MCID: CHR532
MIFTS: 48

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:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 68Wikipedia, 21GeneReviews, 22GeneTests, 24GTR, 65UMLS, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 29ICD9CM, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Charcot-Marie-Tooth Disease, Type 2e 49 11
Cmt2 21 45 22
Hereditary Motor and Sensory Neuropathy Type 2 45 22
Charcot-Marie-Tooth Disease, Axonal, Type 2e 45 65
Charcot-Marie-Tooth Disease, Axonal Type 21 22
Charcot-Marie-Tooth Neuropathy Type 2 21 22
Charcot Marie Tooth Disease Type 2e 45 24
Charcot-Marie-Tooth Disease Type 2 10 45
Cmt 2e 45 22
Cmt2e 51 67
Hmsn2 21 22
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2 22
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 51
 
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 45
Hereditary Motor and Sensory-Neuropathy Type Ii 65
Charcot-Marie-Tooth Disease Neuronal Type 2e 67
Charcot-Marie-Tooth Disease, Neuronal Type 22
Charcot-Marie-Tooth Disease Axonal Type 2e 67
Charcot-Marie-Tooth Neuropathy Type 2e 67
Hereditary Motorsensory Neuropathy 2 21
Charcot-Marie-Tooth Disease, Type 2 68
Charcot-Marie-Tooth Disease Type 2e 45
Charcot-Marie-Tooth Disease 2e 67
Charcot-Marie-Tooth Type 2 45
Hmsn Ii 47
Ar-Cmt2 68


Classifications:



Characteristics (Orphanet epidemiological data):

51
cmt2e:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM49 607684
Disease Ontology10 DOID:0050539
ICD9CM29 356.0
Orphanet51 99939
ICD10 via Orphanet28 G60.0
MedGen34 C1843225
MeSH36 D002607

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

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UniProtKB/Swiss-Prot:67 Charcot-Marie-Tooth disease 2E: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2e, also known as cmt2, is related to charcot-marie-tooth neuropathy type 2e/1f and charcot-marie-tooth disease type 2c, and has symptoms including high palate, ptosis and motor delay. An important gene associated with Charcot-Marie-Tooth Disease, Type 2e is NEFL (Neurofilament, Light Polypeptide), and among its related pathways is Neural Crest Differentiation. Related mouse phenotypes are muscle and nervous system.

Description from OMIM:49 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, 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 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 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d charcot-marie-tooth disease, type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d 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, 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, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Autosomal Dominant Intermediate Charcot-Marie-Tooth
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 Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2p
Charcot-Marie-Tooth Disease Type 2q 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 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

Diseases related to Charcot-Marie-Tooth Disease, Type 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth neuropathy type 2e/1f30.7KIF1B, MFN2
2charcot-marie-tooth disease type 2c30.4KIF1B, MFN2
3charcot-marie-tooth disease, type 2d30.3BSCL2, GARS
4charcot-marie-tooth disease, type 1b28.4AARS, DNAJB2, GDAP1, GJB1, HSPB8, IGHMBP2
5charcot-marie-tooth neuropathy type 128.1AARS, DNAJB2, GDAP1, GJB1, HSPB8, IGHMBP2
6charcot-marie-tooth disease11.0
7tooth disease11.0
8charcot-marie-tooth disease, axonal, type 2g10.8
9neuromyotonia and axonal neuropathy, autosomal recessive10.8
10autosomal dominant charcot-marie-tooth disease type 2 with giant axons10.7
11x-linked charcot-marie-tooth disease type 210.7
12charcot-marie-tooth disease, axonal, type 2w10.7
13charcot-marie-tooth disease, axonal, type 2h10.7
14autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.7
15autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation10.7
16autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation10.7
17charcot-marie-tooth disease type 2f10.6
18charcot-marie-tooth disease type 2g10.6
19charcot-marie-tooth disease type 2k10.6
20charcot-marie-tooth disease type 2o10.6
21charcot-marie-tooth disease, type 2j10.6
22restless legs syndrome10.6
23neuropathy10.5
24autosomal dominant intermediate charcot-marie-tooth disease type b10.5
25charcot-marie-tooth disease type 2a10.5
26charcot-marie-tooth disease type 2h10.5
27charcot-marie-tooth disease type 2n10.5
28charcot-marie-tooth disease type 2p10.5
29charcot-marie-tooth disease type 2q10.5
30autosomal dominant charcot-marie-tooth disease type 2n10.5
31autosomal dominant charcot-marie-tooth disease type 2q10.5
32autosomal dominant charcot-marie-tooth disease type 2p10.5
33autosomal dominant charcot-marie-tooth disease type 2a210.5
34autosomal dominant charcot-marie-tooth disease type 2a110.5
35axonal neuropathy10.4
36charcot-marie-tooth disease, type 2a110.4
37charcot-marie-tooth disease, axonal, type 2s10.4
38spastic paraplegia 10, autosomal dominant10.4
39leukemia10.4
40lymphoblastic leukemia10.4
41autosomal dominant charcot-marie-tooth disease type 2u10.4
42distal hereditary motor neuropathy10.4
43paraplegia10.4
44spasticity10.4
45charcot-marie-tooth disease, dominant intermediate b10.3
46generalized gangliosidoses10.3MPZ, PMP22
47congenital symblepharon10.3MPZ, PMP22
48hereditary nodular heterotopia10.2MPZ, PMP22
49neuropathy, recurrent, with pressure palsies10.2MPZ, PMP22
50peripheral nervous system neoplasm10.2GJB1, MPZ, 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 21)
id Description Frequency HPO Source Accession
1 high palate rare (5%) HP:0000218
2 ptosis rare (5%) HP:0000508
3 motor delay rare (5%) HP:0001270
4 scoliosis rare (5%) HP:0002650
5 nemaline bodies rare (5%) HP:0003798
6 increased connective tissue rare (5%) HP:0009025
7 facial palsy rare (5%) HP:0010628
8 autosomal dominant inheritance HP:0000006
9 ulnar claw HP:0001178
10 hyporeflexia HP:0001265
11 areflexia HP:0001284
12 flexion contracture HP:0001371
13 pes cavus HP:0001761
14 hammertoe HP:0001765
15 distal muscle weakness HP:0002460
16 distal sensory impairment HP:0002936
17 steppage gait HP:0003376
18 decreased motor nerve conduction velocity HP:0003431
19 distal amyotrophy HP:0003693
20 hypotrophy of the small hand muscles HP:0006006
21 foot dorsiflexor weakness HP:0009027

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

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Interventional clinical trials:

Search ClinicalTrials, 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 222 TRPV4
2 Charcot-Marie-Tooth Neuropathy Type 2s22 IGHMBP2
3 Charcot-Marie-Tooth Disease Type 2e24
4 Charcot-Marie-Tooth Disease, Type 224

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3GARS, HSPB8, IGHMBP2, KIF1B, MFN2, PMP22
2MP:00036317.4AARS, GARS, GJB1, IGHMBP2, KIF1B, MFN2
3MP:00107687.3BSCL2, GARS, GJB1, HSPB8, IGHMBP2, KIF1B
4MP:00053866.9AARS, BSCL2, GARS, GJB1, IGHMBP2, KIF1B

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

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

idTitleAuthorsYear
1
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. (24887401)
2014
2
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. (21493625)
2011
3
Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. (21168446)
2011
4
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. (20421365)
2010
5
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
6
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. (17052987)
2007
7
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
8
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. (15111691)
2004
9
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:

67
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:

5 (show all 17)
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: 24814008
4NEFLNEFL, 13-BP DUP/INS, NT61duplicationPathogenic
5NEFLNM_006158.4(NEFL): c.281T> C (p.Leu94Pro)single nucleotide variantPathogenicrs62636505GRCh37Chr 8, 24813749: 24813749
6IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)single nucleotide variantPathogenicrs372000714GRCh38Chr 11, 68906120: 68906120
7IGHMBP2NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)deletionPathogenicrs724159994GRCh38Chr 11, 68939660: 68939661
8IGHMBP2NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val)single nucleotide variantPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
9NEFLNM_006158.4(NEFL): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs191346286GRCh37Chr 8, 24811218: 24811218
10MFN2NM_014874.3(MFN2): c.2219G> C (p.Trp740Ser)single nucleotide variantPathogenicrs28940292GRCh37Chr 1, 12071567: 12071567
11MFN2NM_014874.3(MFN2): c.280C> T (p.Arg94Trp)single nucleotide variantPathogenicrs119103263GRCh37Chr 1, 12052716: 12052716
12MFN2NM_014874.3(MFN2): c.1090C> T (p.Arg364Trp)single nucleotide variantPathogenicrs119103265GRCh37Chr 1, 12062090: 12062090
13NEFLNM_006158.4(NEFL): c.1001A> C (p.Gln334Pro)single nucleotide variantPathogenicrs281865140GRCh37Chr 8, 24813029: 24813029
14NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
15NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143
16PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
17AARSNM_001605.2(AARS): c.986G> A (p.Arg329His)single nucleotide variantPathogenicrs267606621GRCh37Chr 16, 70302259: 70302259

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2GARS, GJB1, MPZ, PMP22

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

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

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:00304269.8IGHMBP2, NEFL, TRPV4
2mitochondrionGO:00057397.7AARS, DHTKD1, GARS, GDAP1, KIF1B, MFN2

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:000808910.0KIF1B, NEFL
2mitochondrial fusionGO:00080539.7GDAP1, MFN2
3response to unfolded proteinGO:00069869.7DNAJB2, MFN2
4tRNA aminoacylation for protein translationGO:00064189.5AARS, GARS

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

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:00000499.9AARS, IGHMBP2

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet