CMT1
MCID: CHR113
MIFTS: 36

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

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Neuropathy Type 1

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 1, also known as hereditary motorsensory neuropathy 1, is related to neuropathy and charcot-marie-tooth disease type 1. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds dihydrotestosterone and dihydroprogesterone have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and nervous system.

GeneReviews summary for cmt1

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

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

Name: Charcot-Marie-Tooth Neuropathy Type 1 19 20
Hereditary Motorsensory Neuropathy 1 19
Charcot-Marie-Tooth Disease, Type Ib 62
 
Hmsn1 19
Cmt1 19


Classifications:



Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Disease Type 1
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy charcot-marie-tooth neuropathy type 1
Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h 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 Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
Charcot-Marie-Tooth Disease Type 1a Charcot-Marie-Tooth Disease Type 1b
Charcot-Marie-Tooth Disease Type 1c Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease Type 1f Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Disease Type 2b1
Charcot-Marie-Tooth Disease Type 2b2 Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 4b1
Charcot-Marie-Tooth Disease Type 4b2 Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy Type 1a Charcot-Marie-Tooth Neuropathy Type 1d
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2r Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 4b3 Surf1-Related Charcot-Marie-Tooth Disease Type 4

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy30.5PMP22, MPZ, LITAF, NEFL, EGR2
2charcot-marie-tooth disease type 130.3PMP22, CMT1A
3charcot-marie-tooth disease30.2MPZ, PMP22
4tooth disease29.9PMP22, MPZ, EGR2
5dystonia10.5
6dystonia 110.5
7charcot-marie-tooth neuropathy type 410.3EGR2
8pelizaeus-merzbacher disease10.3MPZ
9hereditary neuropathy with liability to pressure palsies10.3PMP22
10charcot-marie-tooth disease, dominant intermediate b10.3
11charcot-marie-tooth disease type 1b10.2
12neuropathy, inflammatory demyelinating10.2PMP22, CMT1A
13polyradiculoneuropathy10.2PMP22
14charcot-marie-tooth disease type 1a10.1CMT1A, PMP22
15neuropathy, recurrent, with pressure palsies10.1CMT1A, PMP22
16charcot-marie-tooth neuropathy type 1a10.1MPZ, PMP22
17chronic inflammatory demyelinating polyneuropathy10.1PMP22, MPZ
18sensory neuropathy type 110.1
19brachial plexus neuropathy10.1MPZ, PMP22
20hereditary neuropathies10.1PMP22, MPZ
21neuronitis10.0
22charcot-marie-tooth disease type 2c10.0
23guillain-barre syndrome10.0MPZ, PMP22
24diabetic neuropathy10.0PMP22, MPZ
25neurilemmoma10.0MPZ, PMP22
26charcot-marie-tooth disease type 49.9PMP22, MPZ, EGR2
27charcot-marie-tooth disease type 39.9PMP22, MPZ, EGR2
28inherited peripheral neuropathy9.9PMP22, MPZ, EGR2
29polyneuropathy9.9EGR2, MPZ, PMP22
30charcot-marie-tooth neuropathy type 29.9NEFL, MPZ
31neuritis9.8PMP22, MPZ
32sensory peripheral neuropathy9.7PMP22, MPZ, LITAF, EGR2
33myopathy9.6PMP22, MPZ, NEFL, EGR2

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 for Charcot-Marie-Tooth Neuropathy Type 1

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Neuropathy Type 1

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

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 120 PMP22
2 Charcot-Marie-Tooth Neuropathy Type 1e20 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1

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Animal Models for Charcot-Marie-Tooth Neuropathy Type 1 or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.3EGR2, LITAF, MPZ, PMP22
2MP:00036317.3EGR2, NEFL, LITAF, MPZ, PMP22

Publications for Charcot-Marie-Tooth Neuropathy Type 1

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

idTitleAuthorsYear
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
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? (8011481)
1993
6
Charcot-Marie-Tooth Neuropathy Type 1 (20301384)
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

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

6 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1MPZNM_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
2MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
3MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
4MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
5MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
6MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
7MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
9MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
10MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
11MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
12MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
13MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
14MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
15MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
16MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
17MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
18MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
19MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
20MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
21MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
22MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
23MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
24MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
25MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
26MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
27MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
28MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764

Expression for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Pathways related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MPZ, PMP22

Compounds for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone44 28 24 1112.6MPZ, PMP22
2dihydroprogesterone449.5MPZ, PMP22
3ganglioside449.3MPZ, PMP22

GO Terms for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Biological processes related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:0074229.2EGR2, PMP22
2synaptic transmissionGO:0072689.0NEFL, MPZ, PMP22

Products for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Charcot-Marie-Tooth Neuropathy Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet