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 23 28
Hereditary Motor and Sensory Neuropathy Type I 69
Hereditary Motorsensory Neuropathy 1 23
Hmsn1 23
Cmt1 23

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:



External Ids:

UMLS 69 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 charcot-marie-tooth disease, demyelinating, type 1b. 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

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 30.6 EGR2 GJB1 MPZ PMP22
2 charcot-marie-tooth disease, demyelinating, type 1b 29.9 EGR2 GJB1 MPZ PMP22
3 neuropathy 29.5 EGR2 GJB1 MPZ PMP22
4 pmp2-related charcot-marie-tooth disease type 1 11.4
5 dystonia 10.2
6 charcot-marie-tooth disease, axonal, type 2f 9.9 GJB1 MPZ
7 charcot-marie-tooth disease, x-linked dominant, 1 9.9 GJB1 MPZ
8 hereditary motor and sensory neuropathy, type iic 9.9 GJB1 MPZ
9 hereditary neuropathy with liability to pressure palsy 9.8 MPZ PMP22
10 foot drop 9.8 MPZ PMP22
11 cauda equina syndrome 9.8 EGR2 PMP22
12 roussy-levy hereditary areflexic dystasia 9.8 MPZ PMP22
13 chronic inflammatory demyelinating polyradiculoneuropathy 9.8 MPZ PMP22
14 amyotrophic neuralgia 9.7 GJB1 PMP22
15 polyradiculoneuropathy 9.7 MPZ PMP22
16 pelizaeus-merzbacher disease 9.7 MPZ PMP22
17 guillain-barre syndrome 9.7 MPZ PMP22
18 neuritis 9.6 MPZ PMP22
19 diabetic neuropathy 9.6 MPZ PMP22
20 neuromuscular disease 9.5 MPZ PMP22
21 congenital hypomyelination neuropathy 9.5 EGR2 MPZ PMP22
22 charcot-marie-tooth disease, demyelinating, type 1f 9.4 GJB1 MPZ PMP22
23 motor peripheral neuropathy 9.4 GJB1 MPZ PMP22
24 hereditary neuropathies 9.4 GJB1 MPZ PMP22
25 polyneuropathy 9.4 MPZ PMP22
26 charcot-marie-tooth disease, axonal, type 2b 9.0 EGR2 GJB1 MPZ PMP22
27 neuropathy, hereditary, with liability to pressure palsies 9.0 EGR2 GJB1 MPZ PMP22
28 charcot-marie-tooth disease, demyelinating, type 1a 9.0 EGR2 GJB1 MPZ PMP22
29 charcot-marie-tooth disease, demyelinating, type 1d 9.0 EGR2 GJB1 MPZ PMP22
30 charcot-marie-tooth disease, demyelinating, type 1c 9.0 EGR2 GJB1 MPZ PMP22
31 hypertrophic neuropathy of dejerine-sottas 9.0 EGR2 GJB1 MPZ PMP22
32 sensory peripheral neuropathy 9.0 EGR2 GJB1 MPZ PMP22
33 peripheral nervous system disease 9.0 EGR2 GJB1 MPZ PMP22
34 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.0 EGR2 GJB1 MPZ PMP22
35 charcot-marie-tooth disease, axonal, type 2e 9.0 EGR2 GJB1 MPZ PMP22
36 tooth disease 9.0 EGR2 GJB1 MPZ PMP22
37 charcot-marie-tooth disease 9.0 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 PMP22 EGR2 GJB1 MPZ

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

43
# 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 EGR2 GJB1 MPZ PMP22
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 50-81-7 54670067 5785
2 4-des-dimethylaminotetracycline Phase 2, Phase 3
3 Micronutrients Phase 2, Phase 3
4 Trace Elements Phase 2, Phase 3
5 Vitamins Phase 2, Phase 3
6 Protective Agents Phase 2, Phase 3
7 Antioxidants 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 12)

# 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 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Recruiting NCT03124459 Phase 2 ACE-083
8 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Recruiting NCT02600286 Phase 2 EllaOne;EllaOne placebo
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2 MD1003
10 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
11 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
12 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191

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 28

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
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. ( 7688964 )
1993
5
Charcot-Marie-Tooth Neuropathy Type 1 ( 20301384 )
1993
6
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? ( 8011481 )
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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