MCID: CHR532
MIFTS: 47

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 49 11
Charcot-Marie-Tooth Disease Type 2 10 45 12
Cmt2 21 45 22
Neuropathy, Hereditary Motor and Sensory, Okinawa Type 45 65
Hereditary Motor and Sensory Neuropathy Type 2 10 45
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 2y 67 24
Hmsn2 21 22
Cmt2e 51 67
Cmt2s 22 51
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive Type, 2s 22
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 10
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 67
Hereditary Motor and Sensory Neuropathy, Proximal Type 45
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 51
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 45
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 45
Hereditary Motor and Sensory Neuropathy Okinawa Type 10
Hereditary Motor and Sensory-Neuropathy Type Ii 65
Charcot-Marie-Tooth Disease Neuronal Type 2e 67
 
Charcot-Marie-Tooth Disease, Axonal, Type 2y 67
Charcot-Marie-Tooth Disease, Axonal, Type 2s 65
Charcot-Marie-Tooth Disease Axonal Type 2e 67
Charcot-Marie-Tooth Disease, Neuronal Type 22
Hereditary Motor and Sensory Neuropathy 2 22
Charcot-Marie-Tooth Neuropathy, Type 2y 67
Charcot-Marie-Tooth Neuropathy Type 2s 22
Charcot-Marie-Tooth Neuropathy Type 2e 67
Hereditary Motorsensory Neuropathy 2 21
Charcot-Marie-Tooth Disease Type 2e 45
Charcot-Marie-Tooth Disease Type 2s 51
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
Cmt 2e 45
Cmt 2 22
Hmsnp 45
Cmt2y 67
Hmsno 45

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
charcot-marie-tooth disease, type 2e:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 607684
Disease Ontology10 DOID:0050539
ICD9CM29 356.0
Orphanet51 443073, 99939
ICD10 via Orphanet28 G60.0
MeSH36 D002607
UMLS65 C0392553, C1843225, C1858338 C0270914, C4015349, more

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. Charcot-Marie-Tooth disease 2Y: An autosomal 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.

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2e, also known as charcot-marie-tooth disease type 2, is related to charcot-marie-tooth disease, axonal, type 2q and charcot-marie-tooth disease, axonal, type 2f, 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. Affiliated tissues include prostate, and related mouse phenotypes are muscle and nervous system.

Disease Ontology:10 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Description from OMIM:49 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 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 2m
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 2v 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
Charcot-Marie-Tooth Disease Type 2t 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 93)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, axonal, type 2q12.9
2charcot-marie-tooth disease, axonal, type 2f12.9
3charcot-marie-tooth disease, axonal, type 2k12.9
4charcot-marie-toothe disease, axonal, type 2p12.9
5charcot-marie-tooth disease, axonal, type 2l12.9
6charcot-marie-tooth disease, axonal, type 2012.9
7charcot-marie-tooth disease, axonal, type 2n12.9
8hereditary motor and sensory neuropathy, okinawa type12.9
9autosomal dominant charcot-marie-tooth disease type 2 with giant axons12.8
10x-linked charcot-marie-tooth disease type 212.8
11autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation12.7
12autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation12.7
13autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation12.7
14neuromyotonia and axonal neuropathy, autosomal recessive12.3
15charcot-marie-tooth disease, type 2b111.9
16charcot-marie-tooth disease, type 2b11.9
17charcot-marie-tooth disease, type 2d11.9
18charcot-marie-tooth disease, type 2b211.9
19charcot-marie-tooth disease, type 2j11.9
20charcot-marie-tooth disease, axonal, type 2s11.7
21autosomal dominant charcot-marie-tooth disease type 2v11.7
22autosomal dominant charcot-marie-tooth disease type 2u11.7
23hereditary motor and sensory neuropathy with acrodystrophy11.7
24giant axonal neuropathy 2, autosomal dominant11.3
25charcot-marie-tooth disease, type 2a110.8
26spastic paraplegia 10, autosomal dominant10.8
27hepatitis10.6
28hepatocellular carcinoma10.6
29duchenne muscular dystrophy10.6
30brain ischemia10.6
31holoprosencephaly10.6
32ulcerative colitis10.6
33colitis10.6
34dermatitis10.6
35ischemia10.6
36atopic dermatitis10.6
37muscular dystrophy10.6
38pediatric ulcerative colitis10.6
39kidney disease10.6
40hereditary motor and sensory neuropathy v10.5
41charcot-marie-tooth disease, dominant intermediate b10.5
42charcot-marie-tooth neuropathy, x-linked dominant, 110.5
43lung cancer10.5
44obesity10.5
45primary hyperparathyroidism10.4
46hyperparathyroidism10.4
47vacterl association10.4
48candidiasis10.4
49impotence10.4
50retroperitoneal fibrosis10.4

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

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

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

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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 2e:

33
Prostate

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:00053697.7AARS, GARS, HSPB8, IGHMBP2, KIF1B, MFN2
2MP:00036317.4AARS, GARS, GDAP1, IGHMBP2, KIF1B, MFN2
3MP:00107686.9AARS, BSCL2, COX6A1, GARS, HSPB8, IGHMBP2
4MP:00053866.4AARS, BSCL2, COX6A1, GARS, GDAP1, IGHMBP2

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

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

idTitleAuthorsYear
1
Structure of the Helicobacter pylori CagA oncoprotein bound to the human tumor suppressor ASPP2. (24474782)
2014
2
Thymidylate synthase and folyl-polyglutamate synthase are not clinically useful markers of response to pemetrexed in patients with malignant pleural mesothelioma. (23486267)
2013
3
Mammalian target of rapamycin (mTOR) signaling network in skeletal myogenesis. (23115234)
2012
4
LAPTM4B polymorphisms is associated with ovarian cancer susceptibility and its prognosis. (22412199)
2012
5
Combinatorial chemoprevention reveals a novel smoothened-independent role of GLI1 in esophageal carcinogenesis. (20647328)
2010
6
The integrin alpha5beta1 regulates alphavbeta3-mediated extracellular signal-regulated kinase activation. (15680379)
2005
7
A novel founder CHEK2 mutation is associated with increased prostate cancer risk. (15087378)
2004
8
Phagocytes produce 5-chlorouracil and 5-bromouracil, two mutagenic products of myeloperoxidase, in human inflammatory tissue. (12707270)
2003
9
Nutritional therapy for alcoholic hepatitis: new life for an old idea. (11231964)
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
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)deletionPathogenicrs724159994GRCh38Chr 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
11VCPNM_007126.3(VCP): c.553G> A (p.Glu185Lys)single nucleotide variantPathogenicrs864309501GRCh37Chr 9, 35065271: 35065271
12VCPNM_007126.3(VCP): c.290G> A (p.Gly97Glu)single nucleotide variantPathogenicrs864309502GRCh37Chr 9, 35067900: 35067900
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 pathwaysScoreTop Affiliating Genes
19.6GARS, MPZ, PMP22

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

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

idNameGO IDScoreTop Affiliating Genes
1polyubiquitin bindingGO:00315939.9DNAJB2, VCP

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