Charcot-Marie-Tooth Disease (CMT)

Categories: Ear diseases, 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 73 20 43 53 36 29 54 6 42 15 39 70
Hereditary Motor and Sensory Neuropathy 20 43
Hmsn 20 43
Cmt 20 43
Pma 43 17
Charcot-Marie-Tooth Hereditary Neuropathy 43
Hereditary Motor and Sensory Neuropathies 70
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 43
Charcot Marie Tooth Disease 20
Peroneal Muscular Atrophy 43


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Disease Ontology 12 DOID:10595
KEGG 36 H00264
ICD9CM 34 356.1
MeSH 44 D002607
NCIt 50 C75467
SNOMED-CT 67 193158000
ICD10 32 G60.0
UMLS 70 C0007959 C0027888

Summaries for Charcot-Marie-Tooth Disease

MedlinePlus Genetics : 43 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 MPZ (Myelin Protein Zero), 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, spinal cord and eye, and related phenotypes are Decreased viability and Decreased viability

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.

GARD : 20 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 : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... 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 766)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 35.7 TRPV4 SH3TC2 PRX PMP22 NEFL NDRG1
2 charcot-marie-tooth disease and deafness 35.4 TRPV4 SH3TC2 PRX PMP22 NEFL NDRG1
3 neuropathy, congenital hypomyelinating, 1, autosomal recessive 35.2 TRPV4 SH3TC2 PRX PMP22 NEFL NDRG1
4 charcot-marie-tooth disease, demyelinating, type 1c 35.0 SH3TC2 PRX PMP22 NEFL NDRG1 MPZ
5 charcot-marie-tooth disease, demyelinating, type 1b 34.9 SH3TC2 PRX PMP22 NEFL MPZ MFN2
6 hypertrophic neuropathy of dejerine-sottas 34.9 SH3TC2 PRX PMP22 NEFL NDRG1 MPZ
7 charcot-marie-tooth disease, axonal, type 2b 34.9 SH3TC2 NEFL MPZ MFN2 LITAF KIF1B
8 charcot-marie-tooth disease, type 4b2 34.9 SH3TC2 PRX NEFL NDRG1 MPZ MFN2
9 charcot-marie-tooth disease, demyelinating, type 1a 34.9 SH3TC2 PRX PMP22 NEFL MPZ MFN2
10 tooth disease 34.9 NDRG1 MPZ MFN2 LRSAM1 LMNA LITAF
11 charcot-marie-tooth disease, axonal, type 2f 34.8 NEFL MPZ MFN2 LITAF KIF1B HSPB8
12 charcot-marie-tooth disease, type 4a 34.8 SH3TC2 PRX MPZ MFN2 LITAF KIF1B
13 charcot-marie-tooth disease, axonal, type 2d 34.8 SH3TC2 PMP22 NEFL MPZ MFN2 HSPB8
14 charcot-marie-tooth disease, x-linked dominant, 1 34.8 SH3TC2 PRX PMP22 NEFL MPZ MFN2
15 charcot-marie-tooth disease, axonal, type 2b2 34.8 NEFL MPZ MFN2 LRSAM1 KIF1B HSPB8
16 charcot-marie-tooth disease, axonal, type 2i 34.7 SH3TC2 PRX NEFL MPZ KIF1B HSPB8
17 hereditary motor and sensory neuropathy, type iic 34.7 TRPV4 SH3TC2 NEFL MPZ MFN2 HSPB8
18 charcot-marie-tooth disease, type 4d 34.6 SH3TC2 PRX NDRG1 MPZ LITAF GJB1
19 charcot-marie-tooth disease, demyelinating, type 1d 34.6 PRX PMP22 NDRG1 MPZ LITAF GJB1
20 charcot-marie-tooth disease, axonal, type 2a1 34.6 MPZ MFN2 LRSAM1 KIF1B HSPB8 GDAP1
21 charcot-marie-tooth disease, axonal, type 2l 34.6 NEFL MPZ MFN2 KIF1B HSPB8 HSPB1
22 charcot-marie-tooth disease, type 4c 34.6 SH3TC2 NDRG1 MPZ LITAF GJB1 GDAP1
23 charcot-marie-tooth disease, type 4b1 34.5 SH3TC2 PRX MPZ LITAF GDAP1 FIG4
24 charcot-marie-tooth disease, type 4j 34.5 SH3TC2 PRX MPZ LITAF GDAP1 FIG4
25 charcot-marie-tooth disease, demyelinating, type 4f 34.5 SH3TC2 PRX MPZ LITAF GDAP1 FIG4
26 charcot-marie-tooth disease, demyelinating, type 1f 34.5 NEFL MPZ LITAF KIF1B GJB1 GDAP1
27 charcot-marie-tooth disease, axonal, type 2j 34.4 SH3TC2 PRX NEFL MPZ GDAP1
28 charcot-marie-tooth disease, axonal, type 2b1 34.4 MFN2 LRSAM1 LMNA GDAP1
29 charcot-marie-tooth disease, type 4h 34.4 SH3TC2 PRX MPZ GDAP1 FIG4
30 charcot-marie-tooth disease, dominant intermediate b 34.3 SH3TC2 MPZ LITAF GDAP1
31 charcot-marie-tooth disease, axonal, type 2t 34.3 SH3TC2 LRSAM1 IGHMBP2 GDAP1
32 charcot-marie-tooth disease, dominant intermediate c 34.3 MPZ GJB1 GDAP1 GARS1 AARS1
33 charcot-marie-tooth disease, axonal, type 2p 34.3 LRSAM1 LITAF GDAP1
34 charcot-marie-tooth disease intermediate type 34.2 SH3TC2 MPZ MFN2 LRSAM1 LITAF GJB1
35 charcot-marie-tooth disease, axonal, type 2n 34.2 GDAP1 GARS1 AARS1
36 charcot-marie-tooth disease, type 4b3 34.2 SH3TC2 PMP22 MPZ GDAP1
37 charcot-marie-tooth disease, dominant intermediate e 34.2 SH3TC2 MPZ GDAP1
38 charcot-marie-tooth disease, recessive intermediate a 34.2 MFN2 HSPB8 GDAP1
39 charcot-marie-tooth disease, axonal, type 2u 34.2 GJB1 GARS1 AARS1
40 charcot-marie-tooth disease, axonal, type 2w 34.2 MPZ GJB1 GDAP1
41 charcot-marie-tooth disease, dominant intermediate a 34.1 PRX MPZ GJB1 GDAP1
42 charcot-marie-tooth disease, x-linked recessive, 2 34.1 MPZ MFN2 LITAF GJB1
43 charcot-marie-tooth disease, dominant intermediate d 34.1 SH3TC2 MPZ KIF1B
44 neuropathy, hereditary motor and sensory, russe type 34.1 SH3TC2 NDRG1 GDAP1
45 charcot-marie-tooth disease type x 34.1 SH3TC2 PMP22 NEFL MPZ MFN2 LITAF
46 charcot-marie-tooth disease, type 4k 34.1 SH3TC2 LITAF
47 neuropathy 34.0 TRPV4 SH3TC2 PRX PMP22 NEFL MPZ
48 charcot-marie-tooth disease, axonal, type 2k 34.0 HSPB8 GDAP1
49 charcot-marie-tooth disease, axonal, type 2r 34.0 LRSAM1 GDAP1
50 charcot-marie-tooth disease, axonal, type 2h 33.9 LRSAM1 GDAP1

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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.8 GJB1
2 Decreased viability GR00055-A-2 9.8 GJB1
3 Decreased viability GR00107-A-1 9.8 HSPB8
4 Decreased viability GR00221-A-1 9.8 HSPB8
5 Decreased viability GR00221-A-4 9.8 HSPB8
6 Decreased viability GR00240-S-1 9.8 LMNA
7 Decreased viability GR00249-S 9.8 GJB1 HSPB1 LMNA MPZ NDRG1 SH3TC2
8 Decreased viability GR00301-A 9.8 HSPB8
9 Decreased viability GR00381-A-1 9.8 FIG4 HSPB1 LRSAM1 MPZ PRX SH3TC2
10 Decreased viability GR00381-A-3 9.8 MPZ
11 Decreased viability GR00386-A-1 9.8 LMNA LRSAM1 MPZ NEFL
12 Decreased viability GR00402-S-2 9.8 GARS1 GJB1 LRSAM1 MPZ NDRG1

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

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 AARS1 FIG4 GARS1 GDAP1 GJB1 HSPB8
2 homeostasis/metabolism MP:0005376 10.2 AARS1 GDAP1 GJB1 HSPB1 HSPB8 IGHMBP2
3 cellular MP:0005384 10.11 AARS1 GDAP1 GJB1 HSPB1 HSPB8 IGHMBP2
4 mortality/aging MP:0010768 10.07 AARS1 FIG4 GARS1 GJB1 HSPB8 IGHMBP2
5 muscle MP:0005369 9.93 AARS1 FIG4 GARS1 HSPB8 IGHMBP2 KIF1B
6 nervous system MP:0003631 9.93 AARS1 FIG4 GARS1 GDAP1 GJB1 HSPB8
7 respiratory system MP:0005388 9.17 HSPB8 IGHMBP2 KIF1B LMNA MPZ PRX

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
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
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
Ethanol Approved Phase 3 64-17-5 702
Sorbitol Approved Phase 3 50-70-4 5780
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
Baclofen Approved Phase 3 1134-47-0 2284
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
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
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
Iron Approved 7439-89-6 23925 29936
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
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
Calcium Nutraceutical 7440-70-2 271

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 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 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
23 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
24 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
25 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
26 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
27 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
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 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:

Spinal Cord, Eye, Brain, Skin, Heart, Liver, Lung
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 3662)
# Title Authors PMID Year
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 61 6 54
20178975 2010
Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. 6 54 61
16373087 2006
Connexin32 and X-linked Charcot-Marie-Tooth disease. 61 54 6
9361298 1997
Copy number variations in a population-based study of Charcot-Marie-Tooth disease. 6 61
25648254 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 61 6
25614874 2014
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 61 6
25025039 2014
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 61 6
22933740 2012
[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X]. 6 61
23011429 2012
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 61 6
21840889 2011
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 6 61
21820100 2011
Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 61 6
21531138 2011
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. 61 6
20660910 2010
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 61 6
19272779 2009
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 6 54
16714318 2006
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 61 6
15122254 2004
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 61 6
14574644 2003
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 61 6
12402337 2002
Diverse trafficking abnormalities of connexin32 mutants causing CMTX. 6 61
12460545 2002
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. 42 61
33415332 2020
Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease. 42 61
33049996 2020
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. 6
22031878 2011
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 6
18425620 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 6
18478590 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 6
18511281 2008
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 6
16924012 2006
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. 6
16194727 2005
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. 42
32937143 2020
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. 61 54
20513111 2010
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 54 61
20418531 2010
Dynamin 2 and human diseases. 54 61
20127478 2010
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
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 61 54
19888301 2010
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 54 61
20037586 2010
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 54 61
20039784 2010
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 54 61
19932620 2010
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. 54 61
20453308 2010
YY1-dependent transcriptional regulation of the human GDAP1 gene. 54 61
19720140 2009
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 54 61
19782751 2009
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. 61 54
19923170 2009
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. 61 54
20193560 2009
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]. 61 54
20193559 2009
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 54 61
20008656 2009
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 54 61
19293842 2009
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 61 54
19259128 2009
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 61 54
19427854 2009
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 61 54
19500985 2009
PMP22 expression in dermal nerve myelin from patients with CMT1A. 54 61
19447823 2009
Functional and comparative genomics analyses of pmp22 in medaka fish. 61 54
19534778 2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 61 54
19089472 2009
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 61 54
19321787 2009

Variations for Charcot-Marie-Tooth Disease

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

6 (show top 50) (show all 3206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB1 NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) SNV Pathogenic 157521 rs587781246 GRCh37: X:70444245-70444245
GRCh38: X:71224395-71224395
2 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 GRCh37: 1:12052746-12052746
GRCh38: 1:11992689-11992689
3 SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) SNV Pathogenic 2482 rs80338933 GRCh37: 5:148406435-148406435
GRCh38: 5:149026872-149026872
4 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) Duplication Pathogenic 30860 rs786200930 GRCh37: 9:130265125-130265126
GRCh38: 9:127502846-127502847
5 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 GRCh37: 9:130263288-130263288
GRCh38: 9:127501009-127501009
6 IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>T SNV Pathogenic 204303 rs797044802 GRCh37: 11:68675806-68675806
GRCh38: 11:68908338-68908338
7 MT-ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 GRCh37: MT:9185-9185
GRCh38: MT:9185-9185
8 CTDP1 NM_004715.4(CTDP1):c.863+389C>T SNV Pathogenic 5301 rs113994102 GRCh37: 18:77470825-77470825
GRCh38: 18:79710825-79710825
9 HSPB1 NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) SNV Pathogenic 533814 rs557327165 GRCh37: 7:75932145-75932145
GRCh38: 7:76302828-76302828
10 GDAP1 NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) Duplication Pathogenic 406140 rs756461496 GRCh37: 8:75276540-75276541
GRCh38: 8:74364305-74364306
11 HSPB1 NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) SNV Pathogenic 217230 rs863225022 GRCh37: 7:75933161-75933161
GRCh38: 7:76303844-76303844
12 MFN2 NM_014874.3(MFN2):c.1392+1G>A SNV Pathogenic 637063 rs1569861708 GRCh37: 1:12064671-12064671
GRCh38: 1:12004614-12004614
13 MFN2 NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) SNV Pathogenic 637064 rs1569871830 GRCh37: 1:12067274-12067274
GRCh38: 1:12007217-12007217
14 GDAP1 NM_018972.4(GDAP1):c.579+1G>A SNV Pathogenic 220379 rs864622501 GRCh37: 8:75274214-75274214
GRCh38: 8:74361979-74361979
15 GJB1 NM_000166.6(GJB1):c.576del (p.Phe193fs) Deletion Pathogenic 637162 rs1602349692 GRCh37: X:70444133-70444133
GRCh38: X:71224283-71224283
16 GJB1 NM_000166.6(GJB1):c.629_632del (p.Val210fs) Deletion Pathogenic 637163 rs1602349779 GRCh37: X:70444186-70444189
GRCh38: X:71224336-71224339
17 GJB1 NM_000166.6(GJB1):c.772del (p.Ser258fs) Deletion Pathogenic 637164 rs1602349940 GRCh37: X:70444329-70444329
GRCh38: X:71224479-71224479
18 GJB1 NM_000166.6(GJB1):c.800del (p.Pro267fs) Deletion Pathogenic 637165 rs1602350003 GRCh37: X:70444355-70444355
GRCh38: X:71224505-71224505
19 GJB1 NM_000166.6(GJB1):c.822del (p.Glu275fs) Deletion Pathogenic 637166 rs1602350029 GRCh37: X:70444379-70444379
GRCh38: X:71224529-71224529
20 GJB1 NM_000166.6(GJB1):c.844dup (p.Ala282fs) Duplication Pathogenic 637167 rs1602350062 GRCh37: X:70444399-70444400
GRCh38: X:71224549-71224550
21 GJB1 NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) SNV Pathogenic 447441 rs1555937020 GRCh37: X:70443621-70443621
GRCh38: X:71223771-71223771
22 GJB1 NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) SNV Pathogenic 543926 rs1555936989 GRCh37: X:70443565-70443565
GRCh38: X:71223715-71223715
23 GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) SNV Pathogenic 21084 rs116840815 GRCh37: X:70443600-70443600
GRCh38: X:71223750-71223750
24 GJB1 NM_000166.6(GJB1):c.381C>G (p.Ile127Met) SNV Pathogenic 637216 rs1602349264 GRCh37: X:70443938-70443938
GRCh38: X:71224088-71224088
25 GJB1 NM_000166.6(GJB1):c.785_786del (p.Ile262fs) Deletion Pathogenic 637234 rs1602349962 GRCh37: X:70444341-70444342
GRCh38: X:71224491-71224492
26 HSPB1 NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) SNV Pathogenic 220419 rs770272088 GRCh37: 7:75932279-75932279
GRCh38: 7:76302962-76302962
27 HSPB1 NM_001540.5(HSPB1):c.505del (p.Met169fs) Deletion Pathogenic 637259 rs1583966508 GRCh37: 7:75933377-75933377
GRCh38: 7:76304060-76304060
28 MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) SNV Pathogenic 2272 rs28940295 GRCh37: 1:12059087-12059087
GRCh38: 1:11999030-11999030
29 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His) SNV Pathogenic 2271 rs28940294 GRCh37: 1:12061480-12061480
GRCh38: 1:12001423-12001423
30 MPZ NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs) Microsatellite Pathogenic 637320 rs1571817911 GRCh37: 1:161276128-161276129
GRCh38: 1:161306338-161306339
31 MPZ NM_000530.8(MPZ):c.646-10_650del Deletion Pathogenic 217234 rs863225026 GRCh37: 1:161275763-161275777
GRCh38: 1:161305973-161305987
32 MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) SNV Pathogenic 549681 rs1553259707 GRCh37: 1:161276701-161276701
GRCh38: 1:161306911-161306911
33 MPZ NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) SNV Pathogenic 637349 rs1571819182 GRCh37: 1:161276650-161276650
GRCh38: 1:161306860-161306860
34 PRX NM_181882.3(PRX):c.1173del (p.Arg392fs) Deletion Pathogenic 637391 rs757771239 GRCh37: 19:40903086-40903086
GRCh38: 19:40397179-40397179
35 PRX NM_020956.2(PRX):c.124_125dup (p.Phe43fs) Duplication Pathogenic 637392 rs1599662837 GRCh37: 19:40909671-40909672
GRCh38: 19:40403764-40403765
36 SH3TC2 NM_024577.3(SH3TC2):c.524del (p.Gln175fs) Deletion Pathogenic 631961 rs1561770179 GRCh37: 5:148422262-148422262
GRCh38: 5:149042699-149042699
37 SH3TC2 NM_024577.4(SH3TC2):c.688del (p.Val230fs) Deletion Pathogenic 637409 rs775740308 GRCh37: 5:148421022-148421022
GRCh38: 5:149041459-149041459
38 SH3TC2 NM_024577.3(SH3TC2):c.957del (p.Phe320fs) Deletion Pathogenic 448371 rs1554122541 GRCh37: 5:148417902-148417902
GRCh38: 5:149038339-149038339
39 SH3TC2 NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) Deletion Pathogenic 637410 rs1174949678 GRCh37: 5:148406199-148406199
GRCh38: 5:149026636-149026636
40 SH3TC2 NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) Deletion Pathogenic 220822 rs864622664 GRCh37: 5:148389857-148389857
GRCh38: 5:149010294-149010294
41 PMP22 NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) SNV Pathogenic 637389 rs11545341 GRCh37: 17:15142851-15142851
GRCh38: 17:15239534-15239534
42 GDAP1 NM_018972.4(GDAP1):c.928del (p.Arg310fs) Deletion Pathogenic 637555 rs1586807541 GRCh37: 8:75276452-75276452
GRCh38: 8:74364217-74364217
43 FIG4 NM_014845.6(FIG4):c.2299dup (p.Glu767fs) Duplication Pathogenic 637500 rs1191997383 GRCh37: 6:110112694-110112695
GRCh38: 6:109791491-109791492
44 GARS1 NM_002047.4(GARS1):c.1809+1G>A SNV Pathogenic 637501 rs1554340340 GRCh37: 7:30668286-30668286
GRCh38: 7:30628670-30628670
45 GARS1 NM_002047.4(GARS1):c.1031+1G>A SNV Pathogenic 637502 rs1554338272 GRCh37: 7:30651862-30651862
GRCh38: 7:30612246-30612246
46 GDAP1 NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) SNV Pathogenic 637503 rs1474390668 GRCh37: 8:75262697-75262697
GRCh38: 8:74350462-74350462
47 GDAP1 NM_018972.4(GDAP1):c.116del (p.Lys39fs) Deletion Pathogenic 637504 rs778547659 GRCh37: 8:75262809-75262809
GRCh38: 8:74350574-74350574
48 GDAP1 NM_018972.4(GDAP1):c.501del (p.Glu168fs) Deletion Pathogenic 280104 rs886041386 GRCh37: 8:75274135-75274135
GRCh38: 8:74361900-74361900
49 HSPB1 NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) Insertion Pathogenic 637505 rs1583964560 GRCh37: 7:75932200-75932201
GRCh38: 7:76302883-76302884
50 MPZ NM_000530.8(MPZ):c.1A>G (p.Met1Val) SNV Pathogenic 637506 rs1427063795 GRCh37: 1:161279695-161279695
GRCh38: 1:161309905-161309905

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 RAB7A 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:

# 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 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 9.16 MFN2 GDAP1
2 myelin assembly GO:0032288 8.96 PMP22 FIG4
3 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 identical protein binding GO:0042802 9.17 TRPV4 NEFL LMNA IGHMBP2 HSPB8 HSPB1

Sources for Charcot-Marie-Tooth Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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