Charcot-Marie-Tooth Disease (CMT)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease

MalaCards integrated aliases for Charcot-Marie-Tooth Disease:

Name: Charcot-Marie-Tooth Disease 12 75 53 25 54 37 29 55 6 43 15 40 72
Hereditary Motor and Sensory Neuropathy 53 25
Hmsn 53 25
Cmt 53 25
Pma 25 17
Charcot-Marie-Tooth Hereditary Neuropathy 25
Hereditary Motor and Sensory Neuropathies 72
Cmt - Charcot-Marie-Tooth Disease 12
Charcot-Marie-Tooth Syndrome 25
Charcot Marie Tooth Disease 53
Peroneal Muscular Atrophy 25


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Disease Ontology 12 DOID:10595
KEGG 37 H00264
ICD9CM 35 356.1
MeSH 44 D002607
NCIt 50 C75467
SNOMED-CT 68 50548001
ICD10 33 G60.0
UMLS 72 C0007959 C0027888

Summaries for Charcot-Marie-Tooth Disease

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. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy. Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness. There are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes. Sometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome.

MalaCards based summary : Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease and deafness, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Neural Crest Differentiation. The drugs Folic acid and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, brain and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

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.

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.

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

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.

KEGG : 37
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of inherited peripheral neuropathies characterized by progressive distal wasting and loss of reflexes in the muscles of the legs.

Wikipedia : 75 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 D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 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 731)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 37.1 PMP22 MPZ MFN2 LRSAM1 LMNA KIF1B
2 charcot-marie-tooth disease and deafness 36.9 SH3TC2 PMP22 MPZ MFN2 KIF1B GJB1
3 charcot-marie-tooth disease, demyelinating, type 1a 36.9 PMP22 MPZ MFN2 KIF1B GJB1 GDAP1
4 charcot-marie-tooth disease, demyelinating, type 1b 36.8 PMP22 MPZ KIF1B GJB1 EGR2
5 charcot-marie-tooth disease, axonal, type 2b 36.7 RAB7A PMP22 MPZ KIF1B GJB1 EGR2
6 charcot-marie-tooth disease, demyelinating, type 1c 36.7 PMP22 MPZ KIF1B GJB1 EGR2
7 charcot-marie-tooth disease, type 4d 36.7 TRPV4 SH3TC2 MFN2 GJB1 GDAP1
8 charcot-marie-tooth disease, axonal, type 2k 36.7 TRPV4 RAB7A MFN2 KIF1B HSPB8 GDAP1
9 charcot-marie-tooth disease, axonal, type 2d 36.7 PMP22 MPZ KIF1B GJB1
10 charcot-marie-tooth disease, demyelinating, type 1d 36.7 PMP22 MPZ KIF1B GJB1 EGR2
11 charcot-marie-tooth disease, demyelinating, type 1f 36.6 PMP22 MPZ GJB1
12 charcot-marie-tooth disease, axonal, type 2f 36.6 MPZ KIF1B HSPB1 GJB1
13 charcot-marie-tooth disease, x-linked dominant, 1 36.6 PMP22 MPZ GJB1
14 charcot-marie-tooth disease, axonal, type 2a1 36.5 MFN2 KIF1B
15 charcot-marie-tooth disease, axonal, type 2l 36.5 MPZ KIF1B HSPB8 HSPB1
16 charcot-marie-tooth disease, axonal, type 2j 36.5 MPZ KIF1B
17 charcot-marie-tooth disease, axonal, type 2i 36.4 MPZ KIF1B
18 charcot-marie-tooth disease, axonal, type 2q 36.4 MPZ EGR2
19 charcot-marie-tooth disease, axonal, type 2n 36.4 TRPV4 KIF1B
20 charcot-marie-tooth disease, demyelinating, type 4f 36.3 PRX GDAP1
21 charcot-marie-tooth disease, type 4b2 36.3 PRX GDAP1
22 charcot-marie-tooth disease, type 4b1 36.2 PRX GDAP1
23 hypertrophic neuropathy of dejerine-sottas 36.2 SH3TC2 PRX PMP22 MPZ KIF1B GJB1
24 charcot-marie-tooth disease, x-linked recessive, 3 36.2 HSPB8 GJB1
25 charcot-marie-tooth disease, type 4a 36.2 PRX GDAP1
26 hereditary motor and sensory neuropathy, type iic 36.1 TRPV4 RAB7A MPZ MFN2 KIF1B GJB1
27 charcot-marie-tooth disease type 2a 36.0 MFN2 KIF1B
28 neuropathy, hereditary motor and sensory, russe type 35.6 SH3TC2 EGR2
29 roussy-levy hereditary areflexic dystasia 35.4 PMP22 MPZ
30 neuropathy, hereditary, with liability to pressure palsies 35.1 PMP22 MPZ MFN2 KIF1B GJB1 GDAP1
31 tooth disease 34.9 TRPV4 SH3TC2 PRX PMP22 MPZ MFN2
32 motor peripheral neuropathy 34.8 PMP22 MPZ MFN2 KIF1B GJB1
33 charcot-marie-tooth hereditary neuropathy 34.7 PMP22 MPZ
34 foot drop 34.5 PMP22 MPZ
35 neuropathy 34.2 PRX PMP22 MPZ MFN2 GJB1 GDAP1
36 peripheral nervous system disease 34.1 SH3TC2 PRX PMP22 MPZ MFN2 KIF1B
37 sensory peripheral neuropathy 33.9 PRX PMP22 MPZ MFN2 GJB1 GDAP1
38 axonal neuropathy 33.5 TRPV4 PMP22 MFN2 LMNA GDAP1
39 polyneuropathy 33.4 PMP22 MPZ GDAP1
40 neuromuscular disease 33.1 TRPV4 PMP22 MPZ LMNA HSPB8
41 charcot-marie-tooth neuropathy type 2a 32.7 MFN2 KIF1B
42 amyotrophic neuralgia 32.2 PRX PMP22 KIF1B GJB1
43 cauda equina syndrome 31.9 PMP22 EGR2
44 chronic inflammatory demyelinating polyradiculoneuropathy 31.5 PMP22 MPZ
45 mononeuropathy 31.0 SH3TC2 PMP22
46 charcot-marie-tooth disease, axonal, type 2b1 13.3
47 charcot-marie-tooth disease, axonal, type 2b2 13.3
48 charcot-marie-tooth disease, type 4h 13.3
49 charcot-marie-tooth disease, dominant intermediate b 13.3
50 charcot-marie-tooth disease, type 4c 13.3

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B
2 homeostasis/metabolism MP:0005376 10.03 EGR2 GDAP1 GJB1 HSPB1 HSPB8 KIF1B
3 cardiovascular system MP:0005385 10.02 EGR2 FIG4 HSPB1 HSPB8 KIF1B LMNA
4 cellular MP:0005384 10.02 EGR2 GDAP1 GJB1 HSPB1 HSPB8 LMNA
5 limbs/digits/tail MP:0005371 9.63 EGR2 FIG4 GDAP1 KIF1B LMNA PMP22
6 muscle MP:0005369 9.56 FIG4 HSPB8 KIF1B LMNA MFN2 PMP22
7 nervous system MP:0003631 9.47 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B

Drugs & Therapeutics for Charcot-Marie-Tooth Disease

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Micronutrients Phase 4
3 Trace Elements Phase 4
4 Antioxidants Phase 4
5 Vitamins Phase 4
6 Nutrients Phase 4
7 Protective Agents Phase 4
8 Vitamin B9 Phase 4
9 Folate Phase 4
10 Vitamin B Complex Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54670067 5785
15 Nootropic Agents Phase 2, Phase 3
16 carnitine Phase 2, Phase 3
17 Pharmaceutical Solutions Phase 3
18 Hematinics Phase 2, Phase 3
19 Neuroprotective Agents Phase 2, Phase 3
20 Epoetin alfa Phase 2, Phase 3 113427-24-0
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
23 Ubiquinone Phase 1, Phase 2
24 4-des-dimethylaminotetracycline Phase 1, Phase 2
25 HIV Protease Inhibitors Phase 1, Phase 2
protease inhibitors Phase 1, Phase 2
27 Matrix Metalloproteinase Inhibitors Phase 1, Phase 2
28 Ulipristal acetate Phase 2 126784-99-4
29 Contraceptive Agents Phase 2
30 Analgesics
31 Hemostatics
32 insulin
33 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot−Marie−Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 International, Multi-center, Open Label, 9-month Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
8 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
10 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
11 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
12 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
13 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
14 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
15 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Recruiting NCT03124459 Phase 2 ACE-083;Placebo
16 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Recruiting NCT01562860 Phase 2
17 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Recruiting NCT03943290 Phase 2 ACE-083
18 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
19 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
20 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
21 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
22 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
23 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
24 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
25 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
26 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
27 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
28 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
29 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
30 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
31 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
32 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
33 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
34 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
35 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
36 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
37 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
38 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
39 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
40 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
41 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Recruiting NCT03966287
42 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
43 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093
44 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
45 The Impact of Charcot-Marie-Tooth Disease in the Real World Recruiting NCT03782883
46 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Recruiting NCT01203085
47 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075
48 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Recruiting NCT03810508
49 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Recruiting NCT03574727
50 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

Search NIH Clinical Center for Charcot-Marie-Tooth Disease

Genetic Tests for Charcot-Marie-Tooth Disease

Genetic tests related to Charcot-Marie-Tooth Disease:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease 29 CNTNAP1 DCTN2 DRP2 MCM3AP MORC2 SGPL1 WARS1

Anatomical Context for Charcot-Marie-Tooth Disease

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

Brain, Testes, Spinal Cord, Skin, Skeletal Muscle, Liver, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Charcot-Marie-Tooth Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Peripheral Nervous System Peripheral Nerve Domain Myelinating Schwann Cells Affected by disease

Publications for Charcot-Marie-Tooth Disease

Articles related to Charcot-Marie-Tooth Disease:

(show top 50) (show all 3374)
# Title Authors PMID Year
A complex containing lysine-acetylated actin inhibits the formin INF2. 38 17
30962575 2019
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies. 38 17
30847674 2019
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases. 17
30896807 2019
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. 9 38
20513111 2010
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 9 38
20418531 2010
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 9 38
20178975 2010
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 9 38
19888301 2010
Dynamin 2 and human diseases. 9 38
20127478 2010
Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. 9 38
20163430 2010
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 9 38
20037586 2010
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. 9 38
20039784 2010
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. 9 38
20453308 2010
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 9 38
19932620 2010
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 9 38
19782751 2009
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. 9 38
19923170 2009
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]. 9 38
20193559 2009
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]. 9 38
20193560 2009
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 9 38
20008656 2009
YY1-dependent transcriptional regulation of the human GDAP1 gene. 9 38
19720140 2009
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. 9 38
19259128 2009
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 9 38
19293842 2009
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 9 38
19427854 2009
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 9 38
19500985 2009
PMP22 expression in dermal nerve myelin from patients with CMT1A. 9 38
19447823 2009
Functional and comparative genomics analyses of pmp22 in medaka fish. 9 38
19534778 2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 9 38
19089472 2009
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 9 38
19321787 2009
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease. 9 38
20225023 2009
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. 9 38
19718987 2009
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. 9 38
19192070 2008
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. 9 38
18655835 2008
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. 9 38
18549403 2008
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. 9 38
18492089 2008
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression. 9 38
18663734 2008
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. 9 38
18563718 2008
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 9 38
18560793 2008
[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. 9 38
18616154 2008
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. 9 38
18587268 2008
Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants. 9 38
18353664 2008
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. 9 38
18231710 2008
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. 9 38
18379723 2008
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1. 9 38
18383612 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 9 38
18386326 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1. 9 38
18386329 2007
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 9 38
17881652 2007
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 9 38
17825552 2007
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. 9 38
17940173 2007
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 9 38
17717711 2007
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 9 38
17636067 2007
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. 9 38
17620486 2007

Variations for Charcot-Marie-Tooth Disease

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

6 (show top 50) (show all 1141)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPTLC1 NM_006415.4(SPTLC1): c.992C> A (p.Ser331Tyr) single nucleotide variant Pathogenic rs267607087 9:94809543-94809543 9:92047261-92047261
2 SH3TC2 NM_024577.3(SH3TC2): c.2642A> G (p.Asn881Ser) single nucleotide variant Pathogenic rs80338930 5:148406653-148406653 5:149027090-149027090
3 GDAP1 NM_018972.4(GDAP1): c.579del (p.Lys193fs) deletion Pathogenic rs1060500979 8:75274213-75274213 8:74361978-74361978
4 GJB1 NM_000166.6(GJB1): c.65G> A (p.Arg22Gln) single nucleotide variant Pathogenic rs1060501002 X:70443622-70443622 X:71223772-71223772
5 GJB1 NM_000166.6(GJB1): c.101T> C (p.Met34Thr) single nucleotide variant Pathogenic rs1060500998 X:70443658-70443658 X:71223808-71223808
6 MPZ NM_000530.8(MPZ): c.233C> G (p.Ser78Trp) single nucleotide variant Pathogenic rs121913601 1:161277049-161277049 1:161307259-161307259
7 GARS1 NM_002047.4(GARS1): c.1415A> G (p.His472Arg) single nucleotide variant Pathogenic rs1060502838 7:30661064-30661064 7:30621448-30621448
8 FIG4 NM_014845.5(FIG4): c.1373dup (p.Leu458fs) duplication Pathogenic rs770043095 6:110083395-110083395 6:109762192-109762192
9 FGD4 NM_139241.3(FGD4): c.1877_1881AAAAG[2] (p.Lys630fs) short repeat Pathogenic rs751035912 12:32786608-32786612 12:32633674-32633678
10 SH3TC2 NM_024577.3(SH3TC2): c.3676-8G> A single nucleotide variant Pathogenic rs772823083 5:148384473-148384473 5:149004910-149004910
11 SLC12A6 NM_005135.2(SLC12A6): c.2283+1del deletion Pathogenic rs515726215 15:34532861-34532861 15:34240660-34240660
12 MFN2 NM_014874.3(MFN2): c.493C> T (p.His165Tyr) single nucleotide variant Pathogenic rs119103262 1:12057372-12057372 1:11997315-11997315
13 SH3TC2 NM_024577.3(SH3TC2): c.957del (p.Phe320fs) deletion Pathogenic rs1554122541 5:148417902-148417902 5:149038339-149038339
14 HSPB1 NM_001540.5(HSPB1): c.539C> T (p.Thr180Ile) single nucleotide variant Pathogenic rs1422978230 7:75933411-75933411 7:76304094-76304094
15 GJB1 NM_000166.6(GJB1): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs1555937020 X:70443621-70443621 X:71223771-71223771
16 GJB1 NM_000166.6(GJB1): c.266T> C (p.Leu89Pro) single nucleotide variant Pathogenic rs1555937122 X:70443823-70443823 X:71223973-71223973
17 GJB1 NM_000166.6(GJB1): c.548G> A (p.Arg183His) single nucleotide variant Pathogenic rs1555937233 X:70444105-70444105 X:71224255-71224255
18 GJB1 NM_000166.6(GJB1): c.622G> A (p.Glu208Lys) single nucleotide variant Pathogenic rs1555937270 X:70444179-70444179 X:71224329-71224329
19 GDAP1 NM_018972.4(GDAP1): c.929G> A (p.Arg310Gln) single nucleotide variant Pathogenic rs1323153568 8:75276454-75276454 8:74364219-74364219
20 MPZ NM_000530.8(MPZ): c.103G> A (p.Asp35Asn) single nucleotide variant Pathogenic rs121913596 1:161277179-161277179 1:161307389-161307389
21 MPZ NM_000530.8(MPZ): c.256C> T (p.Gln86Ter) single nucleotide variant Pathogenic rs1553259703 1:161276690-161276690 1:161306900-161306900
22 GARS1 NM_002047.4(GARS1): c.1000A> T (p.Ile334Phe) single nucleotide variant Pathogenic rs1554338260 7:30651830-30651830 7:30612214-30612214
23 GJB1 NM_000166.6(GJB1): c.304_306del (p.Glu102del) deletion Pathogenic rs1555937135 X:70443861-70443863 X:71224011-71224013
24 GJB1 NM_000166.6(GJB1): c.515C> T (p.Pro172Leu) single nucleotide variant Pathogenic rs1555937218 X:70444072-70444072 X:71224222-71224222
25 GJB1 NM_000166.6(GJB1): c.77C> G (p.Ser26Trp) single nucleotide variant Pathogenic rs587777876 X:70443634-70443634 X:71223784-71223784
26 GJB1 NM_000166.6(GJB1): c.392_393TG[1] (p.Trp132fs) short repeat Pathogenic rs1555937168 X:70443951-70443952 X:71224101-71224102
27 NTRK1 NM_002529.3(NTRK1): c.638T> C (p.Leu213Pro) single nucleotide variant Pathogenic rs747711259 1:156838360-156838360 1:156868568-156868568
28 MPZ NM_000530.8(MPZ): c.434_437del (p.Tyr145fs) deletion Pathogenic rs1553259643 1:161276509-161276512 1:161306719-161306722
29 MPZ NM_000530.8(MPZ): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs1553259683 1:161276648-161276648 1:161306858-161306858
30 HSPB1 NM_001540.5(HSPB1): c.116C> T (p.Pro39Leu) single nucleotide variant Pathogenic rs557327165 7:75932145-75932145 7:76302828-76302828
31 HSPB1 NM_001540.5(HSPB1): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs28939680 7:75933158-75933158 7:76303841-76303841
32 GDAP1 NM_018972.4(GDAP1): c.571C> T (p.Arg191Ter) single nucleotide variant Pathogenic rs1554547986 8:75274205-75274205 8:74361970-74361970
33 GJB1 NM_000166.6(GJB1): c.8G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs1555936989 X:70443565-70443565 X:71223715-71223715
34 MPZ NM_000530.8(MPZ): c.245A> G (p.Tyr82Cys) single nucleotide variant Pathogenic rs1553259707 1:161276701-161276701 1:161306911-161306911
35 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 5:16477845-16477845 5:16477736-16477736
36 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 5:16565897-16565897 5:16565788-16565788
37 MPZ NM_000530.8(MPZ): c.152C> T (p.Ser51Phe) single nucleotide variant Pathogenic rs1553259790 1:161277130-161277130 1:161307340-161307340
38 GJB1 NM_000166.6(GJB1): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs1241595912 X:70444048-70444048 X:71224198-71224198
39 MFN2 NM_014874.3(MFN2): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs28940294 1:12061480-12061480 1:12001423-12001423
40 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 1:12052746-12052746 1:11992689-11992689
41 HSPB8 NM_014365.2(HSPB8): c.423G> C (p.Lys141Asn) single nucleotide variant Pathogenic rs104894345 12:119624885-119624885 12:119187080-119187080
42 HSPB8 NM_014365.2(HSPB8): c.421A> G (p.Lys141Glu) single nucleotide variant Pathogenic rs104894351 12:119624883-119624883 12:119187078-119187078
43 GDAP1 NM_018972.4(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 8:75272419-75272419 8:74360184-74360184
44 GDAP1 NM_018972.4(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 8:75276240-75276240 8:74364005-74364005
45 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 1:10318660-10318660 1:10258602-10258602
46 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
47 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 12:110238471-110238471 12:109800666-109800666
48 CTDP1 NM_004715.4(CTDP1): c.863+389C> T single nucleotide variant Pathogenic rs113994102 18:77470825-77470825 18:79710825-79710825
49 ELP1 NM_003640.5(ELP1): c.2204+6T> C single nucleotide variant Pathogenic rs111033171 9:111662096-111662096 9:108899816-108899816
50 YARS1 NM_003680.3(YARS1): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic rs121908834 1:33263369-33263369 1:32797768-32797768

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:

# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

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

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

GO Terms for Charcot-Marie-Tooth Disease

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

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.54 RAB7A MFN2 LRSAM1
2 protein targeting to mitochondrion GO:0006626 9.32 MFN2 GDAP1
3 peripheral nervous system development GO:0007422 9.26 PMP22 EGR2
4 mitochondrial fusion GO:0008053 9.16 MFN2 GDAP1
5 myelin assembly GO:0032288 8.96 PMP22 FIG4
6 myelination GO:0042552 8.8 PMP22 MPZ EGR2

Sources for Charcot-Marie-Tooth Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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