CMT
MCID: CHR071
MIFTS: 62

Charcot-Marie-Tooth Disease (CMT)

Categories: 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 38 12 76 53 25 54 37 29 55 6 43 15 40 73
Hereditary Motor and Sensory Neuropathy 53 25
Peroneal Muscular Atrophy 12 25
Hmsn 53 25
Cmt 53 25
Charcot-Marie-Tooth Hereditary Neuropathy 25
Hereditary Motor and Sensory Neuropathies 73
Charcot Marie Tooth Muscular Atrophy 12
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 25
Charcot Marie Tooth Disease 53
Charcotmarietooth Disease 76
Pma 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
ICD10 33 G60.0
ICD9CM 35 356.1
MeSH 44 D002607
NCIt 50 C75467
SNOMED-CT 68 50548001
KEGG 37 H00264

Summaries for Charcot-Marie-Tooth Disease

MedlinePlus : 43 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, 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 COPI-independent Golgi-to-ER retrograde traffic. The drugs Prednisolone and Prednisolone phosphate 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 : 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.

NIH Rare Diseases : 53 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 : 54 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 : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... 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 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 2dd 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 340)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 35.4 AARS DNAJB2 GDAP1 IGHMBP2 KIF1B LMNA
2 charcot-marie-tooth disease and deafness 35.4 GDAP1 KIF1B MFN2 MPZ SH3TC2
3 charcot-marie-tooth disease, demyelinating, type 1a 35.3 GDAP1 KIF1B MFN2 MPZ
4 charcot-marie-tooth disease, type 4d 35.3 GDAP1 MFN2 SH3TC2 TRPV4
5 charcot-marie-tooth disease, axonal, type 2j 35.2 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2d 35.2 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2l 35.2 HSPB1 HSPB8 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2k 35.2 DNAJB2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
9 charcot-marie-tooth disease, axonal, type 2b 35.2 KIF1B MPZ
10 charcot-marie-tooth disease, axonal, type 2n 35.2 AARS KIF1B TRPV4
11 charcot-marie-tooth disease, axonal, type 2f 35.2 HSPB1 KIF1B MPZ
12 charcot-marie-tooth disease, demyelinating, type 1b 35.2 KIF1B MPZ
13 charcot-marie-tooth disease, demyelinating, type 1c 35.1 KIF1B MPZ
14 charcot-marie-tooth disease, axonal, type 2p 35.1 DNAJB2 LRSAM1
15 charcot-marie-tooth disease, axonal, type 2a1 35.1 KIF1B MFN2
16 charcot-marie-tooth disease, type 4b3 35.1 GDAP1 SBF1
17 charcot-marie-tooth disease, type 4b2 35.1 GDAP1 SBF1
18 charcot-marie-tooth disease, axonal, type 2b1 35.1 DNAJB2 LMNA
19 charcot-marie-tooth disease, axonal, type 2i 35.1 KIF1B MPZ
20 charcot-marie-tooth disease, type 4b1 35.0 GDAP1 SBF1
21 charcot-marie-tooth disease, demyelinating, type 4f 34.9 DRP2 GDAP1
22 charcot-marie-tooth disease type 2a2 34.9 DNAJB2 MFN2
23 charcot-marie-tooth disease, axonal, type 2h 34.9 DNAJB2 GDAP1
24 charcot-marie-tooth disease, demyelinating, type 1d 34.9 KIF1B MPZ
25 charcot-marie-tooth disease type 2a 34.7 KIF1B MFN2
26 hereditary motor and sensory neuropathy, type iic 34.6 GDAP1 KIF1B MFN2 MPZ TRPV4
27 hypertrophic neuropathy of dejerine-sottas 34.4 DRP2 GDAP1 KIF1B MPZ SH3TC2
28 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 34.4 DRP2 GDAP1 HSPB8 KIF1B MFN2 MPZ
29 motor peripheral neuropathy 33.4 KIF1B MFN2 MPZ
30 neuropathy, hereditary, with liability to pressure palsies 33.4 DYNC1H1 GDAP1 KIF1B MFN2 MPZ
31 tooth disease 33.2 AARS DYNC1H1 GDAP1 HSPB1 HSPB8 IGHMBP2
32 charcot-marie-tooth hereditary neuropathy 32.7 MPZ MT-ATP6
33 neuropathy 32.4 GDAP1 MFN2 MPZ MT-ATP6
34 sensory peripheral neuropathy 32.0 GDAP1 MFN2 MPZ
35 polyneuropathy 31.7 GDAP1 MPZ MT-ATP6
36 muscular atrophy 31.6 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
37 peripheral nervous system disease 31.6 GDAP1 KIF1B MFN2 MPZ SH3TC2
38 spinal muscular atrophy 31.5 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
39 axonal neuropathy 31.3 GDAP1 LMNA MFN2 TRPV4
40 neuromuscular disease 30.6 HSPB8 LMNA MPZ TRPV4
41 charcot-marie-tooth disease, type 4h 13.1
42 charcot-marie-tooth disease, type 4a 13.1
43 charcot-marie-tooth disease, type 4c 13.1
44 charcot-marie-tooth disease, type 4j 13.1
45 charcot-marie-tooth disease, x-linked dominant, 1 13.1
46 charcot-marie-tooth disease, axonal, type 2b2 13.0
47 charcot-marie-tooth disease, x-linked dominant, 6 13.0
48 charcot-marie-tooth disease, dominant intermediate b 13.0
49 charcot-marie-tooth disease, type 4k 13.0
50 charcot-marie-tooth disease, demyelinating, type 1f 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:

46
# 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 214)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-24-8 5755
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 302-25-0
3
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
4
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2921-57-5
5
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 83-43-2 6741
6
Bupivacaine Approved, Investigational Phase 4,Phase 1,Not Applicable,Early Phase 1 2180-92-9, 38396-39-3 2474
7
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
8
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
9
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
10
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
11
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
12
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
13
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
14
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
15
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
16
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
17 tannic acid Approved Phase 4
18
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
19
Vancomycin Approved Phase 4 1404-90-6 14969 441141
20
Cefazolin Approved Phase 4 25953-19-9 656510 33255
21
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
24
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2920-86-7
25 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
28 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
29 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
30 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
31 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
34 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
37 glucocorticoids Phase 4,Phase 2,Phase 3,Not Applicable
38 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
39 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
40 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
43 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
48 Anticonvulsants Phase 4,Phase 3,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 299)
# 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 Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS Completed NCT03802448 Phase 4
3 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
4 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
5 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
6 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
7 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
8 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
9 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
10 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
11 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
12 Onset and Duration of Forearm Nerve Blockade Recruiting NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
13 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
14 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%
15 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
16 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
17 Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS Not yet recruiting NCT03792945 Phase 4 local injection
18 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Terminated NCT02029235 Phase 4 Acetaminophen/Ibuprofen;Acetaminophen/Hydrocodone
19 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
20 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
21 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
22 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
23 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
24 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
25 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
26 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
27 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
28 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
29 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
30 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
31 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
32 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
33 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
34 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
35 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
36 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
37 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
38 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
39 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
40 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
41 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%
42 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
43 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
44 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
45 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
46 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
47 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
48 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
49 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
50 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo

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 WARS

Anatomical Context for Charcot-Marie-Tooth Disease

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

41
Brain, Spinal Cord, Testes, Lung, Liver, B Cells, Myeloid
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 1410)
# Title Authors Year
1
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
2
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [commentary]. ( 29289585 )
2018
3
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. ( 29381233 )
2018
4
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. ( 29940160 )
2018
5
Pain in Charcot-Marie-Tooth disease: an update. ( 29742248 )
2018
6
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. ( 29415205 )
2018
7
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [synopsis]. ( 29276065 )
2018
8
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease. ( 29674285 )
2018
9
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. ( 29674596 )
2018
10
Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease. ( 29896895 )
2018
11
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. ( 29661920 )
2018
12
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. ( 29215088 )
2018
13
Drosophila Charcot-Marie-Tooth Disease Models. ( 29951817 )
2018
14
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease. ( 29341362 )
2018
15
Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. ( 29729827 )
2018
16
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability. ( 29243538 )
2018
17
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases. ( 29956646 )
2018
18
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. ( 29341343 )
2018
19
Improvement of Neuropathy Symptoms With Treatment of Obstructive Sleep Apnea in a Patient With Charcot-Marie-Tooth Disease. ( 29246265 )
2018
20
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. ( 29687021 )
2018
21
Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. ( 29321227 )
2018
22
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. ( 29202483 )
2018
23
Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature. ( 29780422 )
2018
24
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
25
A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D. ( 29724652 )
2018
26
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. ( 29653220 )
2018
27
Motor unit number index correlates with disability in Charcot-Marie-Tooth disease. ( 29729594 )
2018
28
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. ( 29906321 )
2018
29
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. ( 29655802 )
2018
30
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. ( 29449460 )
2018
31
Operative treatment algorithm for foot deformities in Charcot-Marie-Tooth disease. ( 29417158 )
2018
32
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study. ( 29136549 )
2018
33
Peripheral neuropathies: Antisense therapy for Charcot-Marie-Tooth disease? ( 29269786 )
2018
34
Testing overwork weakness in Charcot-Marie-tooth disease: Is it true or false? ( 29693294 )
2018
35
Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. ( 29276154 )
2018
36
Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1. ( 29870477 )
2018
37
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. ( 30145633 )
2018
38
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. ( 30177296 )
2018
39
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. ( 30196252 )
2018
40
Developing Charcot-Marie-Tooth Disease Recognition System Using Bacterial Foraging Optimization Algorithm Based Spiking Neural Network. ( 30203246 )
2018
41
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs. ( 30216910 )
2018
42
Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan. ( 30257968 )
2018
43
MRI of the anterior compartment of the lower leg is a biomarker for weakness, disability and impaired gait in childhood Charcot-Marie-Tooth disease. ( 30265406 )
2018
44
Membranous Nephropathy in a Patient with Charcot-Marie-Tooth Disease: Association of Myelin Mutations. ( 30271005 )
2018
45
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study. ( 30305981 )
2018
46
Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score. ( 30334469 )
2018
47
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease. ( 30394614 )
2018
48
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. ( 30409445 )
2018
49
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination. ( 30419760 )
2018
50
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. ( 30476010 )
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 MED25 NM_030973.3(MED25): c.1004C> T (p.Ala335Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145770066 GRCh37 Chromosome 19, 50334047: 50334047
2 MED25 NM_030973.3(MED25): c.1004C> T (p.Ala335Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145770066 GRCh38 Chromosome 19, 49830790: 49830790
3 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
4 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh38 Chromosome 1, 11992689: 11992689
5 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
6 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh38 Chromosome 5, 149026872: 149026872
7 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
8 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh38 Chromosome 12, 119187080: 119187080
9 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh37 Chromosome 12, 119624883: 119624883
10 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh38 Chromosome 12, 119187078: 119187078
11 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
12 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh38 Chromosome 12, 119187080: 119187080
13 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
14 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
15 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
16 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh38 Chromosome 1, 10258602: 10258602
17 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
18 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
19 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
20 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
21 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
22 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
23 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
24 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
25 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh37 Chromosome 2, 74594023: 74594023
26 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh38 Chromosome 2, 74366896: 74366896
27 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
28 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh38 Chromosome 16, 70268356: 70268356
29 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
30 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh38 Chromosome 11, 68935404: 68935404
31 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
32 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh38 Chromosome MT, 9185: 9185
33 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
34 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh38 Chromosome 15, 89323426: 89323426
35 POLG NM_002693.2(POLG): c.1491G> C (p.Gln497His) single nucleotide variant Uncertain significance rs121918052 GRCh37 Chromosome 15, 89870237: 89870237
36 POLG NM_002693.2(POLG): c.1491G> C (p.Gln497His) single nucleotide variant Uncertain significance rs121918052 GRCh38 Chromosome 15, 89327006: 89327006
37 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
38 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
39 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
40 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh38 Chromosome 1, 161307268: 161307268
41 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
42 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
43 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
44 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
45 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
46 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh38 Chromosome 1, 156135268: 156135268
47 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Uncertain significance rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
48 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Uncertain significance rs28928902 GRCh38 Chromosome 1, 156136951: 156136951
49 LMNA NM_170707.3(LMNA): c.1930C> T (p.Arg644Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142000963 GRCh37 Chromosome 1, 156108510: 156108510
50 LMNA NM_170707.3(LMNA): c.1930C> T (p.Arg644Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142000963 GRCh38 Chromosome 1, 156138719: 156138719

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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