MCID: CHR532
MIFTS: 45

Charcot-Marie-Tooth Disease, Type 2e malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases

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

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

Name: Charcot-Marie-Tooth Disease, Type 2e 50 12
Charcot-Marie-Tooth Disease, Axonal Type 22 23 25
Charcot-Marie-Tooth Disease Type 2 11 46 13
Cmt2 22 46 23
Hereditary Motor and Sensory Neuropathy Type 2 11 46
Charcot-Marie-Tooth Disease, Axonal, Type 2e 46 66
Charcot-Marie-Tooth Neuropathy Type 2 22 23
Hmsn2 22 23
Cmt2e 52 68
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 11
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive Type, 2s 23
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 52
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 46
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 46
Hereditary Motor and Sensory Neuropathy Okinawa Type 11
Charcot-Marie-Tooth Disease, Axonal, Type 2s 66
 
Charcot-Marie-Tooth Disease Neuronal Type 2e 68
Charcot-Marie-Tooth Disease, Neuronal Type 23
Charcot-Marie-Tooth Disease Axonal Type 2e 68
Hereditary Motor and Sensory Neuropathy 2 23
Charcot-Marie-Tooth Neuropathy Type 2e 68
Charcot-Marie-Tooth Neuropathy Type 2s 23
Hereditary Motorsensory Neuropathy 2 22
Charcot Marie Tooth Disease Type 2e 46
Charcot-Marie-Tooth Disease Type 2e 46
Charcot-Marie-Tooth Disease 2e 68
Charcot-Marie-Tooth Disease 2s 25
Charcot-Marie-Tooth Type 2 46
Hmsn Ii 48
Cmt 2e 46
Cmt2s 23
Cmt 2 23

Characteristics:

Orphanet epidemiological data:

52
cmt2e:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

62
charcot-marie-tooth disease, type 2e:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 607684
Disease Ontology11 DOID:0050539
ICD9CM30 356.0
Orphanet52 ORPHA99939
ICD10 via Orphanet29 G60.0
MedGen35 C1843225
MeSH37 D002607
UMLS66 C0392553

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

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UniProtKB/Swiss-Prot:68 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 charcot-marie-tooth disease, axonal type, is related to charcot-marie-tooth disease, axonal, type 20 and hereditary motor and sensory neuropathy, okinawa type, 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.

Disease Ontology:11 A charcot-marie-tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Description from OMIM:50 607684

GeneReviews summary for NBK1285

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 Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q 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 Charcot-Marie-Tooth Disease Type 2h
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 2k
Charcot-Marie-Tooth Disease Type 2p Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Surf1-Related Charcot-Marie-Tooth Disease Type 4 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
Charcot-Marie-Tooth Disease 2z

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, axonal, type 2012.5
2hereditary motor and sensory neuropathy, okinawa type12.5
3autosomal dominant charcot-marie-tooth disease type 2 with giant axons12.3
4x-linked charcot-marie-tooth disease type 212.3
5autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation12.3
6autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation12.3
7autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation12.3
8neuromyotonia and axonal neuropathy, autosomal recessive11.9
9charcot-marie-tooth disease, type 2b111.5
10charcot-marie-tooth disease, type 2b11.5
11charcot-marie-tooth disease, type 2d11.5
12charcot-marie-tooth disease, type 2b211.5
13charcot-marie-tooth disease, axonal, type 2s11.5
14charcot-marie-tooth disease, type 2j11.5
15hereditary motor and sensory neuropathy with acrodystrophy11.3
16giant axonal neuropathy 2, autosomal dominant11.3
17charcot-marie-tooth disease10.8
18tooth disease10.8
19hereditary orotic aciduria without megaloblastic anaemia10.7MPZ, PMP22
20congestive heart failure10.7MPZ, PMP22
21headache10.6MPZ, PMP22
22hereditary motor and sensory neuropathy via10.5MFN2, PMP22
23charcot-marie-tooth neuropathy type 2o10.5HSPB8, MPZ
24charcot-marie-tooth disease type 2o10.5HSPB8, MPZ
25charcot-marie-tooth disease type 2f10.5KIF1B, MFN2
26potocki-lupski syndrome10.5GJB1, MPZ, PMP22
27pancreatic vasoactive intestinal peptide producing tumor10.5GJB1, MPZ, PMP22
28charcot-marie-tooth neuropathy type 410.5KIF1B, MFN2
29charcot-marie-tooth disease, type 1e10.5MPZ, PMP22
30amyotrophic lateral sclerosis type 1010.4DNAJB2, MED25
31chronic polyneuropathy10.4MPZ, PMP22
32neuropathy10.4
33squamous cell papilloma10.4MFN2, MPZ, PMP22
34chronic intestinal vascular insufficiency10.4GJB1, MPZ, PMP22
35charcot-marie-tooth neuropathy type 2e/1f10.3GJB1, MPZ, NEFL, PMP22
36smooth muscle tumor10.3MPZ, PMP22
37secondary hypertrophic osteoarthropathy10.2GJB1, KIF1B, MPZ, PMP22
38paraplegia10.2
39anal canal adenocarcinoma10.2GJB1, KIF1B, MPZ, PMP22
40mohr-tranebjaerg syndrome10.1MPZ, PMP22
41charcot-marie-tooth neuropathy x type 110.1GDAP1, MPZ
42testicular thecoma10.1HSPB8, IGHMBP2, TRPV4
43hereditary motor and sensory neuropathy v10.1
44charcot-marie-tooth disease, dominant intermediate b10.1
45charcot-marie-tooth neuropathy, x-linked dominant, 110.1
46pituitary adenoma, growth hormone-secreting10.1AARS, IGHMBP2, MED25, NEFL, PMP22
47charcot-marie-tooth disease, type 2a110.0
48trachea leiomyoma10.0GJB1, KIF1B, MFN2, MPZ, PMP22
49hypertonia9.9DNAJB2, GJB1, MFN2, MPZ, PMP22
50cranial pseudosarcomatous fasciitis9.9GDAP1, MFN2, PMP22, TRPV4

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 20)
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 ulnar claw HP:0001178
9 hyporeflexia HP:0001265
10 areflexia HP:0001284
11 flexion contracture HP:0001371
12 pes cavus HP:0001761
13 hammertoe HP:0001765
14 distal muscle weakness HP:0002460
15 distal sensory impairment HP:0002936
16 steppage gait HP:0003376
17 decreased motor nerve conduction velocity HP:0003431
18 distal amyotrophy HP:0003693
19 hypotrophy of the small hand muscles HP:0006006
20 foot dorsiflexor weakness HP:0009027

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


gait, drop foot

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 Disease Type 2e25
2 Charcot-Marie-Tooth Disease, Type 225
3 Charcot-Marie-Tooth Disease, Axonal Type25
4 Charcot-Marie-Tooth Neuropathy Type 223 TRPV4
5 Charcot-Marie-Tooth Neuropathy Type 2s23 IGHMBP2

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7AARS, HSPB8, IGHMBP2, KIF1B, MFN2, PMP22
2MP:00036317.4AARS, GDAP1, GJB1, IGHMBP2, KIF1B, MFN2
3MP:00053867.0AARS, BSCL2, GDAP1, 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:

68
id Symbol AA change Variation ID SNP ID
1NEFLp.Gln332ProVAR_009703rs59443585
2NEFLp.Pro8ArgVAR_016020rs60261494
3NEFLp.Pro22SerVAR_016021rs28928910
4NEFLp.Leu336ProVAR_021613rs587777881
5NEFLp.Glu396LysVAR_021614rs62636503

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1MED25NM_030973.3(MED25): c.1004C> T (p.Ala335Val)single nucleotide variantPathogenicrs145770066GRCh37Chr 19, 50334047: 50334047
2NEFLNM_006158.4(NEFL): c.995A> C (p.Gln332Pro)single nucleotide variantPathogenicrs59443585GRCh37Chr 8, 24813035: 24813035
3NEFLNM_006158.4(NEFL): c.64C> T (p.Pro22Ser)single nucleotide variantPathogenicrs28928910GRCh37Chr 8, 24813966: 24813966
4NEFLNM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg)indelPathogenicrs60261494GRCh37Chr 8, 24814007: 24814008
5NEFLNEFL, 13-BP DUP/INS, NT61duplicationPathogenic
6NEFLNM_006158.4(NEFL): c.281T> C (p.Leu94Pro)single nucleotide variantPathogenicrs62636505GRCh37Chr 8, 24813749: 24813749
7IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)single nucleotide variantPathogenicrs372000714GRCh38Chr 11, 68906120: 68906120
8IGHMBP2NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)deletionLikely pathogenic, Pathogenicrs724159994GRCh38Chr 11, 68939660: 68939661
9IGHMBP2NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val)single nucleotide variantPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
10NEFLNM_006158.4(NEFL): c.1261C> T (p.Arg421Ter)single nucleotide variantPathogenicrs191346286GRCh37Chr 8, 24811218: 24811218
11NEFLNM_006158.4(NEFL): c.1001A> C (p.Gln334Pro)single nucleotide variantPathogenicrs281865140GRCh37Chr 8, 24813029: 24813029
12NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
13NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143
14NEFLNM_006158.4(NEFL): c.23C> G (p.Pro8Arg)single nucleotide variantPathogenicrs61491953GRCh37Chr 8, 24814007: 24814007
15PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
16AARSNM_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 pathwaysScoreTop Affiliating Genes
19.7GJB1, 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
1axon cytoplasmGO:190411510.3KIF1B, NEFL
2growth coneGO:00304269.8IGHMBP2, NEFL, TRPV4

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axonal transportGO:00080899.9KIF1B, NEFL
2protein targeting to mitochondrionGO:00066269.7GDAP1, MFN2
3mitochondrial fusionGO:00080539.4GDAP1, MFN2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet