CMT1
MCID: CHR113
MIFTS: 35

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

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

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19GeneReviews, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 1, also known as hereditary motor and sensory neuropathies, is related to neuropathy and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is PMP22 (peripheral myelin protein 22), 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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62UMLS, 19GeneReviews, 20GeneTests
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth neuropathy type 1 19 20
hereditary motor and sensory neuropathies 62
charcot-marie-tooth disease, type ib 62
hereditary motorsensory neuropathy 1 19
dejerine-sottas disease 62
hmsn1 19
cmt1 19


Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease Type 2
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 1e 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 2e 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 Disease Type 4e
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 1e
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 4e
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 35)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.2NEFL, PMP22, EGR2, MPZ, LITAF
2charcot-marie-tooth disease30.1MPZ, PMP22
3tooth disease30.0EGR2, MPZ, PMP22
4dystonia10.4
5dystonia 110.4
6charcot-marie-tooth disease, dominant intermediate b10.3
7charcot-marie-tooth disease type 110.2
8charcot-marie-tooth disease type 1b10.2
9charcot-marie-tooth neuropathy type 410.1EGR2
10pelizaeus-merzbacher disease10.1MPZ
11hereditary neuropathy with liability to pressure palsies10.1PMP22
12sensory neuropathy type 110.1
13charcot-marie-tooth disease type 1a10.0PMP22, CMT1A
14neuropathy, recurrent, with pressure palsies10.0CMT1A, PMP22
15polyradiculoneuropathy10.0PMP22
16neuropathy, inflammatory demyelinating10.0CMT1A, PMP22
17charcot-marie-tooth disease type 1e10.0CMT1A, PMP22
18charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22
19motor peripheral neuropathy10.0PMP22, MPZ
20chronic inflammatory demyelinating polyradiculoneuropathy10.0MPZ, PMP22
21neuronitis10.0
22charcot-marie-tooth disease type 2c10.0
23brachial plexus neuropathy10.0MPZ, PMP22
24hereditary neuropathies10.0PMP22, MPZ
25guillain-barre syndrome10.0MPZ, PMP22
26diabetic neuropathy10.0PMP22, MPZ
27neurilemmoma10.0PMP22, MPZ
28charcot-marie-tooth disease type 4e10.0PMP22, EGR2, MPZ
29inherited peripheral neuropathy10.0EGR2, PMP22, MPZ
30charcot-marie-tooth disease type 310.0EGR2, MPZ, PMP22
31polyneuropathy10.0MPZ, EGR2, PMP22
32charcot-marie-tooth neuropathy type 210.0NEFL, MPZ
33neuritis10.0PMP22, MPZ
34sensory peripheral neuropathy9.9EGR2, LITAF, PMP22, MPZ
35myopathy9.9EGR2, MPZ, PMP22, NEFL

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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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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

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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37MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 1:

37
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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 1:

1 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1GJB1NM_001097642.2(GJB1): c.407T> C (p.Val136Ala)single nucleotide variantPathogenicrs104894826GRCh37Chr X, 70443964: 70443964
2MPZNM_000530.6(MPZ): c.286A> G (p.Lys96Glu)single nucleotide variantPathogenicrs121913583GRCh37Chr 1, 161276660: 161276660
3MPZNM_000530.6(MPZ): c.270C> A (p.Asp90Glu)single nucleotide variantPathogenicrs121913584GRCh37Chr 1, 161276676: 161276676
4MPZNM_000530.6(MPZ): c.499G> C (p.Gly167Arg)single nucleotide variantPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
5MPZNM_000530.6(MPZ): c.404T> C (p.Ile135Thr)single nucleotide variantPathogenicrs121913587GRCh37Chr 1, 161276542: 161276542
6MPZNM_000530.6(MPZ): c.409G> A (p.Gly137Ser)single nucleotide variantPathogenicrs121913588GRCh37Chr 1, 161276537: 161276537
7MPZNM_000530.6(MPZ): c.293G> C (p.Arg98Pro)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
8MPZNM_000530.6(MPZ): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs121913590GRCh37Chr 1, 161276654: 161276654
9MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
10MPZNM_000530.6(MPZ): c.188C> T (p.Ser63Phe)single nucleotide variantPathogenicrs121913585GRCh37Chr 1, 161277094: 161277094
11MPZNM_000530.6(MPZ): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121913594GRCh37Chr 1, 161276704: 161276704
12MPZNM_000530.6(MPZ): c.371C> T (p.Thr124Met)single nucleotide variantPathogenicrs121913595GRCh37Chr 1, 161276575: 161276575
13MPZNM_000530.6(MPZ): c.308G> A (p.Gly103Glu)single nucleotide variantPathogenicrs121913600GRCh37Chr 1, 161276638: 161276638
14MPZNM_000530.6(MPZ): c.434A> C (p.Tyr145Ser)single nucleotide variantPathogenicrs121913603GRCh37Chr 1, 161276512: 161276512
15MPZNM_000530.6(MPZ): c.367G> A (p.Gly123Ser)single nucleotide variantPathogenicrs121913608GRCh37Chr 1, 161276579: 161276579
16EGR2NM_000399.3(EGR2): c.1075C> T (p.Arg359Trp)single nucleotide variantPathogenicrs104894161GRCh37Chr 10, 64573323: 64573323
17MPZNM_000530.6(MPZ): c.89T> C (p.Ile30Thr)single nucleotide variantPathogenicrs281865121GRCh37Chr 1, 161277193: 161277193
18MPZNM_000530.6(MPZ): c.175T> A (p.Ser59Thr)single nucleotide variantPathogenicrs281865122GRCh37Chr 1, 161277107: 161277107
19MPZNM_000530.6(MPZ): c.241C> T (p.His81Tyr)single nucleotide variantPathogenicrs281865123GRCh37Chr 1, 161276705: 161276705
20MPZNM_000530.6(MPZ): c.244T> C (p.Tyr82His)single nucleotide variantPathogenicrs281865124GRCh37Chr 1, 161276702: 161276702
21MPZNM_000530.6(MPZ): c.266T> C (p.Ile89Thr)single nucleotide variantPathogenicrs267607244GRCh37Chr 1, 161276680: 161276680
22MPZNM_000530.6(MPZ): c.306delA (p.Asp104Thrfs)deletionPathogenicrs281865125GRCh37Chr 1, 161276640: 161276640
23MPZNM_000530.6(MPZ): c.337G> T (p.Val113Phe)single nucleotide variantPathogenicrs281865126GRCh37Chr 1, 161276609: 161276609
24MPZNM_000530.6(MPZ): c.389A> G (p.Lys130Arg)single nucleotide variantPathogenicrs281865127GRCh37Chr 1, 161276557: 161276557
25MPZNM_000530.6(MPZ): c.487G> C (p.Gly163Arg)single nucleotide variantPathogenicrs281865128GRCh37Chr 1, 161276216: 161276216
26MPZNM_000530.6(MPZ): c.588dupT (p.Met197Tyrfs)duplicationPathogenicrs281865129GRCh37Chr 1, 161275954: 161275955
27MPZNM_000530.6(MPZ): c.670G> T (p.Asp224Tyr)single nucleotide variantPathogenicrs267607247GRCh37Chr 1, 161275743: 161275743
28MPZNM_000530.6(MPZ): c.164G> T (p.Ser55Ile)single nucleotide variantPathogenicrs281865133GRCh37Chr 1, 161277118: 161277118
29MPZNM_000530.6(MPZ): c.347A> G (p.Asn116Ser)single nucleotide variantPathogenicrs281865130GRCh37Chr 1, 161276599: 161276599
30MPZNM_000530.6(MPZ): c.645+1G> Tsingle nucleotide variantPathogenicrs281865131GRCh37Chr 1, 161275897: 161275897
31MPZNM_000530.6(MPZ): c.649C> T (p.Pro217Ser)single nucleotide variantPathogenicrs281865132GRCh37Chr 1, 161275764: 161275764
32PRXNM_181882.2(PRX): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs104894706GRCh37Chr 19, 40903673: 40903673
33PRXNM_181882.2(PRX): c.3208C> T (p.Arg1070Ter)single nucleotide variantPathogenicrs104894708GRCh37Chr 19, 40901051: 40901051

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database
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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
19.5MPZ, PMP22

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

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45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone45 29 24 1112.5MPZ, PMP22
2dihydroprogesterone459.4MPZ, PMP22
3ganglioside459.2MPZ, PMP22

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

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16Gene Ontology
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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:0074229.3EGR2, PMP22
2synaptic transmissionGO:0072688.9NEFL, MPZ, PMP22

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

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Sources for Charcot-Marie-Tooth Neuropathy Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet