CMT1
MCID: CHR022
MIFTS: 45

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

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Disease Type 1

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46OMIM, 32MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 1, also known as autosomal dominant demyelinating charcot-marie-tooth disease, is related to charcot-marie-tooth disease and tooth disease. 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:46 607678, 607734, 118200, 118300, 601098 118220 more

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

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Sources:
8Disease Ontology, 63Wikipedia, 22GTR, 10DISEASES, 48Orphanet, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 22 10 48
autosomal dominant demyelinating charcot-marie-tooth disease 48
hereditary motor and sensory neuropathy type 1 48
hereditary motor and sensory neuropathy type i 60
congenital hypomyelination 63
cmt1 48


External Ids:

Disease Ontology8 DOID:0050538
SNOMED-CT via Orphanet57 398040009
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 1

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Sources:
17GeneCards, 18GeneDecks
See all sources

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 Disease Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.6PMP22, MPZ
2tooth disease31.6PMP22, EGR2, MPZ, GJB1
3charcot-marie-tooth neuropathy type 130.7LITAF, NEFL, MPZ, EGR2, PMP22
4neuropathy30.7MPZ, EGR2, PMP22, NEFL, LITAF, NTF3
5charcot-marie-tooth disease type 4e30.7PMP22, EGR2, MPZ
6motor peripheral neuropathy30.6MPZ, PMP22
7sensory peripheral neuropathy30.5PMP22, EGR2, MPZ, LITAF, NTF3, GJB1
8hereditary neuropathy with liability to pressure palsies30.5PMP22
9charcot-marie-tooth disease type 1a30.5CMT1A, PMP22
10charcot-marie-tooth disease type 210.5
11autosomal dominant disease10.5
12charcot-marie-tooth hereditary neuropathy10.5
13autosomal genetic disease10.5
14lambert-eaton myasthenic syndrome10.4
15autonomic neuropathy10.4
16restless legs syndrome10.4
17charcot-marie-tooth disease type x10.4
18chromosomal disease10.4
19hereditary sensory neuropathy10.4
20sleep disorder10.4
21x-linked disease10.4
22charcot-marie-tooth disease type 1c10.4
23charcot-marie-tooth disease type 1d10.4
24charcot-marie-tooth neuropathy, x-linked dominant, 110.4
25charcot-marie-tooth disease, dominant intermediate b10.2
26congenital hypomyelination neuropathy10.2
27neuropathy, congenital hypomyelinating, 110.2
28charcot-marie-tooth disease type 1b10.1
29axonal neuropathy10.0
30lissencephaly10.0
31peripheral neuropathy10.0
32boylan dew greco syndrome10.0
33charcot-marie-tooth neuropathy type 4e10.0
34wallerian degeneration10.0MPZ
35polyradiculoneuropathy10.0PMP22
36pelizaeus-merzbacher disease10.0MPZ
37charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22
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
50neuronitis10.0

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

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Sources:
46OMIM
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Clinical features from OMIM:

607678,607734,118200,118300,601098,118220

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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22GTR
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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

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

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

36
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

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

(show all 38)
idTitleAuthorsYear
1
Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations. (23757421)
2013
2
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (23749797)
2013
3
Sleep disorders in Charcot-Marie-Tooth disease type 1. (23704315)
2013
4
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. (19918771)
2010
5
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. (20739940)
2010
6
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. (18758688)
2008
7
Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (18579801)
2008
8
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. (18347322)
2008
9
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. (17100997)
2006
10
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (16912585)
2006
11
Charcot-Marie-Tooth Disease type 1 and pediatric true vocal fold paralysis. (16084600)
2006
12
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (15050444)
2004
13
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. (12736090)
2003
14
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. (11743580)
2002
15
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
16
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (11239949)
2001
17
Disability and quality of life in Charcot-Marie-Tooth disease type 1. (11254787)
2001
18
The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies]. (10743001)
2000
19
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. (10632107)
2000
20
A new de novo mutation of the connexin-32 gene in a patient with X- linked Charcot-Marie-Tooth type 1 disease. (10938190)
2000
21
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. (10648431)
2000
22
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. (10502832)
1999
23
Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration. (10210889)
1998
24
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). (9452099)
1998
25
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. (9856562)
1998
26
Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1. (9386787)
1997
27
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. (8664899)
1996
28
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
29
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. (8659534)
1996
30
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
31
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. (7891814)
1995
32
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. (8012365)
1994
33
Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. (7991130)
1994
34
Pregnancy and delivery in Charcot-Marie-Tooth disease type 1. (8413959)
1993
35
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
36
Charcot-Marie-Tooth disease type 1. (1552540)
1992
37
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. (1549221)
1992
38
The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1. (2892777)
1988

Genetic Variations for Charcot-Marie-Tooth Disease Type 1

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 53Reactome, 59Tocris Bioscience
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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

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Sources:
44Novoseek, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Charcot-Marie-Tooth Disease Type 1 according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4410.1PMP22, MPZ
2ganglioside449.9PMP22, MPZ, NTF3
3jnj 28871063 hydrochloride599.8ERBB3, ERBB2
4ag 490599.8ERBB3, ERBB2
5ag 1478 hydrochloride599.8ERBB3, ERBB2
6iressa599.8ERBB3, ERBB2
7pertuzumab44 49 1111.8ERBB2, ERBB3
8o-tyrosine449.8ERBB3, ERBB2
9hrgbeta1449.8ERBB2, ERBB3
10lapatinib44 49 1111.5ERBB2, ERBB3
11forskolin44 49 1111.3PMP22, NTF3, GJB1, ERBB3
12carbachol44 28 1111.2ERBB2, ERBB3, NTF3
13aspartate449.1ERBB2, NTF3, MPZ, PMP22
14glutamate448.9MPZ, NEFL, NTF3, GJB1, ERBB2
15steroid448.9ERBB2, ERBB3, NTF3, MPZ, PMP22
16arginine448.7PMP22, MPZ, NTF3, MYH6, GJB1, ERBB2
17progesterone44 59 28 11 2412.7ERBB2, ERBB3, GJB1, NTF3, MPZ, PMP22
18retinoic acid44 249.6PMP22, NEFL, NTF3, MYH6, GJB1
19estrogen448.5NTF3, MYH6, GJB1, ERBB3, ERBB2
20lipid448.4MPZ, LITAF, MYH6, EMP2, DARC, ERBB3
21tyrosine448.3EGR2, MPZ, NTF3, DARC, GJB1, ERBB3
22serine448.2PMP22, MPZ, MYH6, GJB1, ERBB3, ERBB2

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

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16Gene Ontology
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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

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease 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