CMT
MCID: CHR071
MIFTS: 65

Charcot-Marie-Tooth Disease (CMT)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle 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 39 12 77 54 26 55 38 30 56 6 44 15 41 74
Hereditary Motor and Sensory Neuropathy 54 26
Hmsn 54 26
Cmt 54 26
Pma 26 17
Charcot-Marie-Tooth Hereditary Neuropathy 26
Hereditary Motor and Sensory Neuropathies 74
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 26
Charcot Marie Tooth Disease 54
Peroneal Muscular Atrophy 26

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
KEGG 38 H00264
ICD9CM 36 356.1
MeSH 45 D002607
NCIt 51 C75467
SNOMED-CT 69 50548001
ICD10 34 G60.0

Summaries for Charcot-Marie-Tooth Disease

MedlinePlus : 44 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

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, demyelinating, type 1a 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 COPI-independent Golgi-to-ER retrograde traffic. The drugs Lidocaine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, brain and spinal cord, and related phenotypes are behavior/neurological and cardiovascular system

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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

NINDS : 55 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 my 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.

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... 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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
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 380)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1a 35.8 GDAP1 KIF1B MFN2 MPZ
2 charcot-marie-tooth disease and deafness 35.8 GDAP1 KIF1B MFN2 MPZ SH3TC2
3 charcot-marie-tooth disease, axonal, type 2e 35.7 AARS DNAJB2 GDAP1 IGHMBP2 KIF1B LMNA
4 charcot-marie-tooth disease, type 4d 35.7 GDAP1 MFN2 SH3TC2 TRPV4
5 charcot-marie-tooth disease, axonal, type 2j 35.6 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2l 35.6 HSPB1 HSPB8 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2d 35.6 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2n 35.6 AARS KIF1B TRPV4
9 charcot-marie-tooth disease, axonal, type 2f 35.6 HSPB1 KIF1B MPZ
10 charcot-marie-tooth disease, axonal, type 2k 35.6 DNAJB2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
11 charcot-marie-tooth disease, axonal, type 2b 35.6 KIF1B MPZ
12 charcot-marie-tooth disease, axonal, type 2a1 35.5 KIF1B MFN2
13 charcot-marie-tooth disease, demyelinating, type 1c 35.5 KIF1B MPZ
14 charcot-marie-tooth disease, demyelinating, type 1b 35.5 KIF1B MPZ
15 charcot-marie-tooth disease, axonal, type 2i 35.4 KIF1B MPZ
16 charcot-marie-tooth disease, axonal, type 2p 35.4 DNAJB2 LRSAM1
17 charcot-marie-tooth disease, type 4b3 35.4 GDAP1 SBF1
18 charcot-marie-tooth disease, axonal, type 2b1 35.4 DNAJB2 LMNA
19 charcot-marie-tooth disease, type 4b2 35.3 GDAP1 SBF1
20 charcot-marie-tooth disease, type 4b1 35.3 GDAP1 SBF1
21 charcot-marie-tooth disease type 2a2 35.2 DNAJB2 MFN2
22 charcot-marie-tooth disease, axonal, type 2h 35.2 DNAJB2 GDAP1
23 charcot-marie-tooth disease type 2a 35.1 KIF1B MFN2
24 charcot-marie-tooth disease, demyelinating, type 4f 35.1 DRP2 GDAP1
25 hereditary motor and sensory neuropathy, type iic 35.0 GDAP1 KIF1B MFN2 MPZ TRPV4
26 charcot-marie-tooth disease, demyelinating, type 1d 35.0 KIF1B MPZ
27 hypertrophic neuropathy of dejerine-sottas 34.7 DRP2 GDAP1 KIF1B MPZ SH3TC2
28 neuropathy, hereditary, with liability to pressure palsies 33.8 DYNC1H1 GDAP1 KIF1B MFN2 MPZ
29 motor peripheral neuropathy 33.8 KIF1B MFN2 MPZ
30 tooth disease 33.6 AARS DYNC1H1 GDAP1 HSPB1 HSPB8 IGHMBP2
31 charcot-marie-tooth hereditary neuropathy 33.1 MPZ MT-ATP6
32 neuropathy 32.8 GDAP1 MFN2 MPZ MT-ATP6
33 sensory peripheral neuropathy 32.4 GDAP1 MFN2 MPZ
34 muscular atrophy 32.1 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
35 polyneuropathy 32.1 GDAP1 MPZ MT-ATP6
36 peripheral nervous system disease 31.9 GDAP1 KIF1B MFN2 MPZ SH3TC2
37 spinal muscular atrophy 31.8 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
38 axonal neuropathy 31.6 GDAP1 LMNA MFN2 TRPV4
39 neuromuscular disease 31.0 HSPB8 LMNA MPZ TRPV4
40 charcot-marie-tooth disease, type 4a 13.1
41 charcot-marie-tooth disease, type 4h 13.1
42 charcot-marie-tooth disease, type 4c 13.1
43 charcot-marie-tooth disease, type 4j 13.1
44 charcot-marie-tooth disease, x-linked dominant, 1 13.1
45 charcot-marie-tooth disease, x-linked dominant, 6 13.1
46 charcot-marie-tooth disease, axonal, type 2b2 13.0
47 charcot-marie-tooth disease, dominant intermediate b 13.0
48 charcot-marie-tooth disease, type 4k 13.0
49 charcot-marie-tooth disease, demyelinating, type 1f 13.0
50 charcot-marie-tooth disease, axonal, type 2t 13.0

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, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 AARS DYNC1H1 GDAP1 IGHMBP2 KIF1B LMNA
2 cardiovascular system MP:0005385 9.96 AARS HSPB1 HSPB8 IGHMBP2 KIF1B LMNA
3 homeostasis/metabolism MP:0005376 9.93 GDAP1 HSPB1 HSPB8 IGHMBP2 KIF1B LMNA
4 muscle MP:0005369 9.65 AARS DYNC1H1 HSPB8 IGHMBP2 KIF1B LMNA
5 nervous system MP:0003631 9.44 AARS DRP2 DYNC1H1 GDAP1 IGHMBP2 KIF1B

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

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

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

Interventional clinical trials:

(show top 50) (show all 309)
# Name Status NCT ID Phase Drugs
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Onset and Duration of Forearm Nerve Blockade Completed NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
3 Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS Completed NCT03802448 Phase 4
4 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
5 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4 Acetaminophen;Ketorolac Tromethamine;Saline
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
8 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
9 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
10 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4 Ropivacaine 0.2%;Ropivacaine 0.75%;Normal saline
11 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
12 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
13 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
14 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
15 Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration Active, not recruiting NCT03196817 Phase 4 betamethasone dipropionate, betamethasone disodium phosphate and lidocaine 2%
16 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
17 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
18 Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS Not yet recruiting NCT03792945 Phase 4 local injection
19 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
20 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
21 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
22 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
23 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
24 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
25 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
26 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
27 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
28 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
29 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
30 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
31 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
32 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
33 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
34 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
35 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
36 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
37 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
38 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
39 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
40 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
41 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
42 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3 lidocaine patch 5%
43 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
44 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
45 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
46 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
47 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
48 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
49 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
50 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2

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 30 CNTNAP1 DCTN2 DRP2 MCM3AP MORC2 SGPL1 WARS

Anatomical Context for Charcot-Marie-Tooth Disease

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

42
Brain, Spinal Cord, Testes, Skin, Liver, Heart, Skeletal Muscle
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 1669)
# Title Authors Year
1
Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study. ( 30635758 )
2019
2
Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases. ( 30643024 )
2019
3
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. ( 30649217 )
2019
4
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. ( 30649465 )
2019
5
Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). ( 30650121 )
2019
6
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. ( 30653784 )
2019
7
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons. ( 30663652 )
2019
8
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction. ( 30680856 )
2019
9
Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. ( 30706531 )
2019
10
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. ( 30785048 )
2019
11
Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2. ( 30807887 )
2019
12
POLG mutations presenting as CMT. ( 30843307 )
2019
13
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. ( 30843326 )
2019
14
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? ( 30873681 )
2019
15
Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers. ( 30873759 )
2019
16
Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene. ( 30889162 )
2019
17
Body composition and its association with physical performance, quality of life, and clinical indictors in Charcot-Marie-Tooth disease: a pilot study. ( 29096547 )
2019
18
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. ( 30177296 )
2019
19
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease. ( 30265406 )
2019
20
[Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease]. ( 30692068 )
2019
21
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
22
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [commentary]. ( 29289585 )
2018
23
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. ( 29381233 )
2018
24
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. ( 29940160 )
2018
25
Pain in Charcot-Marie-Tooth disease: an update. ( 29742248 )
2018
26
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. ( 29415205 )
2018
27
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [synopsis]. ( 29276065 )
2018
28
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease. ( 29674285 )
2018
29
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. ( 29674596 )
2018
30
Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease. ( 29896895 )
2018
31
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. ( 29661920 )
2018
32
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. ( 29215088 )
2018
33
Drosophila Charcot-Marie-Tooth Disease Models. ( 29951817 )
2018
34
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease. ( 29341362 )
2018
35
Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. ( 29729827 )
2018
36
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability. ( 29243538 )
2018
37
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases. ( 29956646 )
2018
38
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. ( 29341343 )
2018
39
Improvement of Neuropathy Symptoms With Treatment of Obstructive Sleep Apnea in a Patient With Charcot-Marie-Tooth Disease. ( 29246265 )
2018
40
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. ( 29687021 )
2018
41
Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. ( 29321227 )
2018
42
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. ( 29202483 )
2018
43
Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature. ( 29780422 )
2018
44
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study. ( 29111421 )
2018
45
A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D. ( 29724652 )
2018
46
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. ( 29653220 )
2018
47
Motor unit number index correlates with disability in Charcot-Marie-Tooth disease. ( 29729594 )
2018
48
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. ( 29906321 )
2018
49
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. ( 29655802 )
2018
50
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. ( 29449460 )
2018

Variations for Charcot-Marie-Tooth Disease

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

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB1 NM_000166.5(GJB1): c.688C> T (p.Arg230Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587781246 GRCh38 Chromosome X, 71224395: 71224395
2 GJB1 NM_000166.5(GJB1): c.688C> T (p.Arg230Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587781246 GRCh37 Chromosome X, 70444245: 70444245
3 DNM2 NM_001005361.2(DNM2): c.1241A> G (p.Lys414Arg) single nucleotide variant Likely pathogenic rs199927590 GRCh38 Chromosome 19, 10797424: 10797424
4 DNM2 NM_001005361.2(DNM2): c.1241A> G (p.Lys414Arg) single nucleotide variant Likely pathogenic rs199927590 GRCh37 Chromosome 19, 10908100: 10908100
5 SEPT9 NM_001113495.1(SEPT9): c.530G> A (p.Arg177His) single nucleotide variant Uncertain significance rs587781247 GRCh38 Chromosome 17, 77482288: 77482288
6 SEPT9 NM_001113495.1(SEPT9): c.530G> A (p.Arg177His) single nucleotide variant Uncertain significance rs587781247 GRCh37 Chromosome 17, 75478370: 75478370
7 SETX NM_015046.5(SETX): c.6792A> G (p.Ile2264Met) single nucleotide variant Uncertain significance rs148041889 GRCh38 Chromosome 9, 132278120: 132278120
8 SETX NM_015046.5(SETX): c.6792A> G (p.Ile2264Met) single nucleotide variant Uncertain significance rs148041889 GRCh37 Chromosome 9, 135153507: 135153507
9 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
10 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
11 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
12 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
13 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh38 Chromosome 16, 81356881: 81356881
14 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh37 Chromosome 16, 81390486: 81390486
15 SETX NM_015046.5(SETX): c.3075_3076insTGA (p.Arg1026_Lys1360delinsTer) insertion Uncertain significance rs587781249 GRCh38 Chromosome 9, 132328522: 132328523
16 SETX NM_015046.5(SETX): c.3075_3076insTGA (p.Arg1026_Lys1360delinsTer) insertion Uncertain significance rs587781249 GRCh37 Chromosome 9, 135203909: 135203910
17 HSPB1 NM_001540.4(HSPB1): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs587781250 GRCh38 Chromosome 7, 76303817: 76303817
18 HSPB1 NM_001540.4(HSPB1): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs587781250 GRCh37 Chromosome 7, 75933134: 75933134
19 GAN NM_022041.3(GAN): c.23C> G (p.Ser8Cys) single nucleotide variant Uncertain significance rs587781251 GRCh38 Chromosome 16, 81315136: 81315136
20 GAN NM_022041.3(GAN): c.23C> G (p.Ser8Cys) single nucleotide variant Uncertain significance rs587781251 GRCh37 Chromosome 16, 81348741: 81348741
21 KIF1B NM_015074.3(KIF1B): c.881A> G (p.Lys294Arg) single nucleotide variant Uncertain significance rs373698346 GRCh38 Chromosome 1, 10275444: 10275444
22 KIF1B NM_015074.3(KIF1B): c.881A> G (p.Lys294Arg) single nucleotide variant Uncertain significance rs373698346 GRCh37 Chromosome 1, 10335502: 10335502
23 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh38 Chromosome 5, 149007006: 149007006
24 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh37 Chromosome 5, 148386569: 148386569
25 SH3TC2 NM_024577.3(SH3TC2): c.1342G> C (p.Asp448His) single nucleotide variant Uncertain significance rs587781252 GRCh38 Chromosome 5, 149028390: 149028390
26 SH3TC2 NM_024577.3(SH3TC2): c.1342G> C (p.Asp448His) single nucleotide variant Uncertain significance rs587781252 GRCh37 Chromosome 5, 148407953: 148407953
27 DYNC1H1 NM_001376.4(DYNC1H1): c.1700G> A (p.Arg567His) single nucleotide variant Likely pathogenic rs587781253 GRCh38 Chromosome 14, 101985925: 101985925
28 DYNC1H1 NM_001376.4(DYNC1H1): c.1700G> A (p.Arg567His) single nucleotide variant Likely pathogenic rs587781253 GRCh37 Chromosome 14, 102452262: 102452262
29 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh38 Chromosome 16, 81362609: 81362609
30 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh37 Chromosome 16, 81396214: 81396214
31 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh38 Chromosome 11, 95849857: 95849857
32 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh37 Chromosome 11, 95583021: 95583021
33 AARS NM_001605.2(AARS): c.497T> G (p.Ile166Ser) single nucleotide variant Uncertain significance rs199997425 GRCh38 Chromosome 16, 70271955: 70271955
34 AARS NM_001605.2(AARS): c.497T> G (p.Ile166Ser) single nucleotide variant Uncertain significance rs199997425 GRCh37 Chromosome 16, 70305858: 70305858
35 ARHGEF10 NM_014629.3(ARHGEF10): c.2197C> T (p.His733Tyr) single nucleotide variant Uncertain significance rs147531758 GRCh38 Chromosome 8, 1923017: 1923017
36 ARHGEF10 NM_014629.3(ARHGEF10): c.2197C> T (p.His733Tyr) single nucleotide variant Uncertain significance rs147531758 GRCh37 Chromosome 8, 1871183: 1871183
37 MTMR2 NM_016156.5(MTMR2): c.*53G> A single nucleotide variant Uncertain significance rs587779387 GRCh38 Chromosome 11, 95835237: 95835237
38 MTMR2 NM_016156.5(MTMR2): c.*53G> A single nucleotide variant Uncertain significance rs587779387 GRCh37 Chromosome 11, 95568401: 95568401
39 LMNA NM_001257374.2(LMNA): c.1534C> T (p.Arg512Cys) single nucleotide variant Uncertain significance rs140455668 GRCh37 Chromosome 1, 156108450: 156108450
40 LMNA NM_001257374.2(LMNA): c.1534C> T (p.Arg512Cys) single nucleotide variant Uncertain significance rs140455668 GRCh38 Chromosome 1, 156138659: 156138659
41 SBF1 NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn) single nucleotide variant Pathogenic/Likely pathogenic rs690016543 GRCh37 Chromosome 22, 50903435: 50903435
42 SBF1 NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn) single nucleotide variant Pathogenic/Likely pathogenic rs690016543 GRCh38 Chromosome 22, 50465006: 50465006
43 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
44 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh37 Chromosome 11, 68673588: 68673588
45 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
46 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh37 Chromosome 11, 68707128: 68707129
47 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
48 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh37 Chromosome 11, 68678964: 68678964
49 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh37 Chromosome 2, 220146494: 220146494
50 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh38 Chromosome 2, 219281772: 219281772

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

7 (show all 19)
# CNVD ID Chromosom 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:

38
# 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 10.07 DCTN2 DYNC1H1

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 cytoplasm GO:0005737 9.97 AARS DCTN2 DNAJB2 DYNC1H1 GDAP1 HSPB1
2 cytosol GO:0005829 9.44 AARS DCTN2 DNAJB2 DYNC1H1 GDAP1 HSPB1
3 growth cone GO:0030426 9.13 DCTN2 IGHMBP2 TRPV4

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

# Name GO ID Score Top Affiliating Genes
1 chaperone-mediated protein folding GO:0061077 9.16 DNAJB2 HSPB1
2 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
3 response to unfolded protein GO:0006986 8.8 DNAJB2 HSPB1 MFN2

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.35 AARS DYNC1H1 IGHMBP2 MARS TRPV4
2 motor activity GO:0003774 9.33 DCTN2 DYNC1H1 KIF1B
3 tRNA binding GO:0000049 8.8 AARS IGHMBP2 MARS

Sources for Charcot-Marie-Tooth Disease

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