MCID: CHR071
MIFTS: 65

Charcot-Marie-Tooth Disease

Categories: Rare diseases, Neuronal diseases, Muscle diseases, Genetic diseases, Metabolic 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 44 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
Pma 25

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
ICD10 33 G60.0
ICD9CM 35 356.1
MeSH 44 D002607
NCIt 50 C75467
KEGG 37 H00264
UMLS 73 C0007959

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 and deafness and charcot-marie-tooth disease, demyelinating, type 1a, and has symptoms including back pain, headache and 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 Methylprednisolone 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 is a group of progressive disorders that affect 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 can result in 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 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 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 246)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 36.5 GDAP1 KIF1B MFN2 MPZ SH3TC2
2 charcot-marie-tooth disease, demyelinating, type 1a 36.5 GDAP1 KIF1B MFN2 MPZ
3 charcot-marie-tooth disease, type 4d 36.4 GDAP1 MFN2 SH3TC2 TRPV4
4 charcot-marie-tooth disease, axonal, type 2l 36.3 HSPB1 HSPB8 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2f 36.3 HSPB1 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2j 36.3 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2n 36.3 AARS KIF1B TRPV4
8 charcot-marie-tooth disease, axonal, type 2a1 36.2 KIF1B MFN2
9 charcot-marie-tooth disease, demyelinating, type 1c 36.2 KIF1B MPZ
10 charcot-marie-tooth disease, axonal, type 2k 36.2 DNAJB2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
11 charcot-marie-tooth disease, axonal, type 2i 36.1 KIF1B MPZ
12 charcot-marie-tooth disease, axonal, type 2p 35.9 DNAJB2 LRSAM1
13 charcot-marie-tooth disease, x-linked dominant, 1 35.8 GDAP1 MPZ
14 charcot-marie-tooth disease type 2a 35.8 KIF1B MFN2
15 charcot-marie-tooth disease, demyelinating, type 1b 35.8 KIF1B MPZ
16 hereditary motor and sensory neuropathy, type iic 35.8 GDAP1 KIF1B MFN2 MPZ TRPV4
17 charcot-marie-tooth disease type 2a2 35.8 DNAJB2 MFN2
18 charcot-marie-tooth disease, axonal, type 2b1 35.8 DNAJB2 LMNA
19 charcot-marie-tooth disease, axonal, type 2h 35.7 DNAJB2 GDAP1
20 charcot-marie-tooth disease, axonal, type 2b 35.6 KIF1B MPZ
21 charcot-marie-tooth disease, axonal, type 2e 35.6 AARS CNTNAP1 DNAJB2 GDAP1 IGHMBP2 KIF1B
22 charcot-marie-tooth disease, demyelinating, type 4f 35.4 DRP2 GDAP1
23 charcot-marie-tooth disease, demyelinating, type 1d 35.2 KIF1B MPZ
24 hypertrophic neuropathy of dejerine-sottas 35.1 DRP2 GDAP1 KIF1B MPZ SH3TC2
25 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 35.0 DRP2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
26 hereditary neuropathies 34.4 DNAJB2 HSPB1 LMNA MFN2 MPZ
27 tooth disease 34.2 AARS DYNC1H1 GDAP1 HSPB1 HSPB8 IGHMBP2
28 neuropathy 33.3 GDAP1 MFN2 MPZ MT-ATP6
29 neuropathy, hereditary, with liability to pressure palsies 33.1 GDAP1 KIF1B MFN2 MPZ
30 sensory peripheral neuropathy 33.1 GDAP1 MFN2 MPZ
31 peripheral nervous system disease 33.0 GDAP1 MFN2 MPZ SH3TC2
32 polyneuropathy 32.6 GDAP1 MPZ MT-ATP6
33 muscular atrophy 32.5 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
34 axonal neuropathy 32.4 GDAP1 LMNA MFN2 TRPV4
35 spinal muscular atrophy 32.4 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
36 charcot-marie-tooth disease, type 4h 13.0
37 charcot-marie-tooth disease, type 4b1 13.0
38 charcot-marie-tooth disease, type 4b2 13.0
39 charcot-marie-tooth disease, type 4a 12.9
40 charcot-marie-tooth disease, axonal, type 2d 12.9
41 charcot-marie-tooth disease, type 4c 12.9
42 charcot-marie-tooth disease, type 4j 12.9
43 charcot-marie-tooth disease, type 4b3 12.9
44 charcot-marie-tooth disease, x-linked dominant, 6 12.9
45 charcot-marie-tooth disease, axonal, type 2b2 12.9
46 charcot-marie-tooth disease, dominant intermediate b 12.8
47 charcot-marie-tooth disease, type 4k 12.8
48 charcot-marie-tooth disease, demyelinating, type 1f 12.8
49 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 12.8
50 charcot-marie-tooth disease, dominant intermediate e 12.8

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:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, 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 10.03 AARS CNTNAP1 DYNC1H1 GDAP1 IGHMBP2 KIF1B
2 cardiovascular system MP:0005385 9.81 KIF1B LMNA MFN2 SH3TC2 TRPV4 AARS
3 muscle MP:0005369 9.65 AARS CNTNAP1 DYNC1H1 HSPB8 IGHMBP2 KIF1B
4 nervous system MP:0003631 9.44 CNTNAP1 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 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-24-8 5755
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
6
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
7
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
8
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
9
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
10
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
13
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
14
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
15
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
16
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
18
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
19 tannic acid Approved, Nutraceutical Phase 4
20 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Antiemetics Phase 4,Phase 2,Phase 3,Not Applicable
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
24 Autonomic Agents Phase 4,Phase 2,Phase 3,Not Applicable
25 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Not Applicable
26 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
27 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
28 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
30 Methylprednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
31 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
32 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Prednisolone acetate Phase 4,Phase 2,Phase 3,Not Applicable
35 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3,Not Applicable
36 Prednisolone phosphate Phase 4,Phase 2,Phase 3,Not Applicable
37 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
38 Analgesics, Non-Narcotic Phase 4,Phase 2,Not Applicable
39 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Anticonvulsants Phase 4,Phase 3,Not Applicable
46 Antimanic Agents Phase 4,Phase 3,Not Applicable
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
49 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 Respiratory System Agents Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 266)
# 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 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
3 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
4 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
5 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
6 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
7 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
8 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
9 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
10 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
11 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
12 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%
13 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4 Depo-Medrone
14 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4 Acetaminophen/Hydrocodone;Acetaminophen/Ibuprofen
15 Preoperative Antibiotics for Carpal Tunnel Release Surgery Not yet recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
16 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
17 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
18 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
19 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
20 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
21 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
22 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
23 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
24 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3 Gabapentine
25 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
26 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
27 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3 Gabapentin
28 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
29 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
30 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
31 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
32 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
33 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
34 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
35 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
36 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
37 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%
38 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
39 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
40 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
41 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
42 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
43 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
44 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
45 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
46 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
47 A Pilot Study to Evaluate the Effectiveness of Ultrasound Guided Looped Thread Carpal Tunnel Release Completed NCT03476486 Phase 2
48 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2 Botulinum Toxin Type A injection (BOTOX);Botulinum Toxin Type A injection (BOTOX)
49 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
50 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Cochrane evidence based reviews: 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, Skin, Liver, Heart, T Cells
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 1071)
# 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
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. ( 29351582 )
2018
38
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. ( 28211244 )
2017
39
Analysis of neural crest cells from Charcot-Marie-Tooth disease patients demonstrates disease-relevant molecular signature. ( 28704293 )
2017
40
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. ( 28771897 )
2017
41
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease. ( 28132977 )
2017
42
Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. ( 28438772 )
2017
43
Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. ( 28914656 )
2017
44
Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study. ( 29299376 )
2017
45
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. ( 28754666 )
2017
46
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. ( 28660751 )
2017
47
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. ( 28335037 )
2017
48
A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E. ( 28681776 )
2017
49
Effects of Self-Selected Exercise on Strength in Charcot-Marie-Tooth Disease Subtypes. ( 28669366 )
2017
50
Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy. ( 28855494 )
2017

Variations for Charcot-Marie-Tooth Disease

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

6
(show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
2 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh38 Chromosome 1, 11992689: 11992689
3 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
4 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh38 Chromosome 5, 149026872: 149026872
5 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
6 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh38 Chromosome 12, 119187080: 119187080
7 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh37 Chromosome 12, 119624883: 119624883
8 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh38 Chromosome 12, 119187078: 119187078
9 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
10 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh38 Chromosome 12, 119187080: 119187080
11 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
12 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
13 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
14 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh38 Chromosome 1, 10258602: 10258602
15 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
16 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
17 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
18 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
19 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
20 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
21 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
22 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
23 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
24 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh38 Chromosome 16, 70268356: 70268356
25 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
26 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh38 Chromosome 11, 68935404: 68935404
27 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
28 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh38 Chromosome MT, 9185: 9185
29 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
30 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
31 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
32 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh38 Chromosome 1, 161307268: 161307268
33 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
34 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
35 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
36 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
37 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
38 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh38 Chromosome 1, 156135268: 156135268
39 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh37 Chromosome 14, 102446843: 102446843
40 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh38 Chromosome 14, 101980506: 101980506
41 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
42 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh37 Chromosome 9, 130265127: 130265128
43 LMNA NM_170707.3(LMNA): c.1908C> T (p.Ser636=) single nucleotide variant Pathogenic rs80356814 GRCh37 Chromosome 1, 156108488: 156108488
44 LMNA NM_170707.3(LMNA): c.1908C> T (p.Ser636=) single nucleotide variant Pathogenic rs80356814 GRCh38 Chromosome 1, 156138697: 156138697
45 ARHGEF10 NM_014629.3(ARHGEF10): c.1013G> C (p.Arg338Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs587777712 GRCh37 Chromosome 8, 1830853: 1830853
46 ARHGEF10 NM_014629.3(ARHGEF10): c.1013G> C (p.Arg338Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs587777712 GRCh38 Chromosome 8, 1882687: 1882687
47 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh37 Chromosome 12, 57906632: 57906632
48 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh38 Chromosome 12, 57512849: 57512849
49 GJB1 NM_000166.5(GJB1): c.688C> T (p.Arg230Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587781246 GRCh38 Chromosome X, 71224395: 71224395
50 GJB1 NM_000166.5(GJB1): c.688C> T (p.Arg230Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587781246 GRCh37 Chromosome X, 70444245: 70444245

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 cytosol GO:0005829 9.73 AARS DCTN2 DNAJB2 DYNC1H1 GDAP1 HSPB1
2 membrane GO:0016020 9.5 AARS CNTNAP1 DCTN2 DNAJB2 DRP2 DYNC1H1
3 growth cone GO:0030426 9.33 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 mitochondrial fusion GO:0008053 9.16 GDAP1 MFN2
2 myelination in peripheral nervous system GO:0022011 8.96 CNTNAP1 SH3TC2
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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