CMT1
MCID: CHR022
MIFTS: 40

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

Neuronal category

Summaries for Charcot-Marie-Tooth Disease Type 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 1, also known as autosomal dominant demyelinating charcot-marie-tooth disease, is related to tooth disease and charcot-marie-tooth disease type 4e. An important gene associated with Charcot-Marie-Tooth Disease Type 1 is MPZ (myelin protein zero), and among its related pathways are Neural Crest Differentiation and Signal Transduction. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and normal.

Description from OMIM:47 607678, 607734, 118200, 118300, 601098 118220 more

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

Sources:
8Disease Ontology, 64Wikipedia, 22GTR, 10DISEASES, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
charcot-marie-tooth disease type 1:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

charcot-marie-tooth disease type 1 8 64 22 10 49
autosomal dominant demyelinating charcot-marie-tooth disease 49
hereditary motor and sensory neuropathy type i 61
hereditary motor and sensory neuropathy type 1 49
congenital hypomyelination 64
cmt1 49


External Ids:

Disease Ontology8 DOID:0050538
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

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 4 charcot-marie-tooth disease type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.6PMP22, EGR2, MPZ, GJB1
2charcot-marie-tooth disease type 4e30.7PMP22, EGR2, MPZ
3motor peripheral neuropathy30.6MPZ, PMP22
4sensory peripheral neuropathy30.6PMP22, EGR2, MPZ, LITAF, NTF3, GJB1
5charcot-marie-tooth disease type 1a30.6CMT1A, PMP22
6charcot-marie-tooth neuropathy type 130.5LITAF, NEFL, MPZ, EGR2, PMP22
7congenital hypomyelination neuropathy10.6
8n syndrome10.6
9autosomal dominant disease10.5
10charcot-marie-tooth hereditary neuropathy10.5
11autosomal genetic disease10.5
12lambert-eaton myasthenic syndrome10.4
13autonomic neuropathy10.4
14aplasia cutis congenita10.4
15lambert syndrome10.4
16sleep disorder10.4
17char syndrome10.4
18charcot-marie-tooth disease type 1c10.4
19charcot-marie-tooth disease type 1d10.4
20charcot-marie-tooth neuropathy, x-linked dominant, 110.4
21charcot-marie-tooth disease, dominant intermediate b10.2
22neuropathy, congenital hypomyelinating, 110.2
23charcot-marie-tooth disease type 1b10.2
24axonal neuropathy10.0
25lissencephaly10.0
26hirschsprung's disease10.0
27boylan dew greco syndrome10.0
28charcot-marie-tooth neuropathy type 4e10.0
29hypomyelination neuropathy - arthrogryposis10.0
30amyloid neuropathy10.0
31charcot-marie-tooth disease type 2c10.0
32hereditary neuropathy with liability to pressure palsies10.0PMP22
33wallerian degeneration10.0MPZ
34polyradiculoneuropathy10.0PMP22
35pelizaeus-merzbacher disease10.0MPZ
36charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22
37charcot-marie-tooth disease10.0PMP22, MPZ
38charcot-marie-tooth neuropathy type 210.0MPZ, NEFL
39neuropathy, recurrent, with pressure palsies10.0CMT1A, PMP22
40chronic inflammatory demyelinating polyradiculoneuropathy10.0PMP22, MPZ
41charcot-marie-tooth disease type 1e10.0CMT1A, PMP22
42brachial plexus neuropathy10.0MPZ, PMP22
43hereditary neuropathies10.0PMP22, MPZ, GJB1
44sensorineural hearing loss10.0GJB1, PMP22
45diabetic neuropathy10.0NTF3, MPZ, PMP22
46charcot-marie-tooth disease type 310.0PMP22, EGR2, MPZ, GJB1
47neurilemmoma10.0NTF3, MPZ, PMP22
48polyneuropathy10.0PMP22, EGR2, MPZ, GJB1
49multiple sclerosis10.0NEFL, MPZ
50schizophrenia10.0ERBB3, NTF3, NEFL

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



Diseases related to charcot-marie-tooth disease type 1

Clinical Features for Charcot-Marie-Tooth Disease Type 1

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607678,607734,118200,118300,601098,118220

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1

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

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1

Genetic Tests for Charcot-Marie-Tooth Disease Type 1

Sources:
22GTR
See all sources

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

id Genetic test Affiliating Genes
1 Charcot-marie-tooth Disease, Type I22

Anatomical Context for Charcot-Marie-Tooth Disease Type 1

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.0ERBB2, NAB1, NTF3, MPZ, EGR2, PMP22
2MP:00028737.4EGR2, NEFL, NTF3, NAB1, ERBB3, ERBB2
3MP:00053767.3EGR2, MPZ, LITAF, NTF3, MYH6, DARC
4MP:00053866.9PMP22, EGR2, MPZ, NTF3, MYH6, NAB1
5MP:00107686.7PMP22, EGR2, MPZ, NTF3, MYH6, NAB1
6MP:00036316.7ERBB2, PMP22, EGR2, MPZ, NEFL, LITAF

Publications for Charcot-Marie-Tooth Disease Type 1

Sources:
51PubMed
See all sources

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

(show all 16)
idTitleAuthorsYear
1
136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands. (16684603)
2006
2
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. (14985381)
2004
3
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. (15021985)
2004
4
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. (14502374)
2003
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
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders. (12082504)
2002
7
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A. (10780790)
2000
8
Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication. (10586283)
1999
9
Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication. (10451742)
1999
10
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. (9005872)
1997
11
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. (9183252)
1997
12
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. (7891814)
1995
13
Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A. (8329893)
1993
14
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. (1453432)
1992
15
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. (1674726)
1991
16
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. (1721895)
1991

Genetic Variations for Charcot-Marie-Tooth Disease Type 1

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 1

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

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

Sources:
38NCBI BioSystems Database, 54Reactome, 60Tocris Bioscience
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PMP22, MPZ, GJB1
2
Hide members
9.5ERBB2, ERBB3
3
Hide members
9.5ERBB2, ERBB3
4
Hide members
9.5ERBB2, ERBB3
59.5ERBB2, ERBB3
69.2ERBB2, ERBB3, PMP22

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

Sources:
45Novoseek, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

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

(show all 22)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4510.1PMP22, MPZ
2ganglioside459.9PMP22, MPZ, NTF3
3jnj 28871063 hydrochloride609.8ERBB3, ERBB2
4ag 490609.8ERBB3, ERBB2
5ag 1478 hydrochloride609.8ERBB3, ERBB2
6iressa609.8ERBB3, ERBB2
7pertuzumab45 50 1111.8ERBB2, ERBB3
8o-tyrosine459.8ERBB3, ERBB2
9hrgbeta1459.8ERBB2, ERBB3
10lapatinib45 50 1111.5ERBB2, ERBB3
11forskolin45 50 1111.3PMP22, NTF3, GJB1, ERBB3
12carbachol45 29 1111.2ERBB2, ERBB3, NTF3
13aspartate459.1ERBB2, NTF3, MPZ, PMP22
14glutamate458.9MPZ, NEFL, NTF3, GJB1, ERBB2
15steroid458.9ERBB2, ERBB3, NTF3, MPZ, PMP22
16arginine458.7PMP22, MPZ, NTF3, MYH6, GJB1, ERBB2
17progesterone45 60 29 11 2412.7ERBB2, ERBB3, GJB1, NTF3, MPZ, PMP22
18retinoic acid45 249.6PMP22, NEFL, NTF3, MYH6, GJB1
19estrogen458.5NTF3, MYH6, GJB1, ERBB3, ERBB2
20lipid458.4MPZ, LITAF, MYH6, EMP2, DARC, ERBB3
21tyrosine458.3EGR2, MPZ, NTF3, DARC, GJB1, ERBB3
22serine458.2PMP22, MPZ, MYH6, GJB1, ERBB3, ERBB2

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

Sources:
16Gene Ontology
See all sources

Cellular components related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.5ERBB2, ERBB3

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase cascadeGO:0140659.5ERBB2, ERBB3
2motor neuron axon guidanceGO:0080459.4ERBB2, EGR2
3transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.0ERBB2, ERBB3, NTF3
4Schwann cell differentiationGO:0140378.9EGR2, NAB1, ERBB3
5peripheral nervous system developmentGO:0074228.7ERBB2, ERBB3, NTF3, EGR2, PMP22
6myelinationGO:0425528.6EGR2, NTF3, NAB1, ERBB2

Molecular functions related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.5ERBB2, ERBB3
2transmembrane signaling receptor activityGO:0048888.9ERBB2, ERBB3, DARC

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet