MCID: CHR071
MIFTS: 67

Charcot-Marie-Tooth Disease

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

Aliases & Classifications for Charcot-Marie-Tooth Disease

MalaCards integrated aliases for Charcot-Marie-Tooth Disease:

Name: Charcot-Marie-Tooth Disease 37 12 72 49 24 50 36 28 51 40 41 14 69
Hereditary Motor and Sensory Neuropathy 49 24
Peroneal Muscular Atrophy 12 24
Hmsn 49 24
Cmt 49 24
Charcot-Marie-Tooth Hereditary Neuropathy 24
Hereditary Motor and Sensory Neuropathies 69
Charcot Marie Tooth Muscular Atrophy 12
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 24
Charcot Marie Tooth Disease 49
Pma 24

Classifications:



External Ids:

Disease Ontology 12 DOID:10595
ICD10 32 G60.0
ICD9CM 34 356.1
MeSH 41 D002607
NCIt 46 C75467
KEGG 36 H00264
UMLS 69 C0007959

Summaries for Charcot-Marie-Tooth Disease

NINDS : 50 Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States.  CMT,  also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves.  The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs.  A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some individuals experience pain, which can range from mild to severe.

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, axonal, type 2j, and has symptoms including abnormality of the pharynx, decreased nerve conduction velocity and ataxia. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Neural Crest Differentiation. The drugs 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 Increased gamma-H2AX phosphorylation and behavior/neurological

NIH Rare Diseases : 49 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. Last updated: 3/1/2016

MedlinePlus : 40 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

Genetics Home Reference : 24 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.

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.

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 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 243)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1b 35.6 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
2 charcot-marie-tooth disease, axonal, type 2j 35.6 KIF1B MPZ
3 charcot-marie-tooth disease, axonal, type 2b 35.6 EGR2 GJB1 KIF1B MPZ PMP22
4 charcot-marie-tooth disease, x-linked dominant, 1 35.6 GDAP1 GJB1 MPZ
5 charcot-marie-tooth disease, demyelinating, type 1a 35.5 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
6 charcot-marie-tooth disease, axonal, type 2f 35.5 GJB1 HSPB1 KIF1B MPZ
7 charcot-marie-tooth disease, type 4d 35.5 GDAP1 GJB1 MFN2 SH3TC2 TRPV4
8 charcot-marie-tooth disease and deafness 35.5 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
9 charcot-marie-tooth disease, axonal, type 2l 35.5 HSPB1 HSPB8 KIF1B MPZ
10 charcot-marie-tooth disease, demyelinating, type 1d 35.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
11 charcot-marie-tooth disease, demyelinating, type 1c 35.5 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
12 charcot-marie-tooth disease, demyelinating, type 1f 35.4 GJB1 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2a1 35.4 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2n 35.4 AARS KIF1B TRPV4
15 charcot-marie-tooth disease, demyelinating, type 4f 35.4 GDAP1 MTMR2
16 charcot-marie-tooth disease, type 4j 35.4 GDAP1 MTMR2
17 charcot-marie-tooth disease, type 4b3 35.4 GDAP1 MTMR2
18 charcot-marie-tooth disease, axonal, type 2i 35.4 KIF1B MPZ
19 charcot-marie-tooth disease, type 4c 35.4 GDAP1 SH3TC2
20 charcot-marie-tooth disease type 2a 35.3 KIF1B MFN2
21 charcot-marie-tooth disease, type 4b2 35.3 GDAP1 MTMR2
22 charcot-marie-tooth disease, type 4a 35.2 GDAP1 MTMR2
23 charcot-marie-tooth disease, x-linked recessive, 3 35.2 GJB1 HSPB8
24 charcot-marie-tooth disease type 2g 35.1 GDAP1 LRSAM1
25 charcot-marie-tooth disease, type 4b1 35.1 GDAP1 MTMR2
26 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 34.7 EGR2 GDAP1 GJB1 HSPB8 KIF1B MFN2
27 hereditary motor and sensory neuropathy, type iic 34.6 GDAP1 GJB1 KIF1B MFN2 MPZ TRPV4
28 charcot-marie-tooth disease, axonal, type 2p 34.6 DNAJB2 LRSAM1
29 neuropathy, hereditary motor and sensory, russe type 34.6 EGR2 SH3TC2
30 charcot-marie-tooth disease, axonal, type 2k 34.5 DNAJB2 DYNC1H1 GDAP1 HSPB8 KIF1B MFN2
31 charcot-marie-tooth disease, axonal, type 2b1 34.5 DNAJB2 LMNA
32 hypertrophic neuropathy of dejerine-sottas 34.5 EGR2 GDAP1 GJB1 KIF1B MPZ MTMR2
33 charcot-marie-tooth disease type 2a2 34.4 DNAJB2 MFN2
34 charcot-marie-tooth disease, axonal, type 2h 34.4 DNAJB2 GDAP1
35 charcot-marie-tooth disease, axonal, type 2e 34.3 AARS DNAJB2 EGR2 GDAP1 GJB1 IGHMBP2
36 foot drop 33.6 MPZ PMP22
37 tooth disease 33.2 EGR2 GDAP1 GJB1 HSPB1 HSPB8 KIF1B
38 congenital hypomyelination neuropathy 33.1 EGR2 MPZ MTMR2 PMP22 SH3TC2
39 hereditary neuropathies 32.8 DNAJB2 GJB1 LMNA MFN2 MPZ MTMR2
40 roussy-levy hereditary areflexic dystasia 32.6 AARS DNAJB2 DYNC1H1 GDAP1 HSPB1 HSPB8
41 neuropathy 32.5 EGR2 GDAP1 GJB1 MFN2 MPZ MT-ATP6
42 hereditary neuropathy with liability to pressure palsy 32.3 MPZ PMP22
43 neuropathy, hereditary, with liability to pressure palsies 32.2 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
44 polyneuropathy 31.9 GDAP1 MPZ MT-ATP6 PMP22
45 axonal neuropathy 31.5 GDAP1 LMNA MFN2 PMP22 TRPV4
46 cauda equina syndrome 31.4 EGR2 PMP22
47 muscular atrophy 30.9 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
48 spinal muscular atrophy 30.7 DNAJB2 DYNC1H1 IGHMBP2 TRPV4
49 charcot-marie-tooth disease, axonal, type 2b2 13.0
50 charcot-marie-tooth disease, type 4h 12.9

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

Human phenotypes related to Charcot-Marie-Tooth Disease:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 abnormality of the pharynx 31 hallmark (90%) HP:0000600
2 decreased nerve conduction velocity 31 hallmark (90%) HP:0000762
3 ataxia 31 hallmark (90%) HP:0001251
4 gait disturbance 31 hallmark (90%) HP:0001288
5 reduced tendon reflexes 31 hallmark (90%) HP:0001315
6 laryngomalacia 31 hallmark (90%) HP:0001601
7 abnormality of the voice 31 hallmark (90%) HP:0001608
8 scoliosis 31 hallmark (90%) HP:0002650
9 kyphosis 31 hallmark (90%) HP:0002808
10 emg abnormality 31 hallmark (90%) HP:0003457
11 paralysis 31 hallmark (90%) HP:0003470
12 distal amyotrophy 31 hallmark (90%) HP:0003693
13 impaired pain sensation 31 hallmark (90%) HP:0007328

UMLS symptoms related to Charcot-Marie-Tooth Disease:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 SH3TC2 EGR2 GJB1 HSPB1 LMNA MARS

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 LMNA LRSAM1 MFN2 MPZ MTMR2 PMP22
2 cellular MP:0005384 10.14 AARS EGR2 GDAP1 GJB1 HSPB1 HSPB8
3 cardiovascular system MP:0005385 10.13 AARS EGR2 HSPB1 HSPB8 IGHMBP2 KIF1B
4 growth/size/body region MP:0005378 10.11 AARS DYNC1H1 EGR2 GJB1 HSPB1 IGHMBP2
5 homeostasis/metabolism MP:0005376 10.1 GDAP1 GJB1 HSPB1 HSPB8 IGHMBP2 KIF1B
6 mortality/aging MP:0010768 9.97 KIF1B LMNA MFN2 MPZ MTMR2 PMP22
7 limbs/digits/tail MP:0005371 9.73 EGR2 GDAP1 KIF1B LMNA MTMR2 PMP22
8 muscle MP:0005369 9.65 LMNA MFN2 PMP22 SH3TC2 TRPV4 AARS
9 nervous system MP:0003631 9.5 AARS DYNC1H1 EGR2 GDAP1 GJB1 IGHMBP2

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 201)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 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 84057-95-4 175805 71273
10
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 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 68-26-8, 11103-57-4 445354
19 tannic acid Approved, Nutraceutical Phase 4
20 Antioxidants Phase 4,Phase 2,Phase 3
21 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Antiemetics Phase 4,Phase 2,Phase 3
23 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
24 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
25 Autonomic Agents Phase 4,Phase 2,Phase 3
26 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
27 glucocorticoids Phase 4,Phase 3,Phase 2
28 Hormone Antagonists Phase 4,Phase 3,Phase 2
29 Hormones Phase 4,Phase 3,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
31 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
32 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
33 Neuroprotective Agents Phase 4,Phase 2,Phase 3
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Prednisolone acetate Phase 4,Phase 2,Phase 3
36 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
37 Prednisolone phosphate Phase 4,Phase 2,Phase 3
38 Analgesics Phase 4,Phase 3,Phase 2
39 Analgesics, Non-Narcotic Phase 4,Phase 2
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
41 Antirheumatic Agents Phase 4,Phase 2
42 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
43 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
44 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
45 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
47 Sodium Channel Blockers Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
48 Anticonvulsants Phase 4,Phase 3
49 Antimanic Agents Phase 4,Phase 3
50 Calcium, Dietary Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 252)

# 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 Not yet recruiting 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 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Unknown status NCT02739217 Phase 2 PBI-4050
39 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2 Minocycline;placebo
40 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Unknown status NCT02314208 Phase 2 Xenbilox;Tahor
41 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
42 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
43 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
44 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
45 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
46 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
47 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
48 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo
49 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
50 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2 Botulinum Toxin Type A injection (BOTOX);Botulinum Toxin Type A injection (BOTOX)

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 28

Anatomical Context for Charcot-Marie-Tooth Disease

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

38
Brain, Spinal Cord, Testes, Skin, Heart, Liver, 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 1023)
# Title Authors Year
1
Peripheral neuropathies: Antisense therapy for Charcot-Marie-Tooth disease? ( 29269786 )
2018
2
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease. ( 29341362 )
2018
3
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability. ( 29243538 )
2018
4
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. ( 29381233 )
2018
5
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [synopsis]. ( 29276065 )
2018
6
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. ( 29351582 )
2018
7
Six months of strength training reduces progression of dorsiflexor muscle weakness in children with Charcot-Marie-Tooth disease [commentary]. ( 29289585 )
2018
8
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. ( 29415205 )
2018
9
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
10
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. ( 29341343 )
2018
11
Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. ( 29321227 )
2018
12
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. ( 29215088 )
2018
13
Improvement of Neuropathy Symptoms With Treatment of Obstructive Sleep Apnea in a Patient With Charcot-Marie-Tooth Disease. ( 29246265 )
2018
14
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. ( 29449460 )
2018
15
Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. ( 29276154 )
2018
16
Operative treatment algorithm for foot deformities in Charcot-Marie-Tooth disease. ( 29417158 )
2018
17
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement. ( 28847448 )
2017
18
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2. ( 28581500 )
2017
19
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease. ( 28748849 )
2017
20
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing. ( 28379183 )
2017
21
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. ( 28244113 )
2017
22
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. ( 28211240 )
2017
23
A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E. ( 28681776 )
2017
24
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
25
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. ( 28673555 )
2017
26
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study. ( 28810241 )
2017
27
Erratum: Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease. ( 27995668 )
2017
28
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease. ( 28236508 )
2017
29
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2. ( 29168276 )
2017
30
Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. ( 28527386 )
2017
31
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1. ( 28509084 )
2017
32
Traduction franAsaise de l'Acchelle Charcot-Marie-Tooth Disease Pediatric Scale. ( 28814348 )
2017
33
Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease. ( 28438772 )
2017
34
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. ( 27908631 )
2017
35
Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A). ( 28214652 )
2017
36
Long-Term Effective Thalamic Deep Brain Stimulation for Neuropathic Tremor in Two Patients with Charcot-Marie-Tooth Disease. ( 28297702 )
2017
37
New mutation in a patient with Charcot-Marie-Tooth disease. ( 28318735 )
2017
38
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. ( 28364294 )
2017
39
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant. ( 28579206 )
2017
40
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1. ( 28448691 )
2017
41
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. ( 28211244 )
2017
42
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model. ( 28469666 )
2017
43
Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey. ( 29282812 )
2017
44
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic. ( 28097225 )
2017
45
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D. ( 28776325 )
2017
46
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. ( 28164329 )
2017
47
Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients. ( 29246495 )
2017
48
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. ( 28224639 )
2017
49
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A. ( 29266326 )
2017
50
Nine-hole Peg Test and Ten-meter Walk Test for Evaluating Functional Loss in Chinese Charcot-Marie-Tooth Disease. ( 28748848 )
2017

Variations for Charcot-Marie-Tooth Disease

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

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
2 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Pathogenic/Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
3 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
4 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
5 MPZ NM_000530.7(MPZ): c.224A> T (p.Asp75Val) single nucleotide variant Pathogenic rs121913597 GRCh37 Chromosome 1, 161277058: 161277058
6 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
7 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
8 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
9 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Pathogenic rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
10 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh37 Chromosome 14, 102446843: 102446843
11 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
12 LMNA NM_170707.3(LMNA): c.1908C> T (p.Ser636=) single nucleotide variant Pathogenic rs80356814 GRCh37 Chromosome 1, 156108488: 156108488
13 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
14 HSPB1 NM_001540.4(HSPB1): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs587781250 GRCh38 Chromosome 7, 76303817: 76303817
15 SBF1 NM_002972.3(SBF1): c.1327G> A (p.Asp443Asn) single nucleotide variant Pathogenic/Likely pathogenic rs690016543 GRCh37 Chromosome 22, 50903435: 50903435
16 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
17 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Pathogenic rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
18 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
19 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh37 Chromosome 2, 220146494: 220146494
20 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh37 Chromosome 2, 220144569: 220144569
21 MARS NM_004990.3(MARS): c.2398C> A (p.Pro800Thr) single nucleotide variant Pathogenic rs781249411 GRCh37 Chromosome 12, 57909709: 57909709
22 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
23 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
24 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
25 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 GRCh37 Chromosome 12, 119624883: 119624883
26 HSPB8 NM_014365.2(HSPB8): c.423G> T (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 GRCh37 Chromosome 12, 119624885: 119624885
27 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
28 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
29 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
30 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
31 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
32 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
33 LRSAM1 NM_138361.5(LRSAM1): c.1913-1G> A single nucleotide variant Pathogenic rs756880678 GRCh37 Chromosome 9, 130263288: 130263288
34 IGHMBP2 NM_002180.2(IGHMBP2): c.449+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs797044802 GRCh38 Chromosome 11, 68908338: 68908338
35 IGHMBP2 NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr) single nucleotide variant Pathogenic rs756985703 GRCh38 Chromosome 11, 68934517: 68934517
36 IGHMBP2 NM_002180.2(IGHMBP2): c.2784+1G> T single nucleotide variant Pathogenic rs797044803 GRCh38 Chromosome 11, 68938355: 68938355
37 AARS NM_001605.2(AARS): c.2333A> C (p.Glu778Ala) single nucleotide variant Pathogenic rs797044801 GRCh38 Chromosome 16, 70254688: 70254688

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:

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

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

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

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 membrane GO:0016020 9.5 AARS DNAJB2 DYNC1H1 GDAP1 GJB1 IGHMBP2

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

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.32 EGR2 PMP22
2 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
3 negative regulation of endocytosis GO:0045806 9.16 LRSAM1 MTMR2
4 response to unfolded protein GO:0006986 9.13 DNAJB2 HSPB1 MFN2
5 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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