MCID: CHR113
MIFTS: 27

Charcot-Marie-Tooth Neuropathy Type 1

Categories: Neuronal diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 1:

Name: Charcot-Marie-Tooth Neuropathy Type 1 24 29
Hereditary Motor and Sensory Neuropathy Type I 73
Hereditary Motorsensory Neuropathy 1 24
Hmsn1 24
Cmt1 24

Characteristics:

GeneReviews:

24
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:



External Ids:

UMLS 73 C0751036

Summaries for Charcot-Marie-Tooth Neuropathy Type 1

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 1, also known as hereditary motor and sensory neuropathy type i, is related to charcot-marie-tooth disease and deafness and neuropathy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is MPZ (Myelin Protein Zero), 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 Increased gamma-H2AX phosphorylation and behavior/neurological

GeneReviews: NBK1205

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

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

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 29.8 EGR2 GJB1 MPZ PMP22
2 neuropathy 28.7 EGR2 GJB1 MPZ PMP22
3 pmp2-related charcot-marie-tooth disease type 1 11.4
4 dystonia 10.2
5 early-onset generalized dystonia 10.2
6 charcot-marie-tooth disease, axonal, type 2q 10.1 EGR2 MPZ
7 charcot-marie-tooth disease, axonal, type 2f 9.9 GJB1 MPZ
8 charcot-marie-tooth disease, x-linked dominant, 1 9.9 GJB1 MPZ
9 hereditary motor and sensory neuropathy, type iic 9.8 GJB1 MPZ
10 hereditary neuropathy with liability to pressure palsy 9.8 MPZ PMP22
11 congenital hypomyelination neuropathy 9.8 MPZ PMP22
12 foot drop 9.7 MPZ PMP22
13 roussy-levy hereditary areflexic dystasia 9.7 MPZ PMP22
14 charcot-marie-tooth disease, demyelinating, type 1c 9.7 MPZ PMP22
15 cauda equina syndrome 9.7 EGR2 PMP22
16 chronic inflammatory demyelinating polyradiculoneuropathy 9.6 MPZ PMP22
17 polyradiculoneuropathy 9.6 MPZ PMP22
18 amyotrophic neuralgia 9.6 GJB1 PMP22
19 pelizaeus-merzbacher disease 9.6 MPZ PMP22
20 brachial plexus neuropathy 9.5 GJB1 PMP22
21 guillain-barre syndrome 9.5 MPZ PMP22
22 neuritis 9.5 MPZ PMP22
23 diabetic neuropathy 9.4 MPZ PMP22
24 neuromuscular disease 9.2 MPZ PMP22
25 charcot-marie-tooth disease, demyelinating, type 1f 9.1 GJB1 MPZ PMP22
26 motor peripheral neuropathy 9.1 GJB1 MPZ PMP22
27 hereditary neuropathies 9.0 GJB1 MPZ PMP22
28 sensory peripheral neuropathy 9.0 GJB1 MPZ PMP22
29 polyneuropathy 9.0 MPZ PMP22
30 trehalase deficiency 8.6 GJB1 MPZ PMP22
31 charcot-marie-tooth disease, demyelinating, type 1b 8.5 EGR2 GJB1 MPZ PMP22
32 neuropathy, hereditary, with liability to pressure palsies 8.5 EGR2 GJB1 MPZ PMP22
33 charcot-marie-tooth disease, axonal, type 2b 8.5 EGR2 GJB1 MPZ PMP22
34 charcot-marie-tooth disease, demyelinating, type 1a 8.5 EGR2 GJB1 MPZ PMP22
35 charcot-marie-tooth disease, demyelinating, type 1d 8.5 EGR2 GJB1 MPZ PMP22
36 hypertrophic neuropathy of dejerine-sottas 8.5 EGR2 GJB1 MPZ PMP22
37 peripheral nervous system disease 8.5 EGR2 GJB1 MPZ PMP22
38 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 8.5 EGR2 GJB1 MPZ PMP22
39 charcot-marie-tooth disease, axonal, type 2e 8.4 EGR2 GJB1 MPZ PMP22
40 tooth disease 8.4 EGR2 GJB1 MPZ PMP22
41 charcot-marie-tooth disease 8.4 EGR2 GJB1 MPZ 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 EGR2 GJB1 MPZ PMP22

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.46 EGR2 GJB1 MPZ PMP22
2 cellular MP:0005384 9.26 MPZ PMP22 EGR2 GJB1
3 nervous system MP:0003631 8.92 EGR2 GJB1 MPZ PMP22

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3,Phase 3 50-81-7 5785 54670067
2 4-des-dimethylaminotetracycline Phase 2, Phase 3,Phase 3,Not Applicable
3 Micronutrients Phase 2, Phase 3
4 Trace Elements Phase 2, Phase 3
5 Vitamins Phase 2, Phase 3
6 Antioxidants Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 3,Phase 2
9
protease inhibitors
10 HIV Protease Inhibitors
11 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
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 Ascorbic acid (Vitamin C);placebo
3 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
4 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
5 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
6 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
7 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
8 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2 ACE-083;Placebo
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2 MD1003
10 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
11 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
12 Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC) Completed NCT03460951
13 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
14 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191 Not Applicable

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:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 1 29

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:

# 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

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.16 MPZ PMP22
2 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
3 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
17 ExPASy
19 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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