MCID: CHR022
MIFTS: 60

Charcot-Marie-Tooth Disease Type 1 malady

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

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MalaCards based summary: Charcot-Marie-Tooth Disease Type 1, also known as charcot-marie-tooth disease and deafness, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including An important gene associated with Charcot-Marie-Tooth Disease Type 1 is CMT1A (Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)), and among its related pathways are Neural Crest Differentiation and Alzheimers Disease Pathway. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and reproductive system.

Descriptions from OMIM:46 607678, 118300, 601098, 118220, 607734 118200 more

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

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Charcot-Marie-Tooth Disease Type 1, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease Type 1 8 65 10
Charcot-Marie-Tooth Disease and Deafness 42 62
Charcot-Marie-Tooth Disease, Type 1e 9 46
Charcot-Marie-Tooth Disease Type 1e 42 48
Charcot Marie Tooth Disease Type 1e 42 22
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 42
 
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 42
Charcot-Marie-Tooth Disease - Deafness 48
Congenital Hypomyelination 65
Cmt 1e 42
Cmt1e 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
charcot-marie-tooth disease type 1e:
Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:0050538
MESH via Orphanet35 C537986, C538078
ICD10 via Orphanet26 G60.0
UMLS via Orphanet63 C1861669, C2931686

Related Diseases for Charcot-Marie-Tooth Disease Type 1

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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 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 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 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 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 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 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 53)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.3PMP22, MPZ
2tooth disease31.9PMP22, MPZ, GJB1, EGR2
3hereditary neuropathy with liability to pressure palsies31.4PMP22
4charcot-marie-tooth disease type 431.3EGR2, PMP22, MPZ
5charcot-marie-tooth disease type 1a31.2CMT1A, PMP22
6chronic inflammatory demyelinating polyneuropathy31.2MPZ, PMP22
7hereditary neuropathies31.0PMP22, MPZ, GJB1
8polyneuropathy30.9EGR2, GJB1, MPZ, PMP22
9neuropathy30.2LITAF, EGR2, GJB1, MPZ, NEFL, NTF3
10congenital hypomyelination neuropathy10.7
11charcot-marie-tooth disease deafness recessive type10.6
12charcot-marie-tooth disease - deafness - intellectual disability10.6
13pelizaeus-merzbacher disease10.5MPZ
14hypertrophic neuropathy of dejerine-sottas10.5NAB1
15charcot-marie-tooth neuropathy type 410.5EGR2
16wallerian degeneration10.5MPZ
17polyradiculoneuropathy10.4PMP22
18restless legs syndrome10.4
19cauda equina syndrome10.4
20demyelinating polyneuropathy10.4
21sleep disorder10.4
22charcot-marie-tooth disease type 1c10.4
23charcot-marie-tooth disease type 1d10.4
24hereditary neuropathy with liability to pressure palsy10.4
25charcot-marie-tooth neuropathy, x-linked dominant, 110.4
26neuropathy, inflammatory demyelinating10.4PMP22, CMT1A
27charcot-marie-tooth neuropathy type 1a10.4MPZ, PMP22
28neuropathy, recurrent, with pressure palsies10.4CMT1A, PMP22
29charcot-marie-tooth neuropathy type 210.4NEFL, MPZ
30brachial plexus neuropathy10.4PMP22, MPZ
31guillain-barre syndrome10.3PMP22, MPZ
32neuritis10.3MPZ, PMP22
33sensorineural hearing loss10.2PMP22, GJB1
34boylan dew greco syndrome10.2
35neuropathy, congenital hypomyelinating, 110.2
36inherited peripheral neuropathy10.2PMP22, EGR2, GJB1, MPZ
37charcot-marie-tooth disease type 310.2MPZ, PMP22, EGR2, GJB1
38diabetic neuropathy10.1NTF3, MPZ, PMP22
39demyelinating disease10.1MPZ, NTF3
40neurilemmoma10.1PMP22, MPZ, NTF3
41charcot-marie-tooth disease type 1b10.1
42axonal neuropathy10.1
43lissencephaly10.1
44charcot-marie-tooth neuropathy type 110.0NEFL, EGR2, PMP22, MPZ, LITAF
45salivary gland adenoid cystic carcinoma9.8ERBB2, ERBB3
46endometrial carcinoma9.8GJB1, ERBB2, ERBB3
47lung adenocarcinoma9.8GJB1, ERBB2, ERBB3
48myopathy9.8MYH6, PMP22, MPZ, NEFL, GJB1, EGR2
49sensory peripheral neuropathy9.7LITAF, GJB1, EGR2, NTF3, PMP22, MPZ
50medulloblastoma9.7ERBB3, NTF3, ERBB2

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



Diseases related to charcot-marie-tooth disease type 1

Symptoms for Charcot-Marie-Tooth Disease Type 1

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Symptoms by clinical synopsis from OMIM:

118300

Clinical features from OMIM:

607678,118300,601098,118220,607734,118200

HPO human phenotypes related to Charcot-Marie-Tooth Disease Type 1:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sensorineural hearing impairment HP:0000407
3 split hand HP:0001171
4 hyporeflexia HP:0001265
5 areflexia HP:0001284
6 pes cavus HP:0001761
7 hammertoe HP:0001765
8 talipes calcaneovalgus HP:0001884
9 distal muscle weakness HP:0002460
10 distal sensory impairment HP:0002936
11 steppage gait HP:0003376
12 decreased motor nerve conduction velocity HP:0003431
13 juvenile onset HP:0003621
14 limb muscle weakness HP:0003690
15 distal amyotrophy HP:0003693
16 distal amyotrophy HP:0003693
17 foot dorsiflexor weakness HP:0009027
18 childhood onset HP:0011463

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 1

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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 Ie22
2 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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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2ERBB3, ERBB2, NTF3, MYH6, PMP22
2MP:00053897.8PMP22, MPZ, NAB1, NTF3, ERBB2, EGR2
3MP:00053887.7NAB1, NTF3, ERBB2, ERBB3, EGR2
4MP:00028737.5NAB1, NEFL, NTF3, ERBB2, ERBB3, EGR2
5MP:00053847.3PMP22, MPZ, NAB1, LITAF, ERBB2, ERBB3
6MP:00053767.1DARC, MPZ, MYH6, LITAF, NTF3, GJB1
7MP:00053786.9PMP22, NAB1, NTF3, GJB1, ERBB2, ERBB3
8MP:00053866.7PMP22, MPZ, NAB1, MYH6, NTF3, GJB1
9MP:00107686.7PMP22, MPZ, NAB1, MYH6, NTF3, GJB1
10MP:00036316.5EGR2, PMP22, MPZ, NAB1, LITAF, NEFL

Publications for Charcot-Marie-Tooth Disease Type 1

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

(show all 26)
idTitleAuthorsYear
1
A case of cauda equina syndrome in early-onset chronic inflammatory demyelinating polyneuropathy clinically similar to charcot-marie-tooth disease type 1. (25237436)
2014
2
Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations. (23757421)
2013
3
Sleep disorders in Charcot-Marie-Tooth disease type 1. (23704315)
2013
4
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. (20739940)
2010
5
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. (18758688)
2008
6
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. (17100997)
2006
7
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (16912585)
2006
8
Charcot-Marie-Tooth Disease type 1 and pediatric true vocal fold paralysis. (16084600)
2006
9
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (15050444)
2004
10
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. (12736090)
2003
11
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (11239949)
2001
12
Disability and quality of life in Charcot-Marie-Tooth disease type 1. (11254787)
2001
13
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. (10632107)
2000
14
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. (10648431)
2000
15
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
16
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). (9452099)
1998
17
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. (9856562)
1998
18
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
19
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
20
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. (7891814)
1995
21
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. (8012365)
1994
22
Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. (7991130)
1994
23
Pregnancy and delivery in Charcot-Marie-Tooth disease type 1. (8413959)
1993
24
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
25
Charcot-Marie-Tooth disease type 1. (1552540)
1992
26
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

Variations for Charcot-Marie-Tooth Disease Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 1:

64
id Symbol AA change Variation ID SNP ID
1PMP22p.Ala67ProVAR_009661
2PMP22p.Thr23ArgVAR_029961
3PMP22p.Trp28ArgVAR_029963

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease Type 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1PMP22NM_000304.3(PMP22): c.199G> C (p.Ala67Pro)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
2PMP22NM_000304.3(PMP22): c.82T> C (p.Trp28Arg)single nucleotide variantPathogenicrs104894626GRCh37Chr 17, 15162507: 15162507
3PMP22PMP22, 12-BP DELdeletionPathogenic

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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GJB1, MPZ, PMP22
29.3ERBB3, ERBB2
3
Show member pathways
9.3ERBB3, ERBB2
49.1ERBB3, ERBB2, PMP22
5
Show member pathways
8.9ERBB3, ERBB2, MYH6
6
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.9NTF3, ERBB2, ERBB3

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

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

(show all 29)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4410.2MPZ, PMP22
2ganglioside449.8NTF3, MPZ, PMP22
3jnj 28871063 hydrochloride619.7ERBB2, ERBB3
4ag 490619.7ERBB2, ERBB3
5iressa619.7ERBB3, ERBB2
6ag 1478 hydrochloride619.7ERBB3, ERBB2
7pertuzumab44 50 1111.7ERBB3, ERBB2
8o-tyrosine449.7ERBB3, ERBB2
9hrgbeta1449.6ERBB3, ERBB2
10lapatinib44 50 1111.5ERBB3, ERBB2
11gaba449.5GJB1, NTF3, PMP22
12polyacrylamide449.4NTF3, NEFL, MYH6
13forskolin44 50 1111.2PMP22, GJB1, ERBB3, NTF3
14cetuximab44 50 1111.2ERBB2, ERBB3
15carbachol44 28 1111.1NTF3, ERBB2, ERBB3
16aspartate449.1MPZ, PMP22, ERBB2, NTF3
17chloramphenicol44 2 50 1112.1MYH6, ERBB2, NTF3
18erlotinib44 50 1111.0ERBB2, ERBB3
19agar449.0ERBB2, NTF3, ERBB3
20retinoic acid44 2410.0PMP22, GJB1, NEFL, NTF3, MYH6
21acetylcholine44 50 28 24 1112.9NTF3, ERBB2, ERBB3
22glutamate448.8MPZ, NEFL, ERBB2, GJB1, NTF3
23steroid448.7PMP22, MPZ, NTF3, ERBB2, ERBB3
24arginine448.5GJB1, NTF3, MYH6, MPZ, PMP22, ERBB2
25progesterone44 28 61 24 1112.4ERBB2, GJB1, NTF3, MPZ, PMP22, ERBB3
26estrogen448.4ERBB2, MYH6, GJB1, NTF3, ERBB3
27lipid448.4LITAF, DARC, MPZ, EMP2, MYH6, ERBB3
28serine448.4MPZ, PMP22, ERBB3, ERBB2, MYH6, GJB1
29tyrosine448.1NTF3, GJB1, ERBB2, ERBB3, EGR2, DARC

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

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

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163248.8ERBB3, ERBB2, EMP2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1motor neuron axon guidanceGO:0080459.5ERBB2, EGR2
2nervous system developmentGO:0073999.1ERBB2, GJB1, NTF3
3phosphatidylinositol 3-kinase signalingGO:0140659.0ERBB3, ERBB2
4Schwann cell differentiationGO:0140378.9NAB1, ERBB3, EGR2
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071698.9ERBB3, ERBB2, NTF3
6peripheral nervous system developmentGO:0074228.5EGR2, ERBB3, ERBB2, NTF3, PMP22
7myelinationGO:0425528.4NAB1, NTF3, ERBB2, EGR2

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.3ERBB3, ERBB2
2transmembrane signaling receptor activityGO:0048888.7ERBB3, ERBB2, DARC

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

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet