CMT1B
MCID: CHR625
MIFTS: 57

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b (CMT1B)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 20 29 6
Charcot-Marie-Tooth Disease Type 1b 12 73 20 58 15
Peroneal Muscular Atrophy 57 12 20 72
Cmt1b 57 12 58 72
Hereditary Motor and Sensory Neuropathy Ib 57 12 72
Hmsn Ib 57 12 72
Hmsn1b 57 12 72
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy 12 72
Charcot-Marie-Tooth Neuropathy Type 1b 12 72
Charcot-Marie-Tooth Disease, Type 1b 57 13
Charcot-Marie-Tooth Disease, Type Ib 39 70
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1b 57
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b 12
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked to Duffy 57
Hereditary Motor and Sensory Neuropathy Ib; Hmsn Ib 57
Hereditary Motor and Sensory Neuropathy I; Hmsn I 57
Charcot-Marie-Tooth Disease Demyelinating Type 1b 72
Hereditary Motor and Sensory Neuropathy Type I 70
Hereditary Motor and Sensory Neuropathy 1b 20
Hereditary Motor and Sensory Neuropathy I 57
Charcot-Marie-Tooth Neuropathy, Type 1b 57
Charcot Marie Tooth Disease Type 1b 20
Charcot-Marie-Tooth Disease 1b 72
Charcot-Marie-Tooth Disease 70
Hmsn Type I 54
Hmsn 1b 20
Hmsn I 57
Cmt 1b 20
Hmsn1 57

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 1b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
insidious onset
variable severity
slowly progressive
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), congenital hypomyelination (chn, ), and some forms of axonal cmt2 (see )

Inheritance:
autosomal dominant


HPO:

31
charcot-marie-tooth disease, demyelinating, type 1b:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity juvenile onset slow progression insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110152
OMIM® 57 118200
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C0270912
Orphanet 58 ORPHA101082
MedGen 41 C0270912
UMLS 70 C0007959 C0270912 C0751036

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 1B: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1b, also known as charcot-marie-tooth disease type 1b, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1, and has symptoms including seizures, tremor and back pain. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1b is MPZ (Myelin Protein Zero), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and brain, and related phenotypes are muscle weakness and scoliosis

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

OMIM® : 57 Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. (118200) (Updated 20-May-2021)

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 31.7 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2a1 31.6 MPZ MFN2 GDAP1
3 charcot-marie-tooth disease, axonal, type 2b1 31.6 MFN2 GDAP1
4 nerve compression syndrome 30.7 SH3TC2 PMP22 MPZ
5 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 30.2 MFN2 LITAF
6 charcot-marie-tooth disease, demyelinating, type 1d 30.2 PRX PMP22 MTMR2 MPZ LITAF GJB1
7 slowed nerve conduction velocity, autosomal dominant 30.1 NEFL MPZ GJB1
8 polyradiculoneuropathy 30.0 PMP22 MPZ
9 neuritis 29.8 PMP22 NEFL MPZ GJB1
10 charcot-marie-tooth disease, dominant intermediate a 29.7 YARS1 PRX MPZ GJB1 GDAP1
11 axonal neuropathy 29.7 PMP22 NEFL MFN2 GDAP1 GARS1
12 hereditary neuropathies 29.5 PRX PMP22 MTMR2 MPZ MFN2 GJB1
13 spinal muscular atrophy 29.3 SH3TC2 PMP22 NEFL LITAF GARS1
14 charcot-marie-tooth disease, dominant intermediate b 29.1 YARS1 SH3TC2 SBF2 MTMR2 MPZ LITAF
15 polyneuropathy 29.0 SH3TC2 PRX PMP22 MPZ MFN2 LITAF
16 charcot-marie-tooth disease, demyelinating, type 1a 28.9 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
17 sensory peripheral neuropathy 28.7 PRX PMP22 MTMR2 MPZ MFN2 LITAF
18 charcot-marie-tooth disease, x-linked dominant, 1 28.5 SH3TC2 PRX PMP22 NEFL MTMR2 MPZ
19 charcot-marie-tooth disease, type 4c 28.1 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
20 charcot-marie-tooth disease, demyelinating, type 1c 27.8 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
21 charcot-marie-tooth disease 27.6 YARS1 SH3TC2 SBF2 PRX PMP22 NEFL
22 charcot-marie-tooth disease and deafness 27.5 YARS1 SH3TC2 SBF2 PRX PMP22 NEFL
23 neuropathy 27.2 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
24 tooth disease 26.6 YARS1 SH3TC2 SBF2 PRX PMP22 NEFL
25 hypertrophic neuropathy of dejerine-sottas 26.5 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
26 peripheral nervous system disease 26.3 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
27 neuromuscular disease 25.9 YARS1 SH3TC2 SBF2 PRX PMP22 NEFL
28 neuropathy, congenital hypomyelinating, 1, autosomal recessive 25.9 YARS1 SH3TC2 SBF2 PRX PMP22 NEFL
29 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 11.3
30 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 11.3
31 muscular atrophy 11.0
32 hereditary motor and sensory neuropathy v 10.9
33 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
34 charcot-marie-tooth disease, demyelinating, type 1g 10.9
35 ataxia and polyneuropathy, adult-onset 10.5
36 tremor 10.4
37 foot drop 10.3 PMP22 MPZ
38 asymmetric motor neuropathy 10.3 PMP22 MFN2
39 autoimmune peripheral neuropathy 10.3 MPZ GJB1
40 sciatic neuropathy 10.3 SH3TC2 PMP22
41 amyotrophic neuralgia 10.3 PMP22 MPZ
42 mononeuritis of lower limb 10.3 SH3TC2 PMP22
43 back pain 10.3
44 paresthesia 10.3
45 hereditary spastic paraplegia 10.3
46 lesion of sciatic nerve 10.3 SH3TC2 PMP22
47 charcot-marie-tooth disease, recessive intermediate a 10.2 MFN2 GDAP1
48 brachial plexus neuropathy 10.2 PMP22 MPZ GJB1
49 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GJB1 GDAP1
50 pupil disease 10.2 MPZ GDAP1 EGR2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
4 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
5 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
6 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
7 abnormal pupil morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000615
8 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
9 skeletal muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003712
10 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
11 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
12 peripheral dysmyelination 58 31 frequent (33%) Frequent (79-30%) HP:0003469
13 kyphoscoliosis 31 frequent (33%) HP:0002751
14 peripheral demyelination 31 frequent (33%) HP:0011096
15 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
16 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
17 split hand 31 HP:0001171
18 pes cavus 31 HP:0001761
19 peripheral neuropathy 31 HP:0009830
20 hyporeflexia 31 HP:0001265
21 decreased motor nerve conduction velocity 31 HP:0003431
22 steppage gait 31 HP:0003376
23 hammertoe 31 HP:0001765
24 limb muscle weakness 31 HP:0003690
25 distal muscle weakness 31 HP:0002460
26 distal sensory impairment 31 HP:0002936
27 distal amyotrophy 31 HP:0003693
28 foot dorsiflexor weakness 31 HP:0009027
29 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
30 onion bulb formation 31 HP:0003383
31 tonic pupil 31 HP:0012074
32 cold-induced muscle cramps 31 HP:0003449
33 hypertrophic nerve changes 31 HP:0003382
34 ulnar claw 31 HP:0001178
35 myelin outfoldings 31 HP:0004336

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
cold-induced muscle cramps
hypertrophic nerve changes
more
Head And Neck Eyes:
tonically dilated pupils (in some patients)
adie pupil

Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may occur

Clinical features from OMIM®:

118200 (Updated 20-May-2021)

UMLS symptoms related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:


seizures; tremor; back pain; headache; syncope; pain; chronic pain; sciatica; tonic pupil; vertigo/dizziness; sleeplessness

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1
2 growth/size/body region MP:0005378 9.7 EGR2 FGD4 FIG4 GARS1 GJB1 MFN2
3 nervous system MP:0003631 9.5 EGR2 FGD4 FIG4 GARS1 GDAP1 GJB1

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Trace Elements Phase 4
3 Nutrients Phase 4
4 Micronutrients Phase 4
5 Vitamins Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Ethanol Approved Phase 3 64-17-5 702
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
19 carnitine Phase 2, Phase 3
20 Nootropic Agents Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 3
22 Gastrointestinal Agents Phase 3
23 Narcotics Phase 3
24 Cathartics Phase 3
25 GABA Agonists Phase 3
26 Neurotransmitter Agents Phase 3
27 Narcotic Antagonists Phase 3
28 Laxatives Phase 3
29 Hematinics Phase 2, Phase 3
30 Epoetin alfa Phase 2, Phase 3 113427-24-0
31 Neuroprotective Agents Phase 2, Phase 3
32
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
33
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
35 Ubiquinone Phase 1, Phase 2
36 Vitamin B7 Phase 2
37 Ulipristal acetate Phase 2 126784-99-4
38
Iron Approved 7439-89-6 23925 29936
39
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
40
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
41 Analgesics
42 Calciferol
43 Calcium, Dietary
44 insulin
45 Insulin, Globin Zinc
46 Hemostatics
47 Immunosuppressive Agents
48 Immunologic Factors
49
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 62)
# 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 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 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
10 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
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 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
13 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
14 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
15 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
16 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
17 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
18 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
19 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
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 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 Terminated NCT03943290 Phase 2 ACE-083
22 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
23 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
24 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
25 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
26 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
27 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
28 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
29 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
30 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
31 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
32 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
33 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
34 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
35 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
36 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
37 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
38 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
39 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
40 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
41 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
42 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
43 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
44 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
45 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
46 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
47 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
48 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
49 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Completed NCT03966287
50 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 29 MPZ

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

40
Skeletal Muscle, Spinal Cord, Brain, Adrenal Gland, Heart, Skin

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

(show top 50) (show all 241)
# Title Authors PMID Year
1
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. 61 57 6
16488608 2006
2
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 6 57 61
10965800 2000
3
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 6 61 57
7693129 1993
4
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 57 6
11835375 2002
5
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. 6 61
23250879 2012
6
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. 61 57
21280073 2011
7
U1 snRNA mis-binding: a new cause of CMT1B. 61 6
19475438 2010
8
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 6 61
19293842 2009
9
Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. 6 61
17030746 2006
10
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. 61 6
11445635 2001
11
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. 61 6
10764043 2000
12
De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. 61 6
9168174 1997
13
Novel mutation of the myelin P0 gene in a CMT1B family. 6 61
8990016 1997
14
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 61 6
8816708 1996
15
Charcot-Marie-Tooth disease and related inherited neuropathies. 57 61
8862346 1996
16
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. 6 61
8664899 1996
17
Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. 6 61
8835320 1995
18
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. 61 6
7527371 1994
19
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. 6 61
7504284 1993
20
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. 6 61
7693130 1993
21
Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. 6 61
7688964 1993
22
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. 57 61
1683643 1991
23
Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region. 61 57
1683644 1991
24
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 6
26378787 2016
25
Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. 6
25694466 2015
26
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
27
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 6
25614874 2014
28
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations. 6
24444136 2014
29
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 6
24053775 2013
30
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 6
22689911 2012
31
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero. 6
21787890 2011
32
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 6
21840889 2011
33
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 57
21326314 2011
34
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. 6
20461396 2010
35
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. 6
18422810 2008
36
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. 57
18347322 2008
37
MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease. 6
18209201 2008
38
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. 6
17172621 2006
39
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 6
16775239 2006
40
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. 57
15699375 2005
41
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. 57
15642860 2005
42
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). 6
15159512 2004
43
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. 6
12845552 2003
44
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 6
12497641 2003
45
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 6
12477701 2003
46
Jean-Martin Charcot and the aging brain. 57
12433272 2002
47
Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 6
12221176 2002
48
Molecular cell biology of Charcot-Marie-Tooth disease. 57
12030326 2002
49
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. 57
11703329 2001
50
Charcot-Marie-tooth disease. 57
11405820 2001

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPZ NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) SNV Pathogenic 14175 rs121913590 GRCh37: 1:161276654-161276654
GRCh38: 1:161306864-161306864
2 MPZ NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) SNV Pathogenic 14166 rs121913583 GRCh37: 1:161276660-161276660
GRCh38: 1:161306870-161306870
3 MPZ NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) SNV Pathogenic 14167 rs121913584 GRCh37: 1:161276676-161276676
GRCh38: 1:161306886-161306886
4 MPZ NM_000530.8(MPZ):c.188_190del (p.Ser63del) Deletion Pathogenic 246121 rs879254109 GRCh37: 1:161277092-161277094
GRCh38: 1:161307302-161307304
5 MPZ NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) SNV Pathogenic 14174 rs121913589 GRCh37: 1:161276653-161276653
GRCh38: 1:161306863-161306863
6 MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Pathogenic 14176 rs121913589 GRCh37: 1:161276653-161276653
GRCh38: 1:161306863-161306863
7 MPZ NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) SNV Pathogenic 14177 rs121913585 GRCh37: 1:161277094-161277094
GRCh38: 1:161307304-161307304
8 MPZ NM_000530.8(MPZ):c.242A>G (p.His81Arg) SNV Pathogenic 14179 rs121913594 GRCh37: 1:161276704-161276704
GRCh38: 1:161306914-161306914
9 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic 14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
10 MPZ NM_000530.8(MPZ):c.584+2T>G SNV Pathogenic 246029 rs879254054 GRCh37: 1:161276117-161276117
GRCh38: 1:161306327-161306327
11 MPZ NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) SNV Pathogenic 14198 rs121913608 GRCh37: 1:161276579-161276579
GRCh38: 1:161306789-161306789
12 MPZ NM_000530.8(MPZ):c.276G>A (p.Val92=) SNV Pathogenic 14200 rs1558154193 GRCh37: 1:161276670-161276670
GRCh38: 1:161306880-161306880
13 MPZ NM_000530.8(MPZ):c.306del (p.Asp104fs) Deletion Pathogenic 41019 rs281865125 GRCh37: 1:161276640-161276640
GRCh38: 1:161306850-161306850
14 MPZ NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) SNV Pathogenic 41022 rs281865128 GRCh37: 1:161276216-161276216
GRCh38: 1:161306426-161306426
15 MPZ NM_000530.8(MPZ):c.645+1G>T SNV Pathogenic 41027 rs281865131 GRCh37: 1:161275897-161275897
GRCh38: 1:161306107-161306107
16 MPZ MPZ, THR216GLU-ARG Variation Pathogenic 14171 GRCh37:
GRCh38:
17 MPZ MPZ, ASP195TYR SNV Pathogenic 14201 GRCh37:
GRCh38:
18 MPZ NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) SNV Pathogenic 41018 rs267607244 GRCh37: 1:161276680-161276680
GRCh38: 1:161306890-161306890
19 MPZ NP_000521.1(MPZ):p.Asn116Ser protein only Pathogenic 208244 GRCh37:
GRCh38:
20 MPZ NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) SNV Pathogenic 217233 rs863225025 GRCh37: 1:161276536-161276536
GRCh38: 1:161306746-161306746
21 MPZ NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) SNV Pathogenic 14173 rs121913588 GRCh37: 1:161276537-161276537
GRCh38: 1:161306747-161306747
22 MPZ NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) SNV Pathogenic 14187 rs121913600 GRCh37: 1:161276638-161276638
GRCh38: 1:161306848-161306848
23 MPZ NM_000530.8(MPZ):c.588dup (p.Met197fs) Duplication Pathogenic 41023 rs281865129 GRCh37: 1:161275954-161275955
GRCh38: 1:161306164-161306165
24 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
25 MPZ NM_000530.8(MPZ):c.646-10_650del Deletion Pathogenic 217234 rs863225026 GRCh37: 1:161275763-161275777
GRCh38: 1:161305973-161305987
26 MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) SNV Pathogenic 14188 rs121913601 GRCh37: 1:161277049-161277049
GRCh38: 1:161307259-161307259
27 MPZ NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) SNV Pathogenic 243089 rs879253858 GRCh37: 1:161276543-161276543
GRCh38: 1:161306753-161306753
28 MPZ NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) SNV Pathogenic 14172 rs121913587 GRCh37: 1:161276542-161276542
GRCh38: 1:161306752-161306752
29 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic 14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
30 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
31 MPZ NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) SNV Pathogenic 41014 rs281865121 GRCh37: 1:161277193-161277193
GRCh38: 1:161307403-161307403
32 MPZ NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) SNV Pathogenic 41015 rs281865122 GRCh37: 1:161277107-161277107
GRCh38: 1:161307317-161307317
33 MPZ NM_000530.8(MPZ):c.241C>T (p.His81Tyr) SNV Pathogenic 41016 rs281865123 GRCh37: 1:161276705-161276705
GRCh38: 1:161306915-161306915
34 MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His) SNV Pathogenic 41017 rs281865124 GRCh37: 1:161276702-161276702
GRCh38: 1:161306912-161306912
35 MPZ NM_000530.8(MPZ):c.337G>T (p.Val113Phe) SNV Pathogenic 41020 rs281865126 GRCh37: 1:161276609-161276609
GRCh38: 1:161306819-161306819
36 MPZ NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) SNV Pathogenic 41021 rs281865127 GRCh37: 1:161276557-161276557
GRCh38: 1:161306767-161306767
37 MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) SNV Pathogenic 41024 rs267607247 GRCh37: 1:161275743-161275743
GRCh38: 1:161305953-161305953
38 MPZ NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) SNV Pathogenic 41025 rs281865133 GRCh37: 1:161277118-161277118
GRCh38: 1:161307328-161307328
39 MPZ NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) SNV Pathogenic 41026 rs281865130 GRCh37: 1:161276599-161276599
GRCh38: 1:161306809-161306809
40 MPZ NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) SNV Pathogenic 41028 rs281865132 GRCh37: 1:161275764-161275764
GRCh38: 1:161305974-161305974
41 MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) SNV Pathogenic 14185 rs121913598 GRCh37: 1:161277151-161277151
GRCh38: 1:161307361-161307361
42 MPZ NM_000530.8(MPZ):c.224A>T (p.Asp75Val) SNV Pathogenic 14184 rs121913597 GRCh37: 1:161277058-161277058
GRCh38: 1:161307268-161307268
43 MPZ NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) SNV Pathogenic 14186 rs121913599 GRCh37: 1:161276553-161276553
GRCh38: 1:161306763-161306763
44 MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) SNV Pathogenic 208146 rs797044845 GRCh37: 1:161277101-161277101
GRCh38: 1:161307311-161307311
45 MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) SNV Pathogenic 208148 rs281865128 GRCh37: 1:161276216-161276216
GRCh38: 1:161306426-161306426
46 MPZ NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) SNV Pathogenic 208149 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
47 MPZ NM_000530.8(MPZ):c.241C>T (p.His81Tyr) SNV Pathogenic 208147 rs281865123 GRCh37: 1:161276705-161276705
GRCh38: 1:161306915-161306915
48 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
49 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) SNV Likely pathogenic 462797 rs1553259648 GRCh37: 1:161276549-161276549
GRCh38: 1:161306759-161306759
50 MPZ Duplication Likely pathogenic 243058 GRCh37: 1:161275597-161275598
GRCh38: 1:161305807-161305808

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b:

72 (show top 50) (show all 54)
# Symbol AA change Variation ID SNP ID
1 MPZ p.Ile30Met VAR_004500 rs770546306
2 MPZ p.Val32Phe VAR_004501
3 MPZ p.Thr34Ile VAR_004502
4 MPZ p.Ser44Phe VAR_004503 rs121913598
5 MPZ p.Ser54Cys VAR_004504
6 MPZ p.Ser54Pro VAR_004505
7 MPZ p.Val58Phe VAR_004506
8 MPZ p.Ser63Phe VAR_004509 rs121913585
9 MPZ p.Tyr68Cys VAR_004511
10 MPZ p.Ser78Leu VAR_004512 rs121913601
11 MPZ p.His81Arg VAR_004513 rs121913594
12 MPZ p.Tyr82Cys VAR_004514 rs155325970
13 MPZ p.Asp90Glu VAR_004515 rs121913584
14 MPZ p.Gly93Glu VAR_004516 rs106050341
15 MPZ p.Lys96Glu VAR_004517 rs121913583
16 MPZ p.Arg98Cys VAR_004518 rs121913590
17 MPZ p.Arg98His VAR_004519 rs121913589
18 MPZ p.Arg98Pro VAR_004520 rs121913589
19 MPZ p.Arg98Ser VAR_004521
20 MPZ p.Ile99Thr VAR_004522
21 MPZ p.Trp101Cys VAR_004523
22 MPZ p.Ile112Thr VAR_004524 rs155325966
23 MPZ p.Asn122Ser VAR_004528
24 MPZ p.Thr124Met VAR_004529 rs121913595
25 MPZ p.Asp128Glu VAR_004532
26 MPZ p.Lys130Arg VAR_004534 rs281865127
27 MPZ p.Pro132Leu VAR_004535
28 MPZ p.Asp134Glu VAR_004536
29 MPZ p.Asp134Asn VAR_004537 rs155325964
30 MPZ p.Ile135Leu VAR_004538 rs879253858
31 MPZ p.Ile135Thr VAR_004539 rs121913587
32 MPZ p.Gly137Ser VAR_004540 rs121913588
33 MPZ p.Thr143Met VAR_004541 rs750724650
34 MPZ p.Gly163Arg VAR_004542 rs281865128
35 MPZ p.Gly167Ala VAR_004543
36 MPZ p.Asp35Tyr VAR_015971 rs121913596
37 MPZ p.Ile62Phe VAR_015972 rs121913602
38 MPZ p.Gly103Glu VAR_015976 rs121913600
39 MPZ p.Gly123Cys VAR_015977
40 MPZ p.Ser51Phe VAR_029971 rs155325979
41 MPZ p.Thr65Ile VAR_029974
42 MPZ p.Asp134Gly VAR_029979
43 MPZ p.Lys138Asn VAR_029980
44 MPZ p.Thr139Asn VAR_029981
45 MPZ p.Ser140Thr VAR_029982 rs572010627
46 MPZ p.Tyr145Ser VAR_029983 rs121913603
47 MPZ p.Val146Phe VAR_029984
48 MPZ p.Leu170Arg VAR_029985
49 MPZ p.Thr65Ala VAR_031886 rs155325976
50 MPZ p.Ser78Trp VAR_031887 rs121913601

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 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, Demyelinating, Type 1b

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 YARS1 SBF2 PRX PPP1R15A NEFL MTMR2
2 early endosome membrane GO:0031901 9.43 MTMR2 LITAF FIG4
3 axon GO:0030424 9.26 SBF2 NEFL MTMR2 GARS1
4 vacuolar membrane GO:0005774 9.16 SBF2 MTMR2
5 endosome membrane GO:0010008 8.92 SBF2 MTMR2 LITAF FIG4

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol dephosphorylation GO:0046856 9.46 MTMR2 FIG4
2 protein targeting to mitochondrion GO:0006626 9.43 MFN2 GDAP1
3 peripheral nervous system development GO:0007422 9.4 PMP22 EGR2
4 phosphatidylinositol metabolic process GO:0046488 9.37 MTMR2 FIG4
5 mitochondrial fusion GO:0008053 9.32 MFN2 GDAP1
6 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
7 peripheral nervous system myelin maintenance GO:0032287 9.16 SH3TC2 PRX
8 myelination GO:0042552 9.13 SBF2 MPZ EGR2
9 myelin assembly GO:0032288 8.8 PMP22 MTMR2 FIG4

Molecular functions related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR2 FIG4

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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