MCID: CHR532
MIFTS: 53

Charcot-Marie-Tooth Disease, Type 2e

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

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

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 2e:

Name: Charcot-Marie-Tooth Disease, Type 2e 54 13
Charcot-Marie-Tooth Disease Type 2e 12 50 29 14
Charcot-Marie-Tooth Disease Type 2 12 50 14
Cmt2e 12 56 71
Cmt2y 12 56 71
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 12 56
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 12 56
Neuropathy, Hereditary Motor and Sensory, Okinawa Type 50 69
Hereditary Motor and Sensory Neuropathy, Proximal Type 50 13
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 71 29
Charcot-Marie-Tooth Neuropathy Type 2e 12 71
Cmt2 Due to Vcp Mutation 12 56
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 12
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 71
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y 56
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 71
Charcot-Marie-Tooth Disease Axonal Type 2e 71
Charcot-Marie-Tooth Neuropathy, Type 2y 71
Charcot-Marie-Tooth Neuropathy Type 2y 12
Charcot-Marie-Tooth Disease, Type 2y 54
Charcot-Marie-Tooth Disease Type 2y 12
Charcot Marie Tooth Disease Type 2e 50
Charcot-Marie-Tooth Disease, Type 2 29
Charcot-Marie-Tooth Disease 2e 71
Charcot-Marie-Tooth Disease 2y 71
Charcot-Marie-Tooth Type 2 50
Cmt 2e 50
Hmsno 50
Hmsnp 50
Cmt2 50

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant charcot-marie-tooth disease type 2y
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
usually begins in feet and legs (peroneal distribution)
upper limb involvement occurs later
some patients may become wheelchair-bound
highly variable severity
variable age of onset (range first to third decade)
one family and 1 unrelated patient have been reported (last curated december 2015)
age at onset ranges from early childhood to after age 50 years


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 71 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 2i, and has symptoms including dysarthria, pes cavus and dyspnea. 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 Adipogenesis. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on charcot-marie-tooth disease.

OMIM : 54
Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616687)

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.

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, 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 4k
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 2a2 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 Charcot-Marie-Tooth Disease Type 2b5
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 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
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation

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

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2j 34.1 KIF1B MPZ
2 charcot-marie-tooth disease, type 2i 33.1 KIF1B MPZ
3 charcot-marie-tooth disease, type 2a1 33.0 KIF1B MFN2
4 hereditary motor and sensory neuropathy, okinawa type 12.4
5 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 12.2
6 autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation 12.2
7 autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation 12.2
8 autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation 12.2
9 neuromyotonia and axonal neuropathy, autosomal recessive 12.0
10 charcot-marie-tooth disease, axonal, type 2v 11.8
11 charcot-marie-tooth disease, axonal, type 2z 11.8
12 charcot-marie-tooth disease, axonal, type 2u 11.8
13 charcot-marie-tooth disease, axonal, type 2x 11.8
14 charcot-marie-tooth neuropathy, x-linked recessive, 2 11.5
15 giant axonal neuropathy 2, autosomal dominant 11.2
16 autosomal dominant charcot-marie-tooth disease type 2w 11.2
17 charcot-marie-tooth disease, type 2r 11.2
18 charcot-marie-tooth disease, axonal, type 2n 11.2
19 charcot-marie-tooth disease, axonal, type 2w 11.2
20 charcot-marie-tooth disease, type 2b2 11.2
21 charcot-marie-tooth disease, type 2d 11.2
22 charcot-marie-tooth disease, axonal, type 2f 11.2
23 charcot-marie-tooth disease, axonal, type 2cc 11.2
24 charcot-marie-tooth disease, axonal, type 2h 11.2
25 charcot-marie-tooth disease, axonal, type 2k 11.2
26 charcot-marie-tooth disease, axonal, type 2p 11.2
27 charcot-marie-tooth disease type 2a2 11.2
28 charcot-marie-tooth disease, axonal, type 2q 11.2
29 charcot-marie-tooth disease, type 2b1 11.2
30 charcot-marie-tooth disease, axonal, type 2s 11.2
31 spastic paraplegia 10, autosomal dominant 11.2
32 charcot-marie-tooth disease, axonal, type 2l 11.2
33 hereditary motor and sensory neuropathy, type iic 11.2
34 charcot-marie-tooth disease, type 2b 11.2
35 charcot-marie-tooth disease, axonal, type 20 11.2
36 charcot-marie-tooth disease, axonal, type 2t 11.2
37 hereditary motor and sensory neuropathy with acrodystrophy 11.2
38 chromosome 19q13.11 deletion syndrome, distal 11.0 MTMR2 SBF2
39 hereditary proximal myopathy with early respiratory failure 10.9 MPZ PMP22
40 charcot-marie-tooth disease type 2g 10.9 KIF1B MFN2
41 mental retardation, x-linked, syndromic 34 10.9 GJB1 MPZ PMP22
42 deafness, autosomal dominant 5 10.9 BSCL2 GARS
43 olmsted syndrome, x-linked 10.8 GJB1 SULT2B1
44 secondary hypertrophic osteoarthropathy 10.8 GJB1 KIF1B PMP22
45 charcot-marie-tooth neuropathy x type 1 10.8 KIF1B MFN2
46 conotruncal heart malformations 10.8 GJB1 MPZ NEFL PMP22
47 ampulla of vater mucinous adenocarcinoma 10.8 GJB1 KIF1B PMP22
48 hemiplegia alterans 10.8 MPZ PMP22
49 woods-black-norbury syndrome 10.8 BSCL2 GJB1 SULT2B1
50 epileptic encephalopathy, early infantile, 29 10.7 AARS KIF1B

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 via clinical synopsis from OMIM:

54

Skeletal:
joint contractures

Neurologic- Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
distal sensory impairment
hyporeflexia
areflexia
more
Skeletal- Spine:
scoliosis (in some patients)

Head And Neck- Eyes:
ptosis (in some patients)

Muscle Soft Tissue:
increased connective tissue (in some patients)
shoulder muscle weakness (in some patients)
hypotrophy of the small hand muscles
fiber-type predominance seen on muscle biopsy (in some patients)
fiber size variation (in some patients)
more
Neurologic- Central Nervous System:
delayed motor development (in some patients)

Skeletal- Feet:
foot deformities
pes cavus
hammer toes
hammertoes
high arches

Skeletal- Hands:
claw hand deformities (in severe cases)

Head And Neck- Mouth:
high-arched palate (in some patients)

Head And Neck- Face:
facial muscle weakness (in some patients)


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 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
2 pes cavus 56 32 frequent (33%) Frequent (79-30%) HP:0001761
3 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
4 cough 56 32 occasional (7.5%) Occasional (29-5%) HP:0012735
5 gait imbalance 56 32 frequent (33%) Frequent (79-30%) HP:0002141
6 distal muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0002460
7 proximal muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0003701
8 difficulty walking 56 32 occasional (7.5%) Occasional (29-5%) HP:0002355
9 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
10 poor fine motor coordination 56 32 occasional (7.5%) Occasional (29-5%) HP:0007010
11 behavioral abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000708
12 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
13 hammertoe 56 32 occasional (7.5%) Occasional (29-5%) HP:0001765
14 impaired vibration sensation in the lower limbs 56 32 hallmark (90%) Very frequent (99-80%) HP:0002166
15 absent achilles reflex 56 32 frequent (33%) Frequent (79-30%) HP:0003438
16 abnormal nerve conduction velocity 56 32 frequent (33%) Frequent (79-30%) HP:0040129
17 abnormality of hand joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0006256
18 scoliosis 32 occasional (7.5%) HP:0002650
19 distal sensory impairment 32 HP:0002936
20 hyporeflexia 32 HP:0001265
21 ptosis 32 occasional (7.5%) HP:0000508
22 peripheral neuropathy 56 Frequent (79-30%)
23 muscle weakness 56 Very frequent (99-80%)
24 areflexia 32 HP:0001284
25 motor delay 32 occasional (7.5%) HP:0001270
26 steppage gait 32 HP:0003376
27 high palate 32 occasional (7.5%) HP:0000218
28 increased connective tissue 32 occasional (7.5%) HP:0009025
29 distal amyotrophy 32 HP:0003693
30 facial palsy 32 occasional (7.5%) HP:0010628
31 sensory impairment 56 Frequent (79-30%)
32 split hand 32 HP:0001171
33 hypotrophy of the small hand muscles 32 HP:0006006
34 flexion contracture 32 HP:0001371
35 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
36 decreased motor nerve conduction velocity 32 HP:0003431
37 nemaline bodies 32 occasional (7.5%) HP:0003798
38 abnormality of the nervous system 56 Frequent (79-30%)
39 abnormal joint morphology 56 Occasional (29-5%)
40 foot dorsiflexor weakness 32 HP:0009027
41 ulnar claw 32 HP:0001178

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


muscular fasciculation

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 10.39 CNTNAP1 EGR2 GARS GJB1 IGHMBP2 KIF1B
2 growth/size/body region MP:0005378 10.18 AARS BSCL2 CNTNAP1 EGR2 GARS GJB1
3 cellular MP:0005384 10.14 AARS BSCL2 EGR2 GJB1 IGHMBP2 LMNA
4 mortality/aging MP:0010768 10.13 AARS BSCL2 CNTNAP1 EGR2 GARS GJB1
5 cardiovascular system MP:0005385 10.03 AARS BSCL2 EGR2 IGHMBP2 LMNA MFN2
6 muscle MP:0005369 9.85 AARS CNTNAP1 GARS IGHMBP2 KIF1B LMNA
7 nervous system MP:0003631 9.83 VCP AARS CNTNAP1 EGR2 GARS GJB1
8 limbs/digits/tail MP:0005371 9.72 EGR2 LMNA MTMR2 PMP22 VCP
9 reproductive system MP:0005389 9.28 MTM1 MTMR2 PMP22 SBF2 BSCL2 CNTNAP1

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:

71
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 NEFL, 13-BP DUP/INS, NT61 duplication Pathogenic
11 NEFL NM_006158.4(NEFL): c.995A> C (p.Gln332Pro) single nucleotide variant Pathogenic rs59443585 GRCh37 Chromosome 8, 24813035: 24813035
12 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
13 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh37 Chromosome 8, 24814007: 24814008
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/Likely 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 11.45 BSCL2 EGR2 LMNA
3 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 myelin sheath GO:0043209 9.26 CNTNAP1 MPZ NEFL VCP
2 vacuolar membrane GO:0005774 9.16 MTMR2 SBF2
3 axon GO:0030424 9.02 CNTNAP1 GARS IGHMBP2 MTMR2 NEFL

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 peripheral nervous system development GO:0007422 9.32 EGR2 PMP22
2 phosphatidylinositol dephosphorylation GO:0046856 9.26 MTM1 MTMR2
3 intermediate filament organization GO:0045109 9.16 MTM1 NEFL
4 neuromuscular process controlling balance GO:0050885 9.13 AARS CNTNAP1 NEFL
5 myelination GO:0042552 8.92 EGR2 MPZ PMP22 SBF2

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.96 MTM1 MTMR2
2 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.62 MTM1 MTMR2

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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....