CMT2E
MCID: CHR532
MIFTS: 49

Charcot-Marie-Tooth Disease, Type 2e (CMT2E) 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

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

Name: Charcot-Marie-Tooth Disease, Type 2e 54 13
Charcot-Marie-Tooth Disease Type 2e 12 50 14
Charcot-Marie-Tooth Disease Type 2 12 50 14
Cmt2e 12 56 66
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 12 56
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 12 56
Hereditary Motor and Sensory Neuropathy Type 2 12 50
Charcot-Marie-Tooth Disease, Axonal, Type 2e 50 69
Charcot-Marie-Tooth Disease, Axonal, Type 2y 66 29
Charcot-Marie-Tooth Neuropathy Type 2e 12 66
Charcot-Marie-Tooth Disease 2y 54 66
Cmt2 Due to Vcp Mutation 12 56
Cmt2y 12 66
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 12
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 66
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y 12
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 50
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 50
Hereditary Motor and Sensory Neuropathy Okinawa Type 12
Charcot-Marie-Tooth Disease Neuronal Type 2e 66
Charcot-Marie-Tooth Disease Axonal Type 2e 66
Charcot-Marie-Tooth Neuropathy, Type 2y 66
Charcot-Marie-Tooth Neuropathy Type 2y 12
Charcot-Marie-Tooth Disease Type 2y 12
Charcot Marie Tooth Disease Type 2e 50
Charcot-Marie-Tooth Disease 2e 66
Charcot-Marie-Tooth Disease 2s 29
Charcot-Marie-Tooth Type 2 50
Cmt 2e 50
Cmt2 50

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood;
autosomal dominant charcot-marie-tooth disease type 2e
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

HPO:

32
charcot-marie-tooth disease, type 2e:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607684
ICD9CM 35 356.0
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
MeSH 42 D002607
UMLS 69 C0392553

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

UniProtKB/Swiss-Prot : 66 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 2e, is related to charcot-marie-tooth disease, type 2j and charcot-marie-tooth disease, type 2a1, and has symptoms including arthralgia, dyspnea and dysarthria. An important gene associated with Charcot-Marie-Tooth Disease, Type 2e is NEFL (Neurofilament Light), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Crest Differentiation. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.

Description from OMIM: 607684

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

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 73)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2j 32.5 AARS BSCL2 DNAJB2 GDAP1 GJB1 HSPB8
2 charcot-marie-tooth disease, type 2a1 32.5 KIF1B MFN2
3 charcot-marie-tooth disease, type 2i 32.3 KIF1B MPZ
4 charcot-marie-tooth disease, type 2a2 32.2 DNAJB2 MFN2
5 hereditary motor and sensory neuropathy, okinawa type 12.4
6 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 12.2
7 autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation 12.2
8 autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation 12.2
9 neuromyotonia and axonal neuropathy, autosomal recessive 12.0
10 charcot-marie-tooth disease, axonal, type 2u 11.8
11 charcot-marie-tooth disease, axonal, type 2v 11.8
12 charcot-marie-tooth neuropathy, x-linked recessive, 2 11.5
13 charcot-marie-tooth disease, axonal, type 2s 11.4
14 charcot-marie-tooth disease, type 2b2 11.2
15 charcot-marie-tooth disease, type 2b1 11.2
16 charcot-marie-tooth disease, type 2b 11.2
17 charcot-marie-tooth disease, type 2d 11.2
18 charcot-marie-toothe disease, axonal, type 2p 11.2
19 hereditary motor and sensory neuropathy with acrodystrophy 11.2
20 giant axonal neuropathy 2, autosomal dominant 11.2
21 charcot-marie-tooth disease 10.7
22 tooth disease 10.7
23 chd7-related isolated gonadotropin-releasing hormone deficiency 10.3 HSPB8 MPZ
24 chiari malformation type 3 10.3 HSPB8 MPZ
25 hereditary type 2 neuropathy 10.3 MPZ PMP22
26 charcot-marie-tooth disease, dominant intermediate d 10.3 KIF1B MPZ
27 chrna1-related congenital myasthenic syndrome 10.3 GJB1 MPZ PMP22
28 craniorachischisis 10.3 MPZ PMP22
29 charles bonnet syndrome 10.3 KIF1B MFN2
30 williams-beuren syndrome 10.3 GJB1 KIF1B MPZ
31 aortic aneurysm, familial thoracic 4 10.3 KIF1B MPZ NEFL
32 spermatogenic failure, x-linked, 2 10.3 GDAP1 GJB1 MPZ
33 surfactant metabolism dysfunction, pulmonary, 2 10.3 GJB1 MPZ NEFL PMP22
34 hypertonia 10.3 MPZ PMP22
35 classic galactosemia and clinical variant galactosemia 10.3 GJB1 MPZ NEFL PMP22
36 aneurysmal bone cysts 10.3 AARS KIF1B TRPV4
37 pneumonic plague 10.3 GJB1 KIF1B MPZ PMP22
38 cold-induced sweating syndrome including crisponi syndrome 10.3 KIF1B MFN2
39 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.3 HSPB8 KIF1B MPZ
40 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.3 GJB1 KIF1B MPZ PMP22
41 acute sanguinous otitis media 10.3 GJB1 KIF1B MPZ PMP22
42 deafness, autosomal recessive 76 10.3 GDAP1 GJB1 MPZ PMP22
43 charcot-marie-tooth disease, type 1e 10.3 GJB1 KIF1B MPZ PMP22
44 lowe syndrome 10.3 BSCL2 GJB1 HSPB8
45 neuropathy 10.2
46 5-oxoprolinase deficiency 10.2 GDAP1 GJB1 MFN2 TRPV4
47 nephrolithiasis, uric acid 10.2 GJB1 KIF1B MPZ PMP22 TFG
48 chondrodysplasia punctata 2, x-linked 10.2 KIF1B TRPV4
49 phototoxic dermatitis 10.2 HSPB8 MPZ PMP22 TRPV4
50 potocki-lupski syndrome 10.2 GDAP1 GJB1 KIF1B 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 & Phenotypes for Charcot-Marie-Tooth Disease, Type 2e

Symptoms by clinical synopsis from OMIM:

607684

Clinical features from OMIM:

607684 616687

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

56 32 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 dyspnea 56 32 Occasional (29-5%) HP:0002094
3 dysarthria 56 32 Occasional (29-5%) HP:0001260
4 behavioral abnormality 56 32 Occasional (29-5%) HP:0000708
5 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
6 gait imbalance 56 32 Frequent (79-30%) HP:0002141
7 pes cavus 56 32 Frequent (79-30%) HP:0001761
8 poor fine motor coordination 56 32 Occasional (29-5%) HP:0007010
9 cough 56 32 Occasional (29-5%) HP:0012735
10 difficulty walking 56 32 Occasional (29-5%) HP:0002355
11 hammertoe 56 32 Occasional (29-5%) HP:0001765
12 distal muscle weakness 56 32 Very frequent (99-80%) HP:0002460
13 proximal muscle weakness 56 32 Occasional (29-5%) HP:0003701
14 impaired vibration sensation in the lower limbs 56 32 Very frequent (99-80%) HP:0002166
15 absent achilles reflex 56 32 Frequent (79-30%) HP:0003438
16 abnormal nerve conduction velocity 56 32 Frequent (79-30%) HP:0040129
17 abnormality of hand joint mobility 56 32 Occasional (29-5%) HP:0006256
18 muscle weakness 56 Very frequent (99-80%)
19 high palate 32 HP:0000218
20 ptosis 32 HP:0000508
21 scoliosis 32 HP:0002650
22 facial palsy 32 HP:0010628
23 flexion contracture 32 HP:0001371
24 elevated serum creatine phosphokinase 32 HP:0003236
25 peripheral neuropathy 56 Frequent (79-30%)
26 decreased motor nerve conduction velocity 32 HP:0003431
27 nemaline bodies 32 HP:0003798
28 abnormality of the nervous system 56 Frequent (79-30%)
29 areflexia 32 HP:0001284
30 split hand 32 HP:0001171
31 hyporeflexia 32 HP:0001265
32 motor delay 32 HP:0001270
33 increased connective tissue 32 HP:0009025
34 steppage gait 32 HP:0003376
35 sensory impairment 56 Frequent (79-30%)
36 distal sensory impairment 32 HP:0002936
37 distal amyotrophy 32 HP:0003693
38 abnormal joint morphology 56 Occasional (29-5%)
39 foot dorsiflexor weakness 32 HP:0009027
40 ulnar claw 32 HP:0001178
41 hypotrophy of the small hand muscles 32 HP:0006006

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 BSCL2 GAN GDAP1 GJB1 IGHMBP2 KIF1B
2 cellular MP:0005384 10.03 AARS BSCL2 GAN GDAP1 GJB1 HSPB8
3 mortality/aging MP:0010768 9.93 AARS BSCL2 GAN GJB1 HSPB8 IGHMBP2
4 muscle MP:0005369 9.65 AARS GAN HSPB8 IGHMBP2 KIF1B LMNA
5 nervous system MP:0003631 9.44 LMNA MFN2 MPZ NEFL PMP22 TRPV4

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

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2e 29
2 Charcot-Marie-Tooth Disease, Type 2 29
3 Charcot-Marie-Tooth Disease, Axonal, Type 2y 29

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

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

39
Skeletal Muscle

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

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

id Title Authors Year
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
Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. ( 21168446 )
2011
3
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. ( 21493625 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 NEFL p.Gln332Pro VAR_009703 rs59443585
2 NEFL p.Pro8Arg VAR_016020 rs60261494
3 NEFL p.Pro22Ser VAR_016021 rs28928910
4 NEFL p.Leu336Pro VAR_021613 rs587777881
5 NEFL p.Glu396Lys VAR_021614 rs62636503
6 VCP p.Gly97Glu VAR_076464 rs864309502
7 VCP p.Glu185Lys VAR_076467 rs864309501

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

6 (show top 50) (show all 57)
id Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.281G> A (p.Arg94Gln) single nucleotide variant Pathogenic rs28940291 GRCh37 Chromosome 1, 12052717: 12052717
2 MFN2 NM_014874.3(MFN2): c.2219G> C (p.Trp740Ser) single nucleotide variant Pathogenic rs28940292 GRCh37 Chromosome 1, 12071567: 12071567
3 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
4 MFN2 NM_014874.3(MFN2): c.1090C> T (p.Arg364Trp) single nucleotide variant Pathogenic rs119103265 GRCh37 Chromosome 1, 12062090: 12062090
5 MFN2 NM_014874.3(MFN2): c.2119C> T (p.Arg707Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119103267 GRCh37 Chromosome 1, 12069698: 12069698
6 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
7 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
8 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
9 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
10 NEFL NM_006158.4(NEFL): c.995A> C (p.Gln332Pro) single nucleotide variant Pathogenic rs59443585 GRCh37 Chromosome 8, 24813035: 24813035
11 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
12 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh37 Chromosome 8, 24814007: 24814008
13 NEFL NEFL, 13-BP DUP/INS, NT61 duplication Pathogenic
14 NEFL NM_006158.4(NEFL): c.281T> C (p.Leu94Pro) single nucleotide variant Pathogenic rs62636505 GRCh37 Chromosome 8, 24813749: 24813749
15 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
16 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
17 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
18 MFN2 NM_014874.3(MFN2): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906990 GRCh37 Chromosome 1, 12058874: 12058874
19 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh37 Chromosome 3, 100467026: 100467026
20 NEFL NM_006158.4(NEFL): c.1001A> C (p.Gln334Pro) single nucleotide variant Pathogenic rs281865140 GRCh37 Chromosome 8, 24813029: 24813029
21 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
22 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
23 LMNA NM_005572.3(LMNA): c.1526dupC (p.Thr510Tyrfs) duplication Pathogenic/Likely pathogenic rs58013325 GRCh37 Chromosome 1, 156106941: 156106941
24 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
25 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
26 NEFL NM_006158.4(NEFL): c.23C> G (p.Pro8Arg) single nucleotide variant Pathogenic rs61491953 GRCh37 Chromosome 8, 24814007: 24814007
27 LMNA NM_170707.3(LMNA): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs267607617 GRCh37 Chromosome 1, 156105818: 156105818
28 LMNA NM_170707.3(LMNA): c.1294C> T (p.Gln432Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267607618 GRCh37 Chromosome 1, 156106141: 156106141
29 LMNA NM_170707.3(LMNA): c.1366A> G (p.Asn456Asp) single nucleotide variant Pathogenic rs267607599 GRCh37 Chromosome 1, 156106213: 156106213
30 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
31 LMNA NM_170707.3(LMNA): c.244G> A (p.Glu82Lys) single nucleotide variant Pathogenic rs59270054 GRCh37 Chromosome 1, 156084953: 156084953
32 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
33 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
34 TFG NM_001007565.2(TFG): c.806G> T (p.Gly269Val) single nucleotide variant Pathogenic rs587777789 GRCh38 Chromosome 3, 100744917: 100744917
35 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
36 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Pathogenic rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
37 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
38 IGHMBP2 NM_002180.2(IGHMBP2): c.1118T> G (p.Val373Gly) single nucleotide variant Pathogenic rs724159959 GRCh37 Chromosome 11, 68696708: 68696708
39 IGHMBP2 NM_002180.2(IGHMBP2): c.1582G> A (p.Ala528Thr) single nucleotide variant Pathogenic/Likely pathogenic rs724159960 GRCh38 Chromosome 11, 68934508: 68934508
40 NEFL NM_006158.4(NEFL): c.1261C> T (p.Arg421Ter) single nucleotide variant Pathogenic rs191346286 GRCh37 Chromosome 8, 24811218: 24811218
41 LMNA NM_170707.3(LMNA): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267607623 GRCh38 Chromosome 1, 156136021: 156136021
42 IGHMBP2 NM_002180.2(IGHMBP2): c.449+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs797044802 GRCh38 Chromosome 11, 68908338: 68908338
43 MFN2 NM_014874.3(MFN2): c.314C> T (p.Thr105Met) single nucleotide variant Pathogenic rs863224069 GRCh37 Chromosome 1, 12056215: 12056215
44 MFN2 NM_014874.3(MFN2): c.600-?_816+?del deletion Pathogenic GRCh38 Chromosome 1, 11998770: 11999095
45 MFN2 NM_014874.3(MFN2): c.707C> T (p.Thr236Met) single nucleotide variant Pathogenic/Likely pathogenic rs773159585 GRCh37 Chromosome 1, 12058934: 12058934
46 IGHMBP2 NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile) single nucleotide variant Pathogenic/Likely pathogenic rs780594709 GRCh38 Chromosome 11, 68933854: 68933854
47 VCP NM_007126.3(VCP): c.553G> A (p.Glu185Lys) single nucleotide variant Pathogenic rs864309501 GRCh37 Chromosome 9, 35065271: 35065271
48 VCP NM_007126.3(VCP): c.290G> A (p.Gly97Glu) single nucleotide variant Pathogenic rs864309502 GRCh37 Chromosome 9, 35067900: 35067900
49 MFN2 NM_014874.3(MFN2): c.2256C> G (p.Tyr752Ter) single nucleotide variant Pathogenic rs863224968 GRCh37 Chromosome 1, 12071604: 12071604
50 LMNA NM_170707.3(LMNA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs878855234 GRCh37 Chromosome 1, 156105095: 156105095

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

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

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

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

id Super pathways Score Top Affiliating Genes
1 11.74 KIF1B LMNA NEFL VCP
2 10.81 GJB1 MPZ PMP22

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

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.4 AARS DHTKD1 DNAJB2 GAN GDAP1 HSPB8
2 growth cone GO:0030426 9.13 IGHMBP2 NEFL TRPV4

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

id Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 8.96 KIF1B NEFL
2 mitochondrial fusion GO:0008053 8.62 GDAP1 MFN2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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