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 51 12
Charcot-Marie-Tooth Disease Type 2 11 47 13
Cmt2e 11 53 69
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 11 53
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 11 53
Hereditary Motor and Sensory Neuropathy Type 2 11 47
Charcot-Marie-Tooth Disease, Axonal, Type 2y 69 26
Charcot-Marie-Tooth Disease, Axonal, Type 2e 47 67
Charcot-Marie-Tooth Neuropathy Type 2e 11 69
Charcot-Marie-Tooth Disease Type 2e 11 47
Charcot-Marie-Tooth Disease 2y 51 69
Cmt2 Due to Vcp Mutation 11 53
Cmt2y 11 69
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 11
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 69
 
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 47
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 47
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y 11
Hereditary Motor and Sensory Neuropathy Okinawa Type 11
Charcot-Marie-Tooth Disease Neuronal Type 2e 69
Charcot-Marie-Tooth Disease Axonal Type 2e 69
Charcot-Marie-Tooth Neuropathy, Type 2y 69
Charcot-Marie-Tooth Neuropathy Type 2y 11
Charcot-Marie-Tooth Disease Type 2y 11
Charcot Marie Tooth Disease Type 2e 47
Charcot-Marie-Tooth Disease 2s 26
Charcot-Marie-Tooth Disease 2e 69
Charcot-Marie-Tooth Type 2 47
Cmt 2e 47
Cmt2 47

Characteristics:

Orphanet epidemiological data:

53
autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood
cmt2e:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood

HPO:

63
charcot-marie-tooth disease, type 2e:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 607684
ICD9CM31 356.0
ICD1029 G60.0
ICD10 via Orphanet30 G60.0
MeSH38 D002607
UMLS67 C0392553

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

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UniProtKB/Swiss-Prot:69 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 hereditary motor and sensory neuropathy, okinawa type and autosomal dominant charcot-marie-tooth disease type 2 with giant axons, 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), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and cellular.

Disease Ontology:11 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Descriptions from OMIM:51 607684,616687

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 Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
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 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
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 56)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy, okinawa type12.4
2autosomal dominant charcot-marie-tooth disease type 2 with giant axons12.2
3autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation12.2
4autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation12.2
5neuromyotonia and axonal neuropathy, autosomal recessive12.0
6charcot-marie-tooth disease, type 2j12.0
7charcot-marie-tooth disease, axonal, type 2u11.8
8charcot-marie-tooth disease, axonal, type 2v11.8
9charcot-marie-tooth neuropathy, x-linked recessive, 211.5
10charcot-marie-tooth disease, axonal, type 2s11.4
11charcot-marie-tooth disease, type 2a111.4
12charcot-marie-tooth disease, type 2a211.3
13charcot-marie-tooth disease, axonal, type 2q11.3
14charcot-marie-tooth disease, axonal, type 2l11.3
15charcot-marie-tooth disease, axonal, type 2011.3
16charcot-marie-tooth disease, axonal, type 2n11.3
17hereditary motor and sensory neuropathy with acrodystrophy11.2
18giant axonal neuropathy 2, autosomal dominant11.2
19charcot-marie-tooth disease10.7
20tooth disease10.7
21hereditary orotic aciduria without megaloblastic anaemia10.6MPZ, PMP22
22congestive heart failure10.6MPZ, PMP22
23headache10.6MPZ, PMP22
24charcot-marie-tooth neuropathy type 2o10.5HSPB8, MPZ
25charcot-marie-tooth disease type 2f10.5KIF1B, MFN2
26charcot-marie-tooth disease type 2o10.5HSPB8, MPZ
27potocki-lupski syndrome10.5GJB1, MPZ, PMP22
28pancreatic vasoactive intestinal peptide producing tumor10.5GJB1, MPZ, PMP22
29hereditary motor and sensory neuropathy via10.5MFN2, PMP22
30chronic polyneuropathy10.4MPZ, PMP22
31squamous cell papilloma10.4MFN2, MPZ, PMP22
32charcot-marie-tooth neuropathy type 2e/1f10.4GJB1, MPZ, NEFL, PMP22
33secondary hypertrophic osteoarthropathy10.3GJB1, KIF1B, MPZ, PMP22
34chronic intestinal vascular insufficiency10.3GJB1, MPZ, PMP22
35anal canal adenocarcinoma10.3GJB1, KIF1B, MPZ, PMP22
36neuropathy10.2
37charcot-marie-tooth disease, type 1e10.1MPZ, PMP22
38hypertonia10.1DNAJB2, GJB1, MFN2, MPZ, PMP22
39mucopolysaccharidosis iii10.0BSCL2, CHCHD10, VCP
40angiodysplasia10.0GDAP1, GJB1, KIF1B, MPZ, PMP22
41dejerine-sottas disease10.0GDAP1, GJB1, KIF1B, MPZ, PMP22
42pituitary adenoma, growth hormone-secreting10.0AARS, IGHMBP2, MED25, NEFL, PMP22, VCP
43trachea leiomyoma10.0GJB1, KIF1B, MFN2, MPZ, PMP22, TFG
44testicular thecoma9.9HSPB8, IGHMBP2, TRPV4
45occupational dermatitis9.7GDAP1, GJB1, MFN2, MPZ, PMP22, TRPV4
46splenic marginal zone lymphoma9.6CHCHD10, IGHMBP2, TRPV4
47cranial pseudosarcomatous fasciitis9.6GAN, GDAP1, MFN2, PMP22, TRPV4
48genital herpes9.5GAN, GDAP1, GJB1, MFN2, MPZ, PMP22
49neuropathy, congenital hypomyelinating9.3BSCL2, DNAJB2, GDAP1, HSPB8, KIF1B, MFN2
50amnestic disorder8.7AARS, GDAP1, GJB1, HSPB8, KIF1B, MED25

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:

607684,616687

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

 63 53 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate63 rare (5%) HP:0000218
2 ptosis63 rare (5%) HP:0000508
3 motor delay63 rare (5%) HP:0001270
4 scoliosis63 rare (5%) HP:0002650
5 nemaline bodies63 rare (5%) HP:0003798
6 increased connective tissue63 rare (5%) HP:0009025
7 facial palsy63 rare (5%) HP:0010628
8 ulnar claw63 HP:0001178
9 hyporeflexia63 HP:0001265
10 areflexia63 HP:0001284
11 flexion contracture63 HP:0001371
12 pes cavus63 53 Frequent (79-30%) HP:0001761
13 hammertoe63 53 Occasional (29-5%) HP:0001765
14 distal muscle weakness63 53 Very frequent (99-80%) HP:0002460
15 distal sensory impairment63 HP:0002936
16 steppage gait63 HP:0003376
17 decreased motor nerve conduction velocity63 HP:0003431
18 distal amyotrophy63 HP:0003693
19 hypotrophy of the small hand muscles63 HP:0006006
20 foot dorsiflexor weakness63 HP:0009027
21 skeletal muscle atrophy53 Frequent (79-30%)
22 muscle weakness53 Very frequent (99-80%)
23 impaired vibration sensation in the lower limbs53 Very frequent (99-80%)
24 abnormality of the nervous system53 Frequent (79-30%)
25 gait imbalance53 Frequent (79-30%)
26 arthralgia53 Frequent (79-30%)
27 absent achilles reflex53 Frequent (79-30%)
28 sensory impairment53 Frequent (79-30%)
29 peripheral neuropathy53 Frequent (79-30%)
30 abnormal nerve conduction velocity53 Frequent (79-30%)
31 behavioral abnormality53 Occasional (29-5%)
32 dysarthria53 Occasional (29-5%)
33 abnormal joint morphology53 Occasional (29-5%)
34 limitation of joint mobility53 Occasional (29-5%)
35 dyspnea53 Occasional (29-5%)
36 difficulty walking53 Occasional (29-5%)
37 proximal muscle weakness53 Occasional (29-5%)
38 abnormality of hand joint mobility53 Occasional (29-5%)
39 cough53 Occasional (29-5%)

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 2e26
2 Charcot-Marie-Tooth Disease, Type 226
3 Charcot-Marie-Tooth Disease, Axonal, Type 2y26

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

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

35
Skeletal muscle

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8AARS, GAN, HSPB8, IGHMBP2, KIF1B, MFN2
2MP:00053848.7AARS, BSCL2, GAN, GDAP1, GJB1, HSPB8
3MP:00107688.3AARS, BSCL2, GAN, GJB1, HSPB8, IGHMBP2
4MP:00053867.8AARS, BSCL2, GAN, GDAP1, GJB1, IGHMBP2
5MP:00036317.4AARS, GAN, 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:

69
id Symbol AA change Variation ID SNP ID
1NEFLp.Gln332ProVAR_009703rs59443585
2NEFLp.Pro8ArgVAR_016020rs60261494
3NEFLp.Pro22SerVAR_016021rs28928910
4NEFLp.Leu336ProVAR_021613rs587777881
5NEFLp.Glu396LysVAR_021614rs62636503
6VCPp.Gly97GluVAR_076464rs864309502
7VCPp.Glu185LysVAR_076467rs864309501

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

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1MED25NM_030973.3(MED25): c.1004C> T (p.Ala335Val)SNVPathogenicrs145770066GRCh37Chr 19, 50334047: 50334047
2NEFLNM_006158.4(NEFL): c.995A> C (p.Gln332Pro)SNVPathogenicrs59443585GRCh37Chr 8, 24813035: 24813035
3NEFLNM_006158.4(NEFL): c.64C> T (p.Pro22Ser)SNVPathogenicrs28928910GRCh37Chr 8, 24813966: 24813966
4NEFLNM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg)indelPathogenicrs60261494GRCh37Chr 8, 24814007: 24814008
5NEFLNEFL, 13-BP DUP/INS, NT61duplicationPathogenicChr na, -1: -1
6NEFLNM_006158.4(NEFL): c.281T> C (p.Leu94Pro)SNVPathogenicrs62636505GRCh37Chr 8, 24813749: 24813749
7TFGNM_001007565.2(TFG): c.806G> T (p.Gly269Val)SNVPathogenicrs587777789GRCh38Chr 3, 100744917: 100744917
8IGHMBP2NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)SNVPathogenicrs372000714GRCh38Chr 11, 68906120: 68906120
9IGHMBP2NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)deletionLikely pathogenic, Pathogenicrs724159994GRCh38Chr 11, 68939660: 68939661
10IGHMBP2NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val)SNVPathogenicrs724159958GRCh38Chr 11, 68911496: 68911496
11IGHMBP2NM_002180.2(IGHMBP2): c.1582G> A (p.Ala528Thr)SNVLikely pathogenic, Pathogenicrs724159960GRCh38Chr 11, 68934508: 68934508
12NEFLNM_006158.4(NEFL): c.1261C> T (p.Arg421Ter)SNVPathogenicrs191346286GRCh37Chr 8, 24811218: 24811218
13IGHMBP2NM_002180.2(IGHMBP2): c.449+1G> TSNVLikely pathogenic, Pathogenicrs797044802GRCh38Chr 11, 68908338: 68908338
14IGHMBP2NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile)SNVLikely pathogenic, Pathogenicrs780594709GRCh38Chr 11, 68933854: 68933854
15VCPNM_007126.3(VCP): c.553G> A (p.Glu185Lys)SNVPathogenicrs864309501GRCh37Chr 9, 35065271: 35065271
16VCPNM_007126.3(VCP): c.290G> A (p.Gly97Glu)SNVPathogenicrs864309502GRCh37Chr 9, 35067900: 35067900
17MFN2NM_014874.3(MFN2): c.2219G> C (p.Trp740Ser)SNVLikely pathogenic, Pathogenicrs28940292GRCh37Chr 1, 12071567: 12071567
18MFN2NM_014874.3(MFN2): c.280C> T (p.Arg94Trp)SNVPathogenicrs119103263GRCh37Chr 1, 12052716: 12052716
19MFN2NM_014874.3(MFN2): c.1090C> T (p.Arg364Trp)SNVPathogenicrs119103265GRCh37Chr 1, 12062090: 12062090
20IGHMBP2NM_002180.2(IGHMBP2): c.2560C> T (p.Gln854Ter)SNVPathogenicrs750024353GRCh37Chr 11, 68704508: 68704508
21NEFLNM_006158.4(NEFL): c.487G> T (p.Glu163Ter)SNVPathogenicrs876661155GRCh38Chr 8, 24956029: 24956029
22TFGNM_006070.5(TFG): c.854C> T (p.Pro285Leu)SNVPathogenicrs207482230GRCh37Chr 3, 100467026: 100467026
23NEFLNM_006158.4(NEFL): c.1001A> C (p.Gln334Pro)SNVPathogenicrs281865140GRCh37Chr 8, 24813029: 24813029
24BSCL2NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)SNVPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971
25NEFLNM_006158.4(NEFL): c.23C> G (p.Pro8Arg)SNVPathogenicrs61491953GRCh37Chr 8, 24814007: 24814007
26LMNANM_170707.3(LMNA): c.1294C> T (p.Gln432Ter)SNVLikely pathogenic, Pathogenicrs267607618GRCh37Chr 1, 156106141: 156106141
27LMNANM_170707.3(LMNA): c.1622G> A (p.Arg541His)SNVLikely pathogenic, Pathogenicrs61444459GRCh37Chr 1, 156107458: 156107458
28PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
29AARSNM_001605.2(AARS): c.986G> A (p.Arg329His)SNVPathogenicrs267606621GRCh37Chr 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
19.8GJB1, 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:00304269.7IGHMBP2, 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:000808910.0KIF1B, NEFL
2mitochondrial fusionGO:000805310.0GDAP1, MFN2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet