBF2 PRX PMP22 MPZ MFN2
8 charcot-marie-tooth disease, x-linked dominant, 1 37.5 SH3TC2 PRX PMP22 NEFL MPZ MFN2
9 charcot-marie-tooth disease, type 4a 37.4 SH3TC2 SBF2 PRX MPZ MFN2 LITAF
10 hypertrophic neuropathy of dejerine-sottas 37.3 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
11 charcot-marie-tooth disease, demyelinating, type 4f 37.3 SH3TC2 SBF2 PRX MPZ LITAF GJB1
12 charcot-marie-tooth disease, type 4b2 37.2 SH3TC2 SBF2 PRX MPZ LITAF GJB1
13 charcot-marie-tooth disease, axonal, type 2j 37.2 SH3TC2 SBF2 PRX NEFL MPZ KIF1B
14 charcot-marie-tooth disease, axonal, type 2f 37.2 NEFL MPZ MFN2 LITAF KIF1B HSPB1
15 charcot-marie-tooth disease, axonal, type 2b 37.2 SH3TC2 SBF2 NEFL MPZ LITAF KIF1B
16 charcot-marie-tooth disease, type 4c 37.2 SH3TC2 SBF2 NDRG1 MPZ LITAF KIF1B
17 charcot-marie-tooth disease, type 4d 37.2 SH3TC2 SBF2 NDRG1 MPZ LITAF GJB1
18 charcot-marie-tooth disease, demyelinating, type 1d 37.2 PRX PMP22 MPZ LITAF KIF1B GJB1
19 charcot-marie-tooth disease, type 4b1 37.1 SH3TC2 SBF2 PRX MPZ LITAF GDAP1
20 charcot-marie-tooth disease, axonal, type 2d 37.1 SH3TC2 NEFL MPZ MFN2 KIF1B GJB1
21 charcot-marie-tooth disease, type 4h 37.1 SH3TC2 SBF2 PRX NDRG1 MPZ GDAP1
22 charcot-marie-tooth disease, type 4j 37.1 SH3TC2 SBF2 PRX MPZ LITAF GDAP1
23 charcot-marie-tooth disease, axonal, type 2i 37.1 SH3TC2 PRX NEFL MPZ KIF1B GJB1
24 charcot-marie-tooth disease, axonal, type 2b2 37.0 NEFL MPZ MFN2 LRSAM1 KIF1B GDAP1
25 charcot-marie-tooth disease, demyelinating, type 1f 37.0 SBF2 NEFL MPZ LITAF KIF1B GJB1
26 charcot-marie-tooth disease, axonal, type 2l 36.9 NEFL MPZ MFN2 KIF1B HSPB1 GDAP1
27 charcot-marie-tooth disease type x 36.9 SH3TC2 PMP22 MPZ MFN2 LITAF KIF1B
28 charcot-marie-tooth disease, axonal, type 2a1 36.8 MPZ MFN2 LRSAM1 KIF1B GDAP1 GARS1
29 charcot-marie-tooth disease, dominant intermediate b 36.8 SH3TC2 SBF2 MPZ LITAF GJB1 GDAP1
30 charcot-marie-tooth disease intermediate type 36.7 SH3TC2 SBF2 MPZ MFN2 LRSAM1 LITAF
31 charcot-marie-tooth disease, axonal, type 2b1 36.6 MFN2 LRSAM1 LMNA GDAP1
32 charcot-marie-tooth disease, type 4b3 36.6 SH3TC2 SBF2 PMP22 MPZ GDAP1
33 charcot-marie-tooth disease, dominant intermediate e 36.5 SH3TC2 SBF2 MPZ GDAP1
34 hereditary motor and sensory neuropathy, type iic 36.5 SH3TC2 NEFL MPZ MFN2 KIF1B GJB1
35 charcot-marie-tooth disease, axonal, type 2t 36.5 SH3TC2 SBF2 LRSAM1 GDAP1
36 charcot-marie-tooth disease, dominant intermediate c 36.5 MPZ GJB1 GDAP1 GARS1
37 charcot-marie-tooth disease, axonal, type 2p 36.4 LRSAM1 LITAF GDAP1
38 charcot-marie-tooth disease, dominant intermediate a 36.4 PRX MPZ GJB1 GDAP1
39 charcot-marie-tooth disease, axonal, type 2n 36.4 KIF1B GDAP1 GARS1
40 charcot-marie-tooth disease, x-linked recessive, 2 36.4 MPZ MFN2 LITAF GJB1 EGR2
41 charcot-marie-tooth disease, axonal, type 2w 36.4 MPZ MFN2 GJB1 GDAP1
42 tooth disease 36.4 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
43 charcot-marie-tooth disease, dominant intermediate d 36.3 SH3TC2 MPZ KIF1B
44 neuropathy, hereditary, with liability to pressure palsies 36.2 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1
45 charcot-marie-tooth disease, type 4k 36.2 SH3TC2 LITAF
46 charcot-marie-tooth disease, axonal, type 2h 36.1 LRSAM1 GDAP1
47 charcot-marie-tooth disease, recessive intermediate a 36.1 MFN2 GDAP1
48 charcot-marie-tooth disease, axonal, type 2u 36.1 GJB1 GARS1
49 charcot-marie-tooth disease, axonal, type 2r 36.1 LRSAM1 GDAP1
50 charcot-marie-tooth disease type 2a2a 35.9 MFN2 LRSAM1

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



Diseases related to Charcot-Marie-Tooth Disease

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease

UMLS symptoms related to Charcot-Marie-Tooth Disease:


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

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 EGR2 GJB1 HSPB1 LMNA MPZ NDRG1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1
2 growth/size/body region MP:0005378 10.21 EGR2 FGD4 FIG4 GARS1 GJB1 HSPB1
3 homeostasis/metabolism MP:0005376 10.13 EGR2 GDAP1 GJB1 HSPB1 KIF1B LITAF
4 nervous system MP:0003631 9.93 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1
5 muscle MP:0005369 9.81 FIG4 GARS1 KIF1B LMNA MFN2 MORC2
6 limbs/digits/tail MP:0005371 9.8 EGR2 FIG4 GDAP1 KIF1B LMNA MORC2
7 skeleton MP:0005390 9.28 EGR2 FIG4 KIF1B LMNA MFN2 MORC2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

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

(show all 32)
# 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 Micronutrients Phase 4
4 Vitamins Phase 4
5 Antioxidants Phase 4
6 Nutrients Phase 4
7 Protective Agents Phase 4
8 Alpha-lipoic Acid Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Thioctic Acid Phase 4
12 Vitamin B9 Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Baclofen Approved Phase 3 1134-47-0 2284
17
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
18 carnitine Phase 2, Phase 3
19 Pharmaceutical Solutions Phase 3
20 Hematinics Phase 2, Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Epoetin alfa Phase 2, Phase 3 113427-24-0
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
25 Ubiquinone Phase 1, Phase 2
26 Ulipristal acetate Phase 2 126784-99-4
27 Analgesics
28 Insulin, Globin Zinc
29 Hemostatics
30 insulin
31 Immunologic Factors
32 Immunosuppressive Agents

Interventional clinical trials:

(show top 50) (show all 61)
# 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 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
11 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
12 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
13 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
14 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
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 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
17 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
18 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
19 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
20 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
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 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
24 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
25 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
26 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
27 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
28 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
29 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
30 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
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 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
37 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
38 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
39 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
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 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
43 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
44 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
45 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
46 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093
47 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
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 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

Genetic tests related to Charcot-Marie-Tooth Disease:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease 29 CNTNAP1 DCTN2 DRP2 MCM3AP MORC2 SGPL1 WARS1

Anatomical Context for Charcot-Marie-Tooth Disease

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

40
Brain, Spinal Cord, Testes, Skin, Skeletal Muscle, Thyroid, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Peripheral Nervous System Peripheral Nerve Domain Myelinating Schwann Cells Affected by disease

Publications for Charcot-Marie-Tooth Disease

Articles related to Charcot-Marie-Tooth Disease:

(show top 50) (show all 3512)
# Title Authors PMID Year
1
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease. 61 42
32122354 2020
2
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. 61 42
31827005 2020
3
Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report. 42 61
31842800 2019
4
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. 54 61
20513111 2010
5
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 61 54
20418531 2010
6
Dynamin 2 and human diseases. 61 54
20127478 2010
7
Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. 54 61
20163430 2010
8
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 54 61
20178975 2010
9
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 61 54
19888301 2010
10
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 54 61
20037586 2010
11
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 54 61
20039784 2010
12
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 61 54
19932620 2010
13
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. 61 54
20453308 2010
14
YY1-dependent transcriptional regulation of the human GDAP1 gene. 61 54
19720140 2009
15
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]. 54 61
20193559 2009
16
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. 61 54
20193560 2009
17
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. 61 54
19923170 2009
18
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 61 54
19782751 2009
19
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 61 54
20008656 2009
20
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 61 54
19259128 2009
21
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 61 54
19293842 2009
22
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 61 54
19427854 2009
23
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 54 61
19500985 2009
24
PMP22 expression in dermal nerve myelin from patients with CMT1A. 54 61
19447823 2009
25
Functional and comparative genomics analyses of pmp22 in medaka fish. 54 61
19534778 2009
26
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 54 61
19089472 2009
27
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 61 54
19321787 2009
28
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. 54 61
19718987 2009
29
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease. 54 61
20225023 2009
30
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. 54 61
19192070 2008
31
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. 61 54
18655835 2008
32
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. 54 61
18549403 2008
33
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. 54 61
18492089 2008
34
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. 61 54
18663734 2008
35
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. 61 54
18563718 2008
36
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 54 61
18560793 2008
37
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. 61 54
18587268 2008
38
[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. 61 54
18616154 2008
39
Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants. 61 54
18353664 2008
40
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. 54 61
18379723 2008
41
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. 61 54
18231710 2008
42
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 61 54
17825552 2007
43
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 54 61
18386326 2007
44
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 54 61
18386329 2007
45
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1. 54 61
18383612 2007
46
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 54 61
17881652 2007
47
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 61 54
17940173 2007
48
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 54 61
17717711 2007
49
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 61 54
17636067 2007
50
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. 54 61
17620486 2007

Variations for Charcot-Marie-Tooth Disease

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease:

6 (show top 50) (show all 3201) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPZ NM_000530.8(MPZ):c.224A>T (p.Asp75Val)SNV Pathogenic 14184 rs121913597 1:161277058-161277058 1:161307268-161307268
2 MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)SNV Pathogenic 14185 rs121913598 1:161277151-161277151 1:161307361-161307361
3 MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)SNV Pathogenic 14188 rs121913601 1:161277049-161277049 1:161307259-161307259
4 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met)SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785
5 LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203
6 LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)SNV Pathogenic 14488 rs60864230 1:156100449-156100449 1:156130658-156130658
7 LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)SNV Pathogenic 14489 rs57920071 1:156106775-156106775 1:156136984-156136984
8 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
9 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His)SNV Pathogenic 14499 rs57520892 1:156106995-156106995 1:156137204-156137204
10 EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563
11 GJB1 NM_000166.6(GJB1):c.187G>A (p.Val63Ile)SNV Pathogenic 21081 rs116840818 X:70443744-70443744 X:71223894-71223894
12 GJB1 NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)SNV Pathogenic 21082 rs116840819 X:70443780-70443780 X:71223930-71223930
13 GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)SNV Pathogenic 21084 rs116840815 X:70443600-70443600 X:71223750-71223750
14 GJB1 NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)SNV Pathogenic 21086 rs116840821 X:70444113-70444113 X:71224263-71224263
15 RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs)deletion Pathogenic 21257 rs137852736 5:16617062-16617063 5:16616953-16616954
16 SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763
17 DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)SNV Pathogenic 30029 rs387906738 14:102446843-102446843 14:101980506-101980506
18 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
19 ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys)SNV Pathogenic 30579 rs1555365597 14:51089912-51089912 14:50623194-50623194
20 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs)duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847
21 GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)SNV Pathogenic 38411 rs281865060 8:75272408-75272408 8:74360173-74360173
22 FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg)SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217
23 EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His)SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496
24 MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His)SNV Pathogenic 41017 rs281865124 1:161276702-161276702 1:161306912-161306912
25 MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)SNV Pathogenic 41024 rs267607247 1:161275743-161275743 1:161305953-161305953
26 NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)SNV Pathogenic 41236 rs58982919 8:24813737-24813737 8:24956223-24956223
27 LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)SNV Pathogenic 41229 rs281865134 16:11647434-11647434 16:11553578-11553578
28 GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg)SNV Pathogenic 50558 rs397515442 8:75272429-75272429 8:74360194-74360194
29 NEFL NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)SNV Pathogenic 66671 rs62636503 8:24811293-24811293 8:24953779-24953779
30 NEFL NM_006158.4(NEFL):c.23C>A (p.Pro8Gln)SNV Pathogenic 66687 rs61491953 8:24814007-24814007 8:24956493-24956493
31 LMNA NM_170707.4(LMNA):c.1908C>T (p.Ser636=)SNV Pathogenic 66875 rs80356814 1:156108488-156108488 1:156138697-156138697
32 NEFL NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu)SNV Pathogenic 155738 rs587777882 8:24811160-24811160 8:24953646-24953646
33 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
34 MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)SNV Pathogenic 187857 rs781249411 12:57909709-57909709 12:57515926-57515926
35 GJB1 NM_000166.6(GJB1):c.116C>T (p.Ala39Val)SNV Pathogenic 188136 rs786204095 X:70443673-70443673 X:71223823-71223823
36 NEFL NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)SNV Pathogenic 192322 rs191346286 8:24811218-24811218 8:24953704-24953704
37 MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025
38 MPZ NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)SNV Pathogenic 208149 rs121913586 1:161276204-161276204 1:161306414-161306414
39 MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426
40 MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311
41 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>ASNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009
42 SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=)SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862
43 GJB1 NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)SNV Pathogenic 216038 rs779696968 X:70443862-70443862 X:71224012-71224012
44 MPZ NM_000530.8(MPZ):c.646-10_650deldeletion Pathogenic 217234 rs863225026 1:161275763-161275777 1:161305973-161305987
45 MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met)SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402
46 PMP22 NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)SNV Pathogenic 217237 rs863225028 17:15134390-15134390 17:15231073-15231073
47 DNAJB2 NM_006736.6(DNAJB2):c.352+1G>ASNV Pathogenic 217886 rs756614404 2:220146784-220146784 2:219282062-219282062
48 MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503
49 MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)SNV Pathogenic 218308 rs864309504 22:31345795-31345795 22:30949809-30949809
50 MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386

Copy number variations for Charcot-Marie-Tooth Disease from CNVD:

7 (show all 19)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 15789 1 11962824 11996159 Copy number MFN2 Charcot-marie-tooth disease
2 16677 1 129927668 130016331 Copy number RAB7 Charcot-marie-tooth disease
3 21558 1 159541148 159546386 Copy number MPZ Charcot-marie-tooth disease
4 44856 10 64241762 64248933 Copy number EGR2 Charcot-marie-tooth disease
5 61129 11 95205693 95297019 Copy number MTMR2 Charcot-marie-tooth disease
6 63372 12 118100977 118116934 Copy number HSPB8 Charcot-marie-tooth disease
7 64536 12 129300000 133851895 Heterozygous duplication PMP22 Charcot-marie-tooth disease
8 97625 16 11549356 11588823 Copy number LITAF Charcot-marie-tooth disease
9 106965 17 10700000 16000000 Duplication PMP22 Charcot-marie-tooth disease
10 107010 17 11200000 22100000 Duplication,deletion PMP22 Charcot-marie-tooth disease
11 107372 17 15073820 15109369 Copy number PMP22 Charcot-marie-tooth disease
12 107373 17 15073820 15109369 Deletion PMP22 Charcot-marie-tooth disease
13 107542 17 15900000 22100000 Microdeletion Charcot-marie-tooth disease
14 109385 17 25800000 31800000 Amplification PMP22 Charcot-marie-tooth disease
15 195048 5 147909892 148422930 Copy number SH3TC2 Charcot-marie-tooth disease
16 228313 7 75769858 75771546 Copy number HSPB1 Charcot-marie-tooth disease
17 237596 8 24864385 24870043 Copy number NEFL Charcot-marie-tooth disease
18 242862 8 75425172 75441890 Copy number GDAP1 Charcot-marie-tooth disease
19 264803 X 70351786 70361777 Copy number GJB1 Charcot-marie-tooth disease

Expression for Charcot-Marie-Tooth Disease

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

Pathways for Charcot-Marie-Tooth Disease

Pathways related to Charcot-Marie-Tooth Disease according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

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

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

GO Terms for Charcot-Marie-Tooth Disease

Cellular components related to Charcot-Marie-Tooth Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 SBF2 NEFL NDRG1 MORC2 MFN2 LRSAM1
2 cytoplasm GO:0005737 9.8 SBF2 PRX NEFL NDRG1 MORC2 LRSAM1
3 axon cytoplasm GO:1904115 8.8 NEFL KIF1B HSPB1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.26 MFN2 GDAP1
2 myelination GO:0042552 9.26 SBF2 PMP22 MPZ EGR2
3 myelin assembly GO:0032288 9.16 PMP22 FIG4
4 peripheral nervous system myelin maintenance GO:0032287 8.8 SH3TC2 PRX NDRG1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 SH3TC2 SBF2 PRX PMP22 NEFL NDRG1

Sources for Charcot-Marie-Tooth Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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