MCID: CHR532
MIFTS: 38

Charcot-Marie-Tooth Disease, Type 2e malady

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 2e

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 60UMLS, 9Disease Ontology, 63Wikipedia, 19GeneReviews, 20GeneTests, 47Orphanet, 22GTR, 43Novoseek, 27ICD9CM, 26ICD10 via Orphanet
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Charcot-Marie-Tooth Disease, Type 2e, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease, Type 2e 45 10
Charcot-Marie-Tooth Disease, Axonal, Type 2e 45 41 60
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 41 47
Charcot-Marie-Tooth Neuropathy Type 2 19 20
Charcot Marie Tooth Disease Type 2e 41 22
Cmt2e 41 47
Hereditary Motor and Sensory-Neuropathy Type Ii 60
Charcot-Marie-Tooth Disease, Axonal Type 19
Hereditary Motorsensory Neuropathy 2 19
 
Charcot-Marie-Tooth Disease Type 2e 41
Charcot-Marie-Tooth Disease, Type 2 63
Charcot-Marie-Tooth Disease Type 2 9
Hmsn Ii 43
Ar-Cmt2 63
Cmt 2e 41
Hmsn2 19
Cmt2 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
autosomal dominant charcot-marie-tooth disease type 2e:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 607684
Disease Ontology9 DOID:0050539
ICD9CM27 356.0
Orphanet47 99939
ICD10 via Orphanet26 G60.0

Summaries for Charcot-Marie-Tooth Disease, Type 2e

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MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2e, also known as charcot-marie-tooth disease, axonal, type 2e, is related to charcot-marie-tooth disease and neuropathy, and has symptoms including autosomal dominant inheritance, ulnar claw and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2e is NEFL (neurofilament, light polypeptide). Related mouse phenotypes are hearing/vestibular/ear and nervous system.

Description from OMIM:45 607684

GeneReviews summary for cmt2

Related Diseases for Charcot-Marie-Tooth Disease, Type 2e

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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 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease30.9TRPV4, NEFL, PMP22
2neuropathy30.2TRPV4, NEFL, PMP22
3tooth disease11.0
4charcot-marie-tooth disease, axonal, type 2010.8
5charcot-marie-toothe disease, axonal, type 2p10.8
6charcot-marie-tooth disease, axonal, type 2f10.8
7charcot-marie-tooth disease, axonal, type 2k10.8
8charcot-marie-tooth disease, axonal, type 2q10.8
9charcot-marie-tooth disease, axonal, type 2g10.8
10charcot-marie-tooth disease, axonal, type 2l10.8
11charcot-marie-tooth disease, axonal, type 2n10.8
12neuromyotonia and axonal neuropathy, autosomal recessive10.7
13charcot-marie-tooth disease, axonal, type 2s10.7
14charcot-marie-tooth disease, type 2i10.7
15charcot-marie-tooth disease, type 2b10.7
16autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.7
17autosomal dominant charcot-marie-tooth disease type 2 with giant axons10.7
18autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation10.7
19charcot-marie-tooth disease, type 2b110.6
20charcot-marie-tooth disease, type 2d10.6
21charcot-marie-tooth disease, type 2b210.6
22charcot-marie-tooth disease type 2f10.6
23charcot-marie-tooth disease type 2g10.6
24charcot-marie-tooth disease type 2k10.6
25charcot-marie-tooth neuropathy, x-linked recessive, 210.6
26restless legs syndrome10.6
27charcot-marie-tooth disease, type 2a210.5
28charcot-marie-tooth disease, type 2r10.5
29charcot-marie-tooth disease type 2a10.5
30charcot-marie-tooth disease type 2h10.5
31autosomal dominant charcot-marie-tooth disease type 2n10.5
32autosomal dominant charcot-marie-tooth disease type 2q10.5
33autosomal dominant charcot-marie-tooth disease type 2o10.5
34autosomal dominant charcot-marie-tooth disease type 2p10.5
35autosomal dominant charcot-marie-tooth disease type 2a210.5
36autosomal dominant charcot-marie-tooth disease type 2a110.5
37autosomal dominant charcot-marie-tooth disease type 2l10.5
38spastic paraplegia 10, autosomal dominant10.4
39charcot-marie-tooth disease, type 2a110.4
40charcot-marie-tooth disease, type 2j10.4
41leukemia10.4
42lymphoblastic leukemia10.4
43charcot-marie-tooth disease, dominant intermediate b10.3
44charcot-marie-tooth neuropathy type 2e/1f10.2
45charcot-marie-tooth disease type 2c10.2
46hereditary motor and sensory neuropathy v10.1
47charcot-marie-tooth neuropathy, x-linked dominant, 110.1
48charcot-marie-tooth disease, type 1b10.0
49malignant glioma9.8NEFL, PMP22
50charcot-marie-tooth neuropathy type 19.8NEFL, PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 2e:



Diseases related to charcot-marie-tooth disease, type 2e

Symptoms for Charcot-Marie-Tooth Disease, Type 2e

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Symptoms by clinical synopsis from OMIM:

607684

Clinical features from OMIM:

607684

HPO human phenotypes related to Charcot-Marie-Tooth Disease, Type 2e:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 ulnar claw HP:0001178
3 hyporeflexia HP:0001265
4 areflexia HP:0001284
5 pes cavus HP:0001761
6 hammertoe HP:0001765
7 distal muscle weakness HP:0002460
8 distal sensory impairment HP:0002936
9 steppage gait HP:0003376
10 decreased motor nerve conduction velocity HP:0003431
11 distal amyotrophy HP:0003693
12 hypotrophy of the small hand muscles HP:0006006
13 foot dorsiflexor weakness HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 2e

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease, Type 2e

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 2e

Genetic Tests for Charcot-Marie-Tooth Disease, Type 2e

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Genetic tests related to Charcot-Marie-Tooth Disease, Type 2e:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 220 TRPV4
2 Charcot-Marie-Tooth Disease Type 2e22
3 Charcot-Marie-Tooth Disease, Type 222

Anatomical Context for Charcot-Marie-Tooth Disease, Type 2e

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Animal Models for Charcot-Marie-Tooth Disease, Type 2e or affiliated genes

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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 2e:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1TRPV4, PMP22
2MP:00036318.2TRPV4, NEFL, PMP22

Publications for Charcot-Marie-Tooth Disease, Type 2e

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Articles related to Charcot-Marie-Tooth Disease, Type 2e:

idTitleAuthorsYear
1
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. (21493625)
2011
2
Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. (21168446)
2011
3
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. (20421365)
2010
4
Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion. (19458545)
2009
5
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. (17052987)
2007
6
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. (15654615)
2005
7
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. (15111691)
2004
8
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (11220745)
2001

Variations for Charcot-Marie-Tooth Disease, Type 2e

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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 2e:

62
id Symbol AA change Variation ID SNP ID
1NEFLp.Gln332ProVAR_009703rs59443585
2NEFLp.Pro8ArgVAR_016020rs60261494
3NEFLp.Pro22SerVAR_016021rs28928910
4NEFLp.Leu336ProVAR_021613
5NEFLp.Glu396LysVAR_021614

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 2e:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NEFLNM_006158.4(NEFL): c.995A> C (p.Gln332Pro)single nucleotide variantPathogenicrs59443585GRCh37Chr 8, 24813035: 24813035
2NEFLNM_006158.4(NEFL): c.64C> T (p.Pro22Ser)single nucleotide variantPathogenicrs28928910GRCh37Chr 8, 24813966: 24813966
3NEFLNM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg)indelPathogenicrs60261494GRCh37Chr 8, 24814007: 24814007
4NEFLNEFL, 13-BP DUP/INS, NT61duplicationPathogenic
5NEFLNM_006158.4(NEFL): c.281T> C (p.Leu94Pro)single nucleotide variantPathogenicrs62636505GRCh37Chr 8, 24813749: 24813749
6PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh37Chr 17, 15142825: 15142826
7NEFLNM_006158.4(NEFL): c.1001A> C (p.Gln334Pro)single nucleotide variantPathogenicrs281865140GRCh37Chr 8, 24813029: 24813029

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 2e

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Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 2e.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 2e

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Compounds for genes affiliated with Charcot-Marie-Tooth Disease, Type 2e

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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease, Type 2e

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Biological processes related to Charcot-Marie-Tooth Disease, Type 2e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:00072689.0NEFL, PMP22
2negative regulation of neuron projection developmentGO:00109778.8TRPV4, PMP22

Products for genes affiliated with Charcot-Marie-Tooth Disease, Type 2e

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Sources for Charcot-Marie-Tooth Disease, Type 2e

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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