MCID: CHR113
MIFTS: 30

Charcot-Marie-Tooth Neuropathy Type 1 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

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 tooth disease. 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 21 22
Hereditary Motorsensory Neuropathy 1 21
Charcot-Marie-Tooth Disease, Type Ib 62
 
Hmsn1 21
Cmt1 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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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 4
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
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 4b2
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 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2o Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 4f

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.3PMP22, MPZ, LITAF, NEFL, EGR2
2tooth disease30.0PMP22, MPZ, EGR2
3charcot-marie-tooth disease29.9EGR2, PMP22, MPZ, LITAF, NEFL
4dystonia10.5
5dystonia 110.5
6charcot-marie-tooth disease, dominant intermediate b10.3
7charcot-marie-tooth disease, type 1b10.2
8neuronitis10.0
9charcot-marie-tooth disease type 2c10.0
10charcot-marie-tooth neuropathy type 410.0EGR2
11pelizaeus-merzbacher disease10.0MPZ
12neuropathy, recurrent, with pressure palsies10.0PMP22
13neuropathy, congenital hypomyelinating10.0EGR2, MPZ
14neuropathy, inflammatory demyelinating10.0PMP22, CMT1A
15polyradiculoneuropathy10.0PMP22
16charcot-marie-tooth disease, type 1e10.0PMP22, CMT1A
17charcot-marie-tooth disease, type 1a10.0CMT1A, PMP22
18roussy-levy syndrome10.0MPZ, PMP22
19motor peripheral neuropathy10.0MPZ, PMP22
20chronic inflammatory demyelinating polyradiculoneuropathy10.0PMP22, MPZ
21brachial plexus neuropathy10.0MPZ, PMP22
22hereditary neuropathies10.0PMP22, MPZ
23guillain-barre syndrome10.0MPZ, PMP22
24diabetic neuropathy10.0PMP22, MPZ
25neurilemmoma10.0MPZ, PMP22
26dejerine-sottas disease10.0PMP22, MPZ, EGR2
27polyneuropathy10.0EGR2, MPZ, PMP22
28charcot-marie-tooth disease, type 2e10.0NEFL, MPZ
29neuritis10.0PMP22, MPZ
30sensory peripheral neuropathy10.0PMP22, MPZ, LITAF, EGR2
31myopathy9.9PMP22, 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 122 PMP22
2 Charcot-Marie-Tooth Neuropathy Type 1e22 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:

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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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:

7 (show all 28)
id Gene Variation 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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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:
45Novoseek, 30IUPHAR, 26HMDB, 13DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1dihydrotestosterone45 30 26 1312.6MPZ, PMP22
2dihydroprogesterone459.5MPZ, PMP22
3ganglioside459.3MPZ, 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:00074229.2EGR2, PMP22
2synaptic transmissionGO:00072689.0NEFL, MPZ, PMP22

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

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  • Antibodies
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  • Lysates
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  • Kits and Assays

Sources for Charcot-Marie-Tooth Neuropathy Type 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet