MCID: CHR537
MIFTS: 33

Charcot-Marie-Tooth Disease, Type 1e malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Muscle diseases, Metabolic diseases categories

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

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 9Disease Ontology, 63Wikipedia, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Charcot-Marie-Tooth Disease, Type 1e 45 10
Charcot-Marie-Tooth Disease Type 1 9 63 11
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 41 60
Charcot-Marie-Tooth Disease and Deafness 45 41
Charcot-Marie-Tooth Disease - Deafness 41 47
Charcot-Marie-Tooth Disease Type 1e 41 47
 
Charcot Marie Tooth Disease Type 1e 41 22
Cmt1e 41 47
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 41
Congenital Hypomyelination 63
Cmt 1e 41


Classifications:



Characteristics (Orphanet epidemiological data):

47

External Ids:

OMIM45 118300
Disease Ontology9 DOID:0050538
Orphanet47 90658
MESH via Orphanet34 C537986, C538078
ICD10 via Orphanet26 G60.0
UMLS via Orphanet61 C1861669, C2931686

Summaries for Charcot-Marie-Tooth Disease, Type 1e

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MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1, is related to neuropathy and charcot-marie-tooth disease, and has symptoms including autosomal dominant inheritance, sensorineural hearing impairment and split hand. An important gene associated with Charcot-Marie-Tooth Disease, Type 1e is CMT1A (Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)).

Description from OMIM:45 118300

Related Diseases for Charcot-Marie-Tooth Disease, Type 1e

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Type 4b2
Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
charcot-marie-tooth disease, type 1e Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type 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 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2k
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.3PMP22
2charcot-marie-tooth disease30.9PMP22
3charcot-marie-tooth disease, type 1a30.6CMT1A, PMP22
4charcot-marie-tooth disease deafness recessive type10.7
5congenital hypomyelination neuropathy10.7
6charcot-marie-tooth disease - deafness - intellectual disability10.6
7neuropathy, congenital hypomyelinating10.6
8charcot-marie-tooth disease x-linked 110.6
9tooth disease10.5
10charcot-marie-tooth disease, type 1d10.4
11charcot-marie-tooth disease, type 1c10.4
12chronic inflammatory demyelinating polyneuropathy10.4
13cauda equina syndrome10.4
14restless legs syndrome10.4
15demyelinating polyneuropathy10.4
16polyneuropathy10.4
17sleep disorder10.4
18hereditary neuropathy with liability to pressure palsy10.4
19hereditary neuropathies10.4
20charcot-marie-tooth neuropathy type 110.2PMP22
21charcot-marie-tooth disease, type 1b10.1
22axonal neuropathy10.0
23lissencephaly10.0
24boylan dew greco syndrome10.0
25neuropathy, inflammatory demyelinating9.9PMP22, CMT1A
26neuropathy, recurrent, with pressure palsies9.9PMP22, CMT1A
27roussy-levy syndrome9.9PMP22, CMT1A
28dejerine-sottas disease9.9PMP22, CMT1A

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



Diseases related to charcot-marie-tooth disease, type 1e

Symptoms for Charcot-Marie-Tooth Disease, Type 1e

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Symptoms by clinical synopsis from OMIM:

118300

Clinical features from OMIM:

118300

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

(show all 17)
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 foot dorsiflexor weakness HP:0009027
17 childhood onset HP:0011463

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease, Type 1e

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

Genetic Tests for Charcot-Marie-Tooth Disease, Type 1e

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

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 1e

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

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Publications for Charcot-Marie-Tooth Disease, Type 1e

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

idTitleAuthorsYear
1
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. (23781966)
2013

Variations for Charcot-Marie-Tooth Disease, Type 1e

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

62
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 1e:

6
id Gene Variation 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 1e

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Charcot-Marie-Tooth Disease, Type 1e

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet