CMT1
MCID: CHR113
MIFTS: 29

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

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Neuropathy Type 1

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19GeneReviews, 32MalaCards
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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 ganglioside and dihydroprogesterone have been mentioned in the context of this disorder. Related mouse phenotype nervous system.

GeneReviews summary for cmt1

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

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60UMLS, 19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

charcot-marie-tooth neuropathy type 1 19 20
hereditary motor and sensory neuropathies 60
charcot-marie-tooth disease, type ib 60
hereditary motorsensory neuropathy 1 19
dejerine-sottas disease 60
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 Type 3 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 4 Charcot-Marie-Tooth Disease
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 top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.3PMP22, EGR2, MPZ, NEFL, LITAF, GJB1
2charcot-marie-tooth disease30.9PMP22, MPZ
3charcot-marie-tooth disease type 330.9GJB1, MPZ, EGR2, PMP22
4motor peripheral neuropathy30.8PMP22, MPZ
5tooth disease30.8EGR2, MPZ, GJB1, PMP22
6hereditary neuropathy with liability to pressure palsies30.6PMP22
7charcot-marie-tooth disease type 1a30.6PMP22, CMT1A
8hereditary neuropathies30.6MPZ, GJB1, PMP22
9neuropathy, recurrent, with pressure palsies30.4PMP22, CMT1A
10charcot-marie-tooth disease type 1e30.4CMT1A, PMP22
11charcot-marie-tooth neuropathy type 230.4MPZ, NEFL
12charcot-marie-tooth disease type 4e30.4MPZ, PMP22, EGR2
13demyelinating polyneuropathy30.4EGR2
14sensorineural hearing loss30.4PMP22, GJB1
15sensory peripheral neuropathy30.3GJB1, MPZ, EGR2, PMP22, LITAF
16polyneuropathy30.3MPZ, GJB1, EGR2, PMP22
17hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
18hereditary motor and sensory neuropathy vi10.7
19optic atrophy10.7
20charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
21neuropathy, hereditary motor and sensory, okinawa type10.6
22hereditary sensory neuropathy10.6
23neuropathy, hereditary motor and sensory, russe type10.6
24neuropathy, hereditary motor and sensory, lom type10.5
25charcot-marie-tooth neuropathy type 1b10.4
26axonal neuropathy10.4
27refsum disease10.4
28juvenile glaucoma10.4
29glaucoma10.4
30charcot-marie-tooth neuropathy type 4a10.4
31charcot-marie-tooth disease type 1d10.4
32charcot-marie-tooth disease type 2b10.4
33charcot-marie-tooth disease type 2b110.4
34charcot-marie-tooth disease type 2b210.4
35charcot-marie-tooth disease type 2h10.4
36charcot-marie-tooth disease type 4b210.4
37cowchock syndrome10.4
38charcot-marie-tooth neuropathy type 2c10.4
39charcot-marie-tooth disease, type 2a110.4
40charcot-marie-tooth disease, type 2a210.4
41charcot-marie-tooth disease - deafness - intellectual deficit10.4
42charcot-marie-tooth hereditary neuropathy10.4
43dejerine-sottas disease, autosomal recessive10.4
44familial dystonia10.4
45lambert-eaton myasthenic syndrome10.3
46superior mesenteric artery syndrome10.3
47cochlear disease10.3
48autonomic neuropathy10.3
49chromosomal disease10.3
50chronic polyneuropathy10.3

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 1:



Diseases related to charcot-marie-tooth neuropathy type 1

Clinical Features for Charcot-Marie-Tooth Neuropathy Type 1

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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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36MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7GJB1, LITAF, NEFL, MPZ, EGR2, PMP22

Publications for Charcot-Marie-Tooth Neuropathy Type 1

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50PubMed
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Articles related to Charcot-Marie-Tooth Neuropathy Type 1:

(show all 20)
idTitleAuthorsYear
1
Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients. (22243284)
2011
2
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. (21412843)
2011
3
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. (19321466)
2009
4
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1. (16922730)
2006
5
Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. (12154515)
2002
6
The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies]. (10743001)
2000
7
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. (10093067)
1998
8
Major histocompatibility complex class II expression and macrophage responses in genetically proven Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies. (9771665)
1998
9
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie- Tooth neuropathy type 1: identification of five new mutations. (8990008)
1997
10
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. (9043865)
1996
11
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. (8659534)
1996
12
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. (8800924)
1996
13
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. (7688964)
1993
14
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? (8011481)
1993
15
Charcot-Marie-Tooth Neuropathy X Type 1 (20301548)
1993
16
Charcot-Marie-Tooth Neuropathy Type 1 (20301384)
1993
17
Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). (1596093)
1992
18
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
19
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. (2220808)
1990
20
Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. (3163969)
1988

Genetic Variations for Charcot-Marie-Tooth Neuropathy Type 1

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

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1BioGPS, 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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37NCBI 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
19.2GJB1, MPZ, PMP22

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

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44Novoseek
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside449.7MPZ, PMP22
2dihydroprogesterone449.4MPZ, 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:0074229.5EGR2, PMP22
2synaptic transmissionGO:0072689.3NEFL, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet