CMT1
MCID: CHR113
MIFTS: 31

Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) malady

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 1

Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy Type 1:

Name: Charcot-Marie-Tooth Neuropathy Type 1 23 24
Charcot-Marie-Tooth Neuropathy Type 1e 24 29
Dejerine-Sottas Disease 24 69
Hmsn1 23 24
Cmt1 23 24
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 69
Hereditary Motor and Sensory Neuropathy Type I 69
Hereditary Motor and Sensory Neuropathy 1 24
Charcot-Marie-Tooth Disease and Deafness 24
Hereditary Motorsensory Neuropathy 1 23
Cmt 1e 24
Cmt1e 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance of cmt1 is usually nearly 100%, but the wide range in age of onset and severity may result in under-recognition of individuals with mild or late-onset disease...

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 1

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 1, also known as charcot-marie-tooth neuropathy type 1e, is related to dejerine-sottas disease and charcot-marie-tooth disease, type 1e, and has symptoms including ataxia, sensory An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and nervous system

GeneReviews: NBK1205

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Charcot-Marie-Tooth Neuropathy X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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

(show all 50)
id Related Disease Score Top Affiliating Genes
1 dejerine-sottas disease 33.5 GJB1 MPZ PMP22
2 charcot-marie-tooth disease, type 1e 31.4 EGR2 GJB1 MPZ PMP22
3 neuropathy, congenital hypomyelinating 30.9 EGR2 GJB1 LITAF MPZ PMP22 PRX
4 pmp2-related charcot-marie-tooth disease type 1 11.3
5 charcot-marie-tooth disease, type 4f 11.2
6 charcot-marie-tooth neuropathy type 4f 11.2
7 neuropathy 10.6
8 charcot-marie-tooth neuropathy 10.6
9 craniorachischisis 10.2 MPZ PMP22
10 hypertonia 10.2 MPZ PMP22
11 dystonia 10.1
12 von economo's disease 10.1 MPZ PMP22
13 bladder lateral wall cancer 10.1 EGR2 PMP22
14 mohr-tranebjaerg syndrome 10.1 MPZ PMP22
15 non-gestational choriocarcinoma 10.1 MPZ PMP22
16 choreatic disease 10.1 MPZ PMP22
17 childhood infratentorial neoplasm 10.1 LITAF PMP22
18 status epilepticus 10.1 MPZ PMP22
19 dilated cardiomyopathy 10.1 MPZ PMP22
20 white piedra 10.1 MPZ PMP22
21 williams-beuren syndrome 10.0 GJB1 MPZ
22 spermatogenic failure, x-linked, 2 10.0 GJB1 MPZ
23 hereditary type 2 neuropathy 10.0 LITAF MPZ PMP22
24 parastremmatic dwarfism 10.0 GJB1 MPZ
25 pituitary adenoma, prolactin-secreting 9.9 MPZ NEFL PMP22
26 phototoxic dermatitis 9.9 MPZ PMP22
27 ovarian stromal hyperthecosis 9.9 NEFL PMP22
28 aortic aneurysm, familial thoracic 4 9.9 LITAF MPZ NEFL
29 acute sanguinous otitis media 9.9 GJB1 MPZ PMP22
30 infantile epileptic encephalopathy 9.9 GJB1 MPZ PMP22
31 thrombophilia due to antithrombin iii deficiency 9.9 GJB1 MPZ PMP22
32 uterine ligament serous adenocarcinoma 9.9 GJB1 MPZ PMP22
33 substance-induced psychosis 9.8 GJB1 MPZ PMP22
34 hypertrophic osteoarthropathy, primary, autosomal recessive 2 9.7 EGR2 GJB1 MPZ PMP22
35 neuropathy, inflammatory demyelinating 9.7 EGR2 GJB1 MPZ PMP22
36 nephrolithiasis, uric acid 9.7 EGR2 GJB1 MPZ PMP22
37 chkb-related muscle diseases 9.7 EGR2 GJB1 MPZ PMP22
38 pneumonic plague 9.7 GJB1 MPZ PMP22 PRX
39 korsakoff's amnesic syndrome 9.7 GJB1 MPZ PMP22 PRX
40 surfactant metabolism dysfunction, pulmonary, 2 9.7 GJB1 MPZ NEFL PMP22
41 conotruncal heart malformations 9.6 GJB1 MPZ NEFL PMP22
42 chrna1-related congenital myasthenic syndrome 9.5 EGR2 GJB1 MPZ PMP22 PRX
43 deafness, autosomal recessive 76 9.5 EGR2 GJB1 MPZ PMP22 PRX
44 potocki-lupski syndrome 9.5 EGR2 GJB1 LITAF MPZ PMP22
45 charcot-marie-tooth disease, type 2j 9.5 EGR2 GJB1 MPZ PMP22 PRX
46 carotid body cancer 9.5 EGR2 GJB1 MPZ PMP22 PRX
47 senile angioma 9.3 EGR2 GJB1 LITAF MPZ PMP22 PRX
48 classic galactosemia and clinical variant galactosemia 9.1 EGR2 GJB1 LITAF MPZ NEFL PMP22
49 wernicke-korsakoff syndrome 9.1 EGR2 GJB1 LITAF MPZ NEFL PMP22
50 chromophobe renal cell carcinoma 9.1 EGR2 GJB1 LITAF MPZ NEFL PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 1:



Diseases related to Charcot-Marie-Tooth Neuropathy Type 1

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 1

UMLS symptoms related to Charcot-Marie-Tooth Neuropathy Type 1:


ataxia, sensory

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 EGR2 GJB1 MPZ NEFL PMP22 PRX
2 nervous system MP:0003631 9.17 PRX EGR2 GJB1 LITAF MPZ NEFL

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 1

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
2 4-des-dimethylaminotetracycline Phase 2, Phase 3
3 Trace Elements Phase 2, Phase 3
4 Vitamins Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7 Antioxidants Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 3,Phase 2
9 serine Nutraceutical Phase 1, Phase 2
10
Epinephrine Approved, Vet_approved 51-43-4 5816
11
Lidocaine Approved, Vet_approved 137-58-6 3676
12
Menthol Approved 2216-51-5 16666
13
protease inhibitors
14 HIV Protease Inhibitors
15 Matrix Metalloproteinase Inhibitors
16 Mydriatics
17 Adrenergic Agents
18 Adrenergic Agonists
19 Adrenergic alpha-Agonists
20 Adrenergic beta-Agonists
21 Neurotransmitter Agents
22 Anesthetics
23 Peripheral Nervous System Agents
24 Vasoconstrictor Agents
25 Epinephryl borate
26 Anti-Asthmatic Agents
27 Racepinephrine
28 Respiratory System Agents
29 Autonomic Agents
30 Bronchodilator Agents
31 Central Nervous System Depressants
32 Calamus Nutraceutical

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
2 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
3 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
4 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
5 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
6 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
7 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
8 Acupuncture for Carpal Tunnel Syndrome Completed NCT00000394 Phase 2
9 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2
10 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2
11 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2
12 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Active, not recruiting NCT01733407 Phase 1, Phase 2
13 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
14 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Unknown status NCT01193088
15 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075
16 Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel Syndrome Completed NCT02217293
17 Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical Traction Completed NCT01949493
18 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Platelet Rich Plasma and Hydrodissection for Carpal Tunnel Syndrome Recruiting NCT02986828
20 Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611) Recruiting NCT02979145
21 The Effect of Platelet Rich Plasma for Carpal Tunnel Syndrome Recruiting NCT02539186
22 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191
23 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Not yet recruiting NCT02982343
24 Surgical Treatment of Carpal Tunnel Syndrome: Local Anesthesia With Epinephrine x Intravenous Regional Anesthesia. Not yet recruiting NCT02986347

Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 1

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1

Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 1 29 24 PMP22
2 Charcot-Marie-Tooth Neuropathy Type 1e 24 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1

Publications for Charcot-Marie-Tooth Neuropathy Type 1

Articles related to Charcot-Marie-Tooth Neuropathy Type 1:

id Title Authors Year
1
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. ( 21412843 )
2011
2
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1. ( 16922730 )
2006
3
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie- Tooth neuropathy type 1: identification of five new mutations. ( 8990008 )
1997
4
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? ( 8011481 )
1993
5
Charcot-Marie-Tooth Neuropathy Type 1 ( 20301384 )
1993
6
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. ( 7688964 )
1993
7
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. ( 1407588 )
1992
8
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. ( 2220808 )
1990
9
Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. ( 3163969 )
1988

Variations for Charcot-Marie-Tooth Neuropathy Type 1

ClinVar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 1:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh37 Chromosome 19, 40903673: 40903673
2 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh37 Chromosome 19, 40901051: 40901051
3 PRX PRX, 10-BP INS, NT394 insertion Pathogenic
4 PRX PRX, 4-BP DEL, 1194TTCC deletion Pathogenic
5 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
6 PMP22 NM_000304.3(PMP22): c.199G> C (p.Ala67Pro) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
7 PMP22 NM_000304.3(PMP22): c.82T> C (p.Trp28Arg) single nucleotide variant Pathogenic rs104894626 GRCh37 Chromosome 17, 15162507: 15162507
8 PMP22 NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del) deletion Pathogenic rs786205111 GRCh38 Chromosome 17, 15231045: 15231056
9 PMP22 NM_000304.3(PMP22): c.469C> T (p.Arg157Trp) single nucleotide variant Pathogenic rs28936682 GRCh37 Chromosome 17, 15134248: 15134248
10 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
11 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
12 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
13 PMP22 NM_000304.3(PMP22): c.117G> C (p.Trp39Cys) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472
14 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh38 Chromosome 19, 40395565: 40395565

Expression for Charcot-Marie-Tooth Neuropathy Type 1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 1.

Pathways for Charcot-Marie-Tooth Neuropathy Type 1

Pathways related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards Suite gene sharing:

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

GO Terms for Charcot-Marie-Tooth Neuropathy Type 1

Biological processes related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
2 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Charcot-Marie-Tooth Neuropathy Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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