CMT1A
MCID: CHR627
MIFTS: 58

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

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

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 19
Charcot-Marie-Tooth Disease Type 1a 11 19 58 75 14
Charcot-Marie-Tooth Disease, Type Ia 28 5 38 71
Cmt1a 57 11 58 73
Hmsn1a 57 11 73
Hereditary Motor and Sensory Neuropathy Ia 57 73
Hereditary Motor and Sensory Neuropathy 1a 11 19
Charcot-Marie-Tooth Neuropathy, Type 1a 57 53
Charcot-Marie-Tooth Neuropathy Type 1a 11 73
Charcot-Marie-Tooth Disease, Type 1a 57 12
Microduplication 17p12 11 58
Hmsn Ia 57 73
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a 57
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a 11
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 73
Charcot-Marie-Tooth Disease Demyelinating Type 1a 73
Charcot Marie Tooth Disease Type 1a 19
Charcot-Marie-Tooth Disease 1a 73
Hmsn 1a 19
Cmt 1a 19

Characteristics:


Inheritance:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a: Autosomal dominant 57
Charcot-Marie-Tooth Disease Type 1a: Autosomal dominant 58

Prevelance:

Charcot-Marie-Tooth Disease Type 1a: 6-9/10000 (Norway) 1-5/10000 (United Kingdom, Worldwide) 58

Age Of Onset:

Charcot-Marie-Tooth Disease Type 1a: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
insidious onset
variable severity
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, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness


HPO:

30
charcot-marie-tooth disease, demyelinating, type 1a:
Onset and clinical course variable expressivity slowly progressive insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0110148
OMIM® 57 118220
OMIM Phenotypic Series 57 PS118220
ICD10 31 G60.0
ICD10 via Orphanet 32 G60.0
UMLS via Orphanet 72 C0270911
Orphanet 58 ORPHA101081
UMLS 71 C0270911

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

UniProtKB/Swiss-Prot: 73 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 1a, also known as charcot-marie-tooth disease type 1a, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Baclofen and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tonsil and spinal cord, and related phenotypes are skeletal muscle atrophy and pes cavus

GARD: 19 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner.

OMIM®: 57 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (36,39:Lupski et al., 1991, 1992). (118220) (Updated 08-Dec-2022)

Disease Ontology: 11 A Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Wikipedia: 75 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 1a

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
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i Charcot-Marie-Tooth Disease, Demyelinating, Type 1h
Charcot-Marie-Tooth Disease, Demyelinating, Type 1j

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

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 32.2 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2a1 31.6 MPZ MFN2 GDAP1 GARS1
3 hereditary sensory neuropathy 31.4 SH3TC2 MPZ GDAP1
4 polyradiculoneuropathy 31.0 PMP22 PMP2 MPZ
5 hereditary neuropathies 30.9 PRX PMP22 MTMR2 MPZ MFN2 GJB1
6 charcot-marie-tooth disease type 2a2a 30.8 MFN2 GDAP1
7 neuritis 30.6 PMP22 PMP2 MPZ
8 nerve compression syndrome 30.5 SH3TC2 PMP22 MPZ
9 demyelinating polyneuropathy 30.5 SH3TC2 PMP22 NEFL MPZ GJB1 EGR2
10 pelizaeus-merzbacher disease 30.3 PMP22 MPZ GJB1
11 motor peripheral neuropathy 30.3 SH3TC2 PMP22 NEFL MFN2 GARS1
12 polyneuropathy 30.1 SH3TC2 PRX PMP22 MPZ LITAF GJB1
13 carpal tunnel syndrome 30.1 SH3TC2 PMP22 MPZ
14 demyelinating disease 30.1 NTF3 NRG1 NEFL MPZ
15 charcot-marie-tooth disease, axonal, type 2b2 30.0 NEFL MPZ MFN2 GDAP1 GARS1
16 sensory peripheral neuropathy 29.4 SH3TC2 PRX PMP22 NTF3 MTMR2 MPZ
17 tooth disease 29.2 SH3TC2 SBF2 PRX PMP22 PMP2 NEFL
18 neuropathy, hereditary, with liability to pressure palsies 29.2 TEKT3 SH3TC2 SBF2 PRX PMP22 NEFL
19 charcot-marie-tooth disease, x-linked dominant, 1 29.1 SH3TC2 PMP22 NEFL MTMR2 MPZ MFN2
20 neuropathy 29.1 SH3TC2 SBF2 PRX PMP22 PMP2 NEFL
21 charcot-marie-tooth disease and deafness 29.1 TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
22 charcot-marie-tooth disease 29.1 TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
23 hypertrophic neuropathy of dejerine-sottas 29.0 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
24 charcot-marie-tooth disease, type 4c 28.9 SH3TC2 SBF2 NEFL MTMR2 MPZ MFN2
25 charcot-marie-tooth disease, demyelinating, type 1b 28.5 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
26 peripheral nervous system disease 28.4 SH3TC2 SBF2 PRX PMP22 PMP2 NTF3
27 charcot-marie-tooth disease, axonal, type 2e 28.1 SH3TC2 SBF2 PRX PMP22 NTF3 NEFL
28 neuromuscular disease 27.6 SH3TC2 SBF2 PRX PMP22 PMP2 NRG1
29 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.6 TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
30 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
31 yuan-harel-lupski syndrome 10.9
32 tremor 10.6
33 papillon-lefevre syndrome 10.4
34 mononeuropathy of the median nerve, mild 10.4
35 progressive muscular atrophy 10.4
36 gdap1-related hereditary motor and sensory neuropathy 10.4
37 ulnar neuropathy 10.3 PMP22 MPZ
38 argyll robertson pupil 10.3 MPZ EGR2
39 abnormal pupillary function 10.3 MPZ EGR2
40 sciatic neuropathy 10.3 SH3TC2 PMP22
41 mononeuritis of lower limb 10.3 SH3TC2 PMP22
42 lesion of sciatic nerve 10.3 SH3TC2 PMP22
43 brachial plexus neuropathy 10.3 PMP22 MPZ GJB1
44 asymmetric motor neuropathy 10.3 PMP22 MFN2
45 peroneal neuropathy 10.3 PMP22 MPZ LITAF
46 muscular dystrophy, duchenne type 10.3
47 hypothyroidism 10.3
48 talipes equinovarus 10.3
49 genetic motor neuron disease 10.3 SH3TC2 MPZ MFN2
50 charcot-marie-tooth disease, dominant intermediate f 10.3 MPZ GDAP1

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



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

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

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

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
2 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
3 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001265
4 decreased motor nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0003431
5 distal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002460
6 distal sensory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002936
7 sensory ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010871
8 decreased sensory nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0003448
9 kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002751
10 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
11 gait imbalance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002141
12 diaphragmatic weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009113
13 calf muscle hypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008981
14 spontaneous pain sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010833
15 shoulder pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030834
16 acute demyelinating polyneuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007131
17 hyperactive deep tendon reflexes 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006801
18 gait disturbance 58 Frequent (79-30%)
19 hearing impairment 30 HP:0000365
20 impaired pain sensation 30 HP:0007328
21 areflexia 30 HP:0001284
22 split hand 30 HP:0001171
23 peripheral neuropathy 30 HP:0009830
24 impaired vibratory sensation 30 HP:0002495
25 steppage gait 30 HP:0003376
26 foot dorsiflexor weakness 30 HP:0009027
27 hammertoe 30 HP:0001765
28 limb muscle weakness 30 HP:0003690
29 demyelinating peripheral neuropathy 58 Frequent (79-30%)
30 impaired temperature sensation 30 HP:0010829
31 distal amyotrophy 30 HP:0003693
32 decreased number of peripheral myelinated nerve fibers 30 HP:0003380
33 segmental peripheral demyelination/remyelination 30 HP:0003481
34 abnormal motor neuron morphology 30 HP:0002450
35 onion bulb formation 30 HP:0003383
36 cold-induced muscle cramps 30 HP:0003449
37 myelin outfoldings 30 HP:0004336
38 hypertrophic nerve changes 30 HP:0003382
39 ulnar claw 30 HP:0001178

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
cold-induced muscle cramps
hypertrophic nerve changes
more
Skeletal Spine:
kyphoscoliosis may occur

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Hands:
claw hand deformities (in severe cases)

Clinical features from OMIM®:

118220 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

25 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
2 no effect GR00402-S-2 10.17 ARHGEF10 EGR2 FIG4 GDAP1 LITAF MFN2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.09 FGD4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.09 GARS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.09 FGD4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-15 10.09 FGD4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.09 GARS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.09 GARS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.09 GARS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10.09 NRG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.09 GARS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.09 NRG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.09 FGD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.09 GARS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.09 GARS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.09 NRG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.09 NRG1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.09 NRG1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.09 GARS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.09 GARS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-40 10.09 NRG1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.09 GARS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.09 FGD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.09 GARS1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.09 FGD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 GARS1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.09 FGD4 GARS1 NRG1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.3 ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
2 homeostasis/metabolism MP:0005376 10 ARHGEF10 EGR2 FGD4 GARS1 GDAP1 GJB1
3 behavior/neurological MP:0005386 9.93 ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
4 muscle MP:0005369 9.8 FIG4 GARS1 MFN2 NRG1 NTF3 PMP22
5 reproductive system MP:0005389 9.32 EGR2 GDAP1 MFN2 MPZ MTMR2 NRG1

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

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 3 1134-47-0 2284
2
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
3
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
4
Ethanol Approved Phase 3 64-17-5 702
5
Ascorbic acid Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54676860 54670067 5785
6 Vitamins Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Antioxidants Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Pharmaceutical Solutions Phase 3
12 Cathartics Phase 3
13 Neurotransmitter Agents Phase 3
14 Laxatives Phase 3
15 GABA Agonists Phase 3
16 Gastrointestinal Agents Phase 3
17 Narcotic Antagonists Phase 3
18 Narcotics Phase 3
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 253 171548
21 Folate Phase 2
22 Vitamin B9 Phase 2
23 Vitamin B7 Phase 2
24 Vitamin B Complex Phase 2
25
Ulipristal acetate Phase 2 126784-99-4 13559282 130904

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Phase III Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Treated 15 Months Recruiting NCT05092841 Phase 3 PXT3003;PXT3003 placebo
5 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
6 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) Active, not recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
7 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
8 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
9 Single Center, Open Label, Repeat Intramuscular Administration, 270 Days, Phase I/2a Clinical Trial to Evaluate Safety, Tolerability of Investigational Product (Engensis: VM202) With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A) Completed NCT05361031 Phase 1, Phase 2
10 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Suspended NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
11 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
12 Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A Recruiting NCT05333406 Phase 1 EN001
13 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Unknown status NCT03550300
14 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
15 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
16 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
17 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
18 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
19 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
20 Driving Ability in Patients With CMT 1A Completed NCT02357355
21 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Recruiting NCT02596191
22 Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test Recruiting NCT05142059
23 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ia 28 PMP22

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

Organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

MalaCards : Skeletal Muscle, Tonsil, Spinal Cord, Skin, Brain
ODiseA: Peripheral Nerve

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

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

(show top 50) (show all 1030)
# Title Authors PMID Year
1
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. 62 57 5
24530202 2014
2
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 62 57 5
15205993 2004
3
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. 62 57 5
1303281 1992
4
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. 62 57 5
1301995 1992
5
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. 62 57 5
1677316 1991
6
De-novo mutation in hereditary motor and sensory neuropathy type I. 57 5
1349106 1992
7
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). 57 5
1564512 1992
8
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. 53 62 57
10489052 1999
9
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. 53 62 57
8834051 1996
10
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. 62 5
22006697 2011
11
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 62 5
21252112 2011
12
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. 62 57
21280073 2011
13
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. 62 57
19888301 2010
14
PMP22 expression in dermal nerve myelin from patients with CMT1A. 62 57
19447823 2009
15
Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. 62 57
18852440 2008
16
Neuropathy progression in Charcot-Marie-Tooth disease type 1A. 62 57
18227419 2008
17
Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. 62 57
17353481 2007
18
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. 62 57
17262851 2007
19
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. 62 57
16157899 2005
20
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. 62 57
15034573 2004
21
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). 62 57
14608378 2003
22
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 62 57
11835375 2002
23
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. 62 57
11331611 2001
24
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. 62 57
11214130 2001
25
Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. 62 57
10078755 1999
26
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. 62 57
9842994 1998
27
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. 62 57
8981968 1997
28
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. 62 57
8682501 1996
29
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. 62 57
8733121 1996
30
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. 62 57
8644705 1996
31
Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. 62 57
8847735 1995
32
Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. 62 57
7501164 1995
33
Inheritance of CMT1A duplication from a mosaic father. 62 57
7666403 1995
34
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. 62 57
8615087 1995
35
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. 62 57
7853375 1994
36
Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. 62 57
7834893 1994
37
Detection of tandem duplications and implications for linkage analysis. 62 57
8198134 1994
38
Genetic basis of inherited peripheral neuropathies. 62 57
7515304 1994
39
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. 62 5
8105684 1993
40
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. 62 5
8510709 1993
41
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. 62 5
8500795 1993
42
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). 62 5
8492918 1993
43
Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. 62 57
8418668 1993
44
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. 62 57
1729894 1992
45
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. 62 5
1552536 1992
46
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. 62 5
1552545 1992
47
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. 62 5
1721895 1991
48
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. 62 57
1674726 1991
49
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. 62 5
1822787 1991
50
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. 62 57
1978559 1990

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

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

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.4-MB DUP DUP Pathogenic
8427 GRCh37:
GRCh38:
2 PMP22 NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) SNV Pathogenic
8429 rs104894618 GRCh37: 17:15142871-15142871
GRCh38: 17:15239554-15239554
3 PMP22 NM_000304.4(PMP22):c.281del (p.Gly94fs) DEL Pathogenic
30158 rs80338763 GRCh37: 17:15142826-15142826
GRCh38: 17:15239509-15239509
4 overlap with 8 genes GRCh37/hg19 17p12(chr17:14063251-15449627) CN GAIN Pathogenic
625724 GRCh37: 17:14063251-15449627
GRCh38:
5 overlap with 8 genes GRCh37/hg19 17p12(chr17:14104012-15422557) CN GAIN Pathogenic
625726 GRCh37: 17:14104012-15422557
GRCh38:
6 overlap with 11 genes GRCh37/hg19 17p12(chr17:14105874-15611546) CN GAIN Pathogenic
625728 GRCh37: 17:14105874-15611546
GRCh38:
7 PMP22 NC_000017.11:g.15133096_15164093dup DUP Pathogenic
977285 GRCh37: 17:15036412-15036413
GRCh38: 17:15133095-15133096
8 PMP22 NM_000304.4(PMP22):c.35A>G (p.His12Arg) SNV Pathogenic
835185 rs1909248652 GRCh37: 17:15164010-15164010
GRCh38: 17:15260693-15260693
9 overlap with 9 genes GRCh37/hg19 17p12(chr17:14096089-15492591)x3 CN GAIN Pathogenic
1330204 GRCh37: 17:14096089-15492591
GRCh38:
10 PMP22 NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) SNV Pathogenic
8433 rs104894621 GRCh37: 17:15142892-15142892
GRCh38: 17:15239575-15239575
11 overlap with 9 genes DUP Pathogenic
598751 GRCh37: 17:14087933-15500645
GRCh38:
12 PMP22 NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) SNV Pathogenic
8428 rs104894617 GRCh37: 17:15163998-15163998
GRCh38: 17:15260681-15260681
13 PMP22 NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) SNV Pathogenic
8445 rs104894625 GRCh37: 17:15163980-15163980
GRCh38: 17:15260663-15260663
14 PMP22 NM_000304.4(PMP22):c.434del (p.Leu145fs) DEL Pathogenic
217238 rs863225029 GRCh37: 17:15134283-15134283
GRCh38: 17:15230966-15230966
15 PMP22 PMP22, 1.4-MB TRIPLICATION VAR Pathogenic
127097 GRCh37:
GRCh38:
16 PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs) DUP Pathogenic
8437 rs80338763 GRCh37: 17:15142825-15142826
GRCh38: 17:15239508-15239509
17 PMP22 NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) SNV Likely Pathogenic
8443 rs104894623 GRCh37: 17:15142908-15142908
GRCh38: 17:15239591-15239591
18 PMP22 NM_000304.4(PMP22):c.341C>T (p.Ala114Val) SNV Likely Pathogenic
1184514 GRCh37: 17:15134376-15134376
GRCh38: 17:15231059-15231059
19 PMP22 NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) SNV Likely Pathogenic
217236 rs863225027 GRCh37: 17:15142872-15142872
GRCh38: 17:15239555-15239555
20 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain Significance
462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
21 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain Significance
188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
22 PMP22 NM_000304.4(PMP22):c.102C>A (p.His34Gln) SNV Uncertain Significance
1339254 GRCh37: 17:15162487-15162487
GRCh38: 17:15259170-15259170
23 PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV Uncertain Significance
8431 rs104894619 GRCh37: 17:15134364-15134364
GRCh38: 17:15231047-15231047
24 TEKT3 GRCh37/hg19 17p12(chr17:15229779-15265326)x3 CN GAIN Not Provided
1177482 GRCh37: 17:15229779-15265326
GRCh38:
25 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg) SNV Not Provided
586345 rs1567698985 GRCh37: 17:15134355-15134355
GRCh38: 17:15231038-15231038

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

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Leu16Pro VAR_006360 rs104894617
2 PMP22 p.Ser72Leu VAR_006363 rs104894621
3 PMP22 p.Ser79Cys VAR_006367 rs104894618
4 PMP22 p.Leu105Arg VAR_006373
5 PMP22 p.Gly107Val VAR_006374
6 PMP22 p.Thr118Met VAR_006375 rs104894619
7 PMP22 p.Leu147Arg VAR_006377
8 PMP22 p.Asp37Val VAR_009660 rs104894627
9 PMP22 p.Gly93Arg VAR_009662 rs778693173
10 PMP22 p.Ser22Phe VAR_029960 rs104894625
11 PMP22 p.Val65Phe VAR_029964

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

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

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

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.34 PMP22 MPZ GJB1
2 10.83 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
3 10.7 PRX PMP22 MPZ EGR2

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.36 SBF2 NTF3 NRG1 NEFL MTMR2 GARS1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of myelination GO:0031642 9.71 MTMR2 FIG4
2 peripheral nervous system myelin maintenance GO:0032287 9.67 SH3TC2 PRX
3 myelin assembly GO:0032288 9.63 PMP22 MTMR2 FIG4
4 myelination in peripheral nervous system GO:0022011 9.56 SH3TC2 NRG1 ARHGEF10
5 Schwann cell differentiation GO:0014037 9.5 NRG1 EGR2
6 peripheral nervous system development GO:0007422 9.5 PMP22 NTF3 NRG1 EGR2
7 myelination GO:0042552 9.28 SBF2 PMP22 MTMR2 MPZ FIG4 EGR2

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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