MCID: CHR654
MIFTS: 54

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2e 57 53 73
Charcot-Marie-Tooth Disease, Axonal, Type 2s 57 29 6 40 73
Charcot-Marie-Tooth Disease Type 2e 12 53 29 6 15
Charcot-Marie-Tooth Disease, Axonal, Type 2y 57 75 29 6
Cmt2e 57 12 59 75
Cmt2s 57 12 59 75
Cmt2y 57 12 59 75
Charcot-Marie-Tooth Disease, Type 2e 57 13 40
Charcot-Marie-Tooth Disease, Type 2 29 6 40
Charcot-Marie-Tooth Disease Type 2 12 53 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 12 59
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s 57 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 57 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 12 59
Hereditary Motor and Sensory Neuropathy Type 2 12 53
Charcot-Marie-Tooth Disease Axonal Type 2s 12 15
Charcot-Marie-Tooth Disease, Axonal Type 24 29
Charcot-Marie-Tooth Neuropathy, Type 2s 57 75
Charcot-Marie-Tooth Neuropathy, Type 2y 57 75
Charcot-Marie-Tooth Neuropathy Type 2e 12 75
Charcot-Marie-Tooth Disease Type 2s 12 59
Cmt2 Due to Vcp Mutation 12 59
Cmt2 24 53
Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type 12
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s 12
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y 59
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y 12
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 53
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 53
Hereditary Motor and Sensory Neuropathy Okinawa Type 12
Hereditary Motor and Sensory-Neuropathy Type Ii 73
Charcot-Marie-Tooth Neuropathy Axonal Type 2s 75
Charcot-Marie-Tooth Disease Neuronal Type 2e 75
Charcot-Marie-Tooth Disease Axonal Type 2e 75
Charcot-Marie-Tooth Neuropathy, Type 2e 57
Charcot-Marie-Tooth Neuropathy Type 2y 12
Charcot-Marie-Tooth Neuropathy Type 2s 12
Charcot-Marie-Tooth Neuropathy Type 2 24
Charcot-Marie-Tooth Disease, Type 2y 57
Hereditary Motorsensory Neuropathy 2 24
Charcot-Marie-Tooth Disease Type 2y 12
Charcot Marie Tooth Disease Type 2e 53
Charcot-Marie-Tooth Disease 2e 75
Charcot-Marie-Tooth Disease 2s 75
Charcot-Marie-Tooth Disease 2y 75
Charcot-Marie-Tooth, Type 2 6
Charcot-Marie-Tooth Type 2 53
Hmsn Ii 55
Cmt 2e 53
Hmsn2 24

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 2s
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
usually begins in feet and legs (peroneal distribution)
upper limb involvement occurs later
some patients may become wheelchair-bound
variable age of onset (range first to third decade)


HPO:

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

charcot-marie-tooth disease, axonal, type 2y:
Onset and clinical course variable expressivity progressive
Inheritance autosomal dominant inheritance

charcot-marie-tooth disease, axonal, type 2s:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 75 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 2S: An 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. 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, Axonal, Type 2e, also known as charcot-marie-tooth disease, axonal, type 2s, is related to charcot-marie-tooth disease, axonal, type 2t and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu Binding Protein 2), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Crest Differentiation. Affiliated tissues include skeletal muscle, and related phenotypes are impaired vibration sensation in the lower limbs and distal muscle weakness

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 616155 616687
GeneReviews: NBK1285

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

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2t 33.2 DNAJB2 MME
2 charcot-marie-tooth disease, axonal, type 2a1 32.9 KIF1B MFN2
3 charcot-marie-tooth disease, axonal, type 2i 32.8 KIF1B MPZ
4 charcot-marie-tooth disease, axonal, type 2j 32.8 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2n 32.8 AARS KIF1B
6 charcot-marie-tooth disease, axonal, type 2u 32.7 GARS MARS
7 charcot-marie-tooth disease, axonal, type 2b1 32.7 DNAJB2 JPH1 LMNA
8 charcot-marie-tooth disease, axonal, type 2b2 32.7 DNAJB2 JPH1
9 charcot-marie-tooth disease, axonal, type 2f 32.6 GJB1 KIF1B MPZ
10 charcot-marie-tooth disease, x-linked dominant, 1 32.6 GDAP1 GJB1 MPZ
11 charcot-marie-tooth disease, axonal, type 2b 32.5 GJB1 KIF1B MPZ PMP22
12 charcot-marie-tooth disease, type 4d 32.4 GDAP1 GJB1 MFN2
13 charcot-marie-tooth disease, demyelinating, type 1c 32.4 KIF1B MPZ NEFL PMP22
14 charcot-marie-tooth disease, demyelinating, type 1f 32.3 GJB1 MPZ NEFL PMP22
15 charcot-marie-tooth disease, type 4a 32.3 GDAP1 JPH1 MTMR2
16 charcot-marie-tooth disease, demyelinating, type 4f 32.3 GDAP1 MTMR2
17 charcot-marie-tooth disease, type 4b3 32.3 GDAP1 MTMR2
18 charcot-marie-tooth disease, axonal, type 2k 32.3 DNAJB2 GDAP1 JPH1 KIF1B MFN2
19 distal hereditary motor neuropathies 32.2 GARS IGHMBP2
20 charcot-marie-tooth disease, type 4b2 32.1 GDAP1 MTMR2
21 charcot-marie-tooth disease, type 4b1 32.1 GDAP1 MTMR2
22 hereditary motor and sensory neuropathy, type iic 32.0 GDAP1 GJB1 KIF1B MFN2 MPZ SPG11
23 charcot-marie-tooth disease, demyelinating, type 1b 32.0 GJB1 KIF1B MPZ MTMR2 PMP22
24 charcot-marie-tooth disease, demyelinating, type 1d 32.0 GJB1 KIF1B MPZ MTMR2 PMP22
25 charcot-marie-tooth disease and deafness 32.0 GDAP1 GJB1 KIF1B MFN2 MPZ MTMR2
26 charcot-marie-tooth disease, demyelinating, type 1a 31.6 GDAP1 GJB1 KIF1B MFN2 MPZ MTMR2
27 tooth disease 30.8 AARS GARS GDAP1 GJB1 IGHMBP2 KIF1B
28 neuropathy 30.5 GAN GARS GDAP1 GJB1 MFN2 MPZ
29 charcot-marie-tooth disease 28.9 AARS BSCL2 DNAJB2 GAN GARS GDAP1
30 neuropathy, hereditary motor and sensory, okinawa type 11.5
31 hereditary motor and sensory neuropathy with acrodystrophy 11.3
32 neuronopathy, distal hereditary motor, type va 11.1 BSCL2 GARS
33 charcot-marie-tooth neuropathy type 2a 11.1 KIF1B MFN2
34 charcot-marie-tooth disease type 2a 11.1 KIF1B MFN2
35 hereditary neuropathy with liability to pressure palsy 11.1 MPZ PMP22
36 congenital hypomyelination neuropathy 11.1 MPZ PMP22
37 foot drop 11.1 MPZ PMP22
38 charcot-marie-tooth disease type 2a2 11.1 DNAJB2 MFN2
39 roussy-levy hereditary areflexic dystasia 11.1 MPZ PMP22
40 distal hereditary motor neuropathy, type v 11.0 BSCL2 GARS
41 charcot-marie-tooth disease type 2k 11.0 GDAP1 JPH1
42 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.0
43 charcot-marie-tooth disease, x-linked recessive, 3 11.0 BSCL2 GJB1
44 charcot-marie-tooth neuropathy type 1 11.0 GJB1 MPZ PMP22
45 amyotrophic neuralgia 11.0 GJB1 KIF1B PMP22
46 charcot-marie-tooth disease, axonal, type 2h 10.9 DNAJB2 GDAP1
47 brachial plexus neuropathy 10.9 GJB1 KIF1B PMP22
48 charcot-marie-tooth disease, dominant intermediate a 10.9
49 amyotrophic lateral sclerosis type 5 10.9 DNAJB2 SPG11
50 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.9 BSCL2 LMNA

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2e:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2e

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2e

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal:
joint contractures

Skeletal Spine:
scoliosis (in some patients)

Neurologic Central Nervous System:
delayed motor development (in some patients)

Muscle Soft Tissue:
internal nuclei (in some patients)
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)
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Hands:
claw hand deformities (in severe cases)

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

Head And Neck Eyes:
ptosis (in some patients)

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


Clinical features from OMIM:

607684 616155 616687

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0002166
2 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
3 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
4 gait imbalance 59 32 frequent (33%) Frequent (79-30%) HP:0002141
5 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
6 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
7 absent achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0003438
8 abnormal nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0040129
9 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
10 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
11 hammertoe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001765
12 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
13 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
14 proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003701
15 abnormality of hand joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0006256
16 poor fine motor coordination 59 32 occasional (7.5%) Occasional (29-5%) HP:0007010
17 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
18 muscle weakness 59 Very frequent (99-80%)
19 abnormality of the nervous system 59 Frequent (79-30%)
20 sensory impairment 59 Frequent (79-30%)
21 peripheral neuropathy 59 Frequent (79-30%)
22 abnormal joint morphology 59 Occasional (29-5%)
23 high palate 32 occasional (7.5%) HP:0000218
24 ptosis 32 occasional (7.5%) HP:0000508
25 split hand 32 HP:0001171
26 ulnar claw 32 HP:0001178
27 hyporeflexia 32 HP:0001265
28 motor delay 32 occasional (7.5%) HP:0001270
29 areflexia 32 HP:0001284
30 flexion contracture 32 HP:0001371
31 scoliosis 32 occasional (7.5%) HP:0002650
32 distal sensory impairment 32 HP:0002936
33 steppage gait 32 HP:0003376
34 decreased motor nerve conduction velocity 32 HP:0003431
35 distal amyotrophy 32 HP:0003693
36 nemaline bodies 32 occasional (7.5%) HP:0003798
37 hypotrophy of the small hand muscles 32 HP:0006006
38 increased connective tissue 32 occasional (7.5%) HP:0009025
39 foot dorsiflexor weakness 32 HP:0009027
40 facial palsy 32 occasional (7.5%) HP:0010628
41 talipes equinovarus 32 occasional (7.5%) HP:0001762
42 axonal degeneration 32 HP:0040078
43 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.05 GJB1
2 Decreased viability GR00240-S-1 10.05 LMNA
3 Decreased viability GR00381-A-1 10.05 MPZ VCP
4 Decreased viability GR00381-A-3 10.05 MPZ
5 Decreased viability GR00402-S-2 10.05 AARS BSCL2 DNAJB2 GAN GARS GDAP1
6 no effect GR00402-S-1 9.62 NEFL PMP22 SPG11 VCP AARS BSCL2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 AARS BSCL2 GAN GARS GDAP1 GJB1
2 cellular MP:0005384 10.15 VCP AARS BSCL2 GAN GDAP1 GJB1
3 growth/size/body region MP:0005378 10.13 AARS BSCL2 GAN GARS GJB1 IGHMBP2
4 mortality/aging MP:0010768 10 LMNA MFN2 MPZ MTMR2 PMP22 VCP
5 limbs/digits/tail MP:0005371 9.73 GDAP1 KIF1B LMNA MTMR2 PMP22 VCP
6 muscle MP:0005369 9.65 AARS GAN GARS IGHMBP2 JPH1 KIF1B
7 nervous system MP:0003631 9.5 IGHMBP2 KIF1B LMNA MFN2 MPZ MTMR2

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2e 29 NEFL
2 Charcot-Marie-Tooth Disease, Type 2 29 DNAJB2 IGHMBP2 MARS MME
3 Charcot-Marie-Tooth Disease, Axonal, Type 2s 29 IGHMBP2
4 Charcot-Marie-Tooth Disease, Axonal, Type 2y 29 VCP
5 Charcot-Marie-Tooth Disease, Axonal Type 29

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

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

41
Skeletal Muscle

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

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

# Title Authors Year
1
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E. ( 29940160 )
2018
2
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
3
Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. ( 21168446 )
2011
4
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. ( 21493625 )
2011
5
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. ( 20421365 )
2010
6
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
7
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. ( 17052987 )
2007
8
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
9
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. ( 15111691 )
2004
10
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. ( 11220745 )
2001

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2e

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

75
# Symbol AA change Variation ID SNP ID
1 IGHMBP2 p.Phe202Val VAR_072694 rs724159958
2 IGHMBP2 p.Val373Gly VAR_072696 rs724159959
3 IGHMBP2 p.Ala528Thr VAR_072697 rs724159960
4 NEFL p.Gln332Pro VAR_009703 rs59443585
5 NEFL p.Pro8Arg VAR_016020 rs60261494
6 NEFL p.Pro22Ser VAR_016021 rs28928910
7 NEFL p.Leu336Pro VAR_021613 rs587777881
8 NEFL p.Glu396Lys VAR_021614 rs62636503
9 VCP p.Gly97Glu VAR_076464 rs864309502
10 VCP p.Glu185Lys VAR_076467 rs864309501

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

6
(show top 50) (show all 2657)
# 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.281G> A (p.Arg94Gln) single nucleotide variant Pathogenic rs28940291 GRCh38 Chromosome 1, 11992660: 11992660
3 MFN2 NM_014874.3(MFN2): c.2219G> C (p.Trp740Ser) single nucleotide variant Pathogenic rs28940292 GRCh37 Chromosome 1, 12071567: 12071567
4 MFN2 NM_014874.3(MFN2): c.2219G> C (p.Trp740Ser) single nucleotide variant Pathogenic rs28940292 GRCh38 Chromosome 1, 12011510: 12011510
5 MFN2 NM_014874.3(MFN2): c.227T> C (p.Leu76Pro) single nucleotide variant Pathogenic rs28940293 GRCh37 Chromosome 1, 12052663: 12052663
6 MFN2 NM_014874.3(MFN2): c.227T> C (p.Leu76Pro) single nucleotide variant Pathogenic rs28940293 GRCh38 Chromosome 1, 11992606: 11992606
7 MFN2 NM_014874.3(MFN2): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs28940294 GRCh37 Chromosome 1, 12061480: 12061480
8 MFN2 NM_014874.3(MFN2): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs28940294 GRCh38 Chromosome 1, 12001423: 12001423
9 MFN2 NM_014874.3(MFN2): c.1071G> C (p.Lys357Asn) single nucleotide variant Likely pathogenic rs119103261 GRCh37 Chromosome 1, 12062071: 12062071
10 MFN2 NM_014874.3(MFN2): c.1071G> C (p.Lys357Asn) single nucleotide variant Likely pathogenic rs119103261 GRCh38 Chromosome 1, 12002014: 12002014
11 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
12 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh38 Chromosome 1, 11992659: 11992659
13 MFN2 NM_014874.3(MFN2): c.1090C> T (p.Arg364Trp) single nucleotide variant Pathogenic rs119103265 GRCh37 Chromosome 1, 12062090: 12062090
14 MFN2 NM_014874.3(MFN2): c.1090C> T (p.Arg364Trp) single nucleotide variant Pathogenic rs119103265 GRCh38 Chromosome 1, 12002033: 12002033
15 MFN2 NM_014874.3(MFN2): c.2119C> T (p.Arg707Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119103267 GRCh37 Chromosome 1, 12069698: 12069698
16 MFN2 NM_014874.3(MFN2): c.2119C> T (p.Arg707Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119103267 GRCh38 Chromosome 1, 12009641: 12009641
17 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
18 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh38 Chromosome 1, 11992689: 11992689
19 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
20 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
21 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
22 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh38 Chromosome 11, 62702493: 62702493
23 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
24 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh38 Chromosome 11, 62692671: 62692671
25 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
26 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
27 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh37 Chromosome 16, 70302259: 70302259
28 AARS NM_001605.2(AARS): c.986G> A (p.Arg329His) single nucleotide variant Pathogenic rs267606621 GRCh38 Chromosome 16, 70268356: 70268356
29 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
30 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh38 Chromosome 11, 68935404: 68935404
31 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh38 Chromosome 11, 68937092: 68937092
32 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh37 Chromosome 11, 68704560: 68704560
33 NEFL NM_006158.4(NEFL): c.995A> C (p.Gln332Pro) single nucleotide variant Pathogenic rs59443585 GRCh37 Chromosome 8, 24813035: 24813035
34 NEFL NM_006158.4(NEFL): c.995A> C (p.Gln332Pro) single nucleotide variant Pathogenic rs59443585 GRCh38 Chromosome 8, 24955521: 24955521
35 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
36 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh38 Chromosome 8, 24956452: 24956452
37 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh37 Chromosome 8, 24814007: 24814008
38 NEFL NM_006158.4(NEFL): c.22_23delCCinsAG (p.Pro8Arg) indel Pathogenic rs60261494 GRCh38 Chromosome 8, 24956493: 24956494
39 NEFL NM_006158.4(NEFL): c.281T> C (p.Leu94Pro) single nucleotide variant Pathogenic rs62636505 GRCh37 Chromosome 8, 24813749: 24813749
40 NEFL NM_006158.4(NEFL): c.281T> C (p.Leu94Pro) single nucleotide variant Pathogenic rs62636505 GRCh38 Chromosome 8, 24956235: 24956235
41 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
42 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh38 Chromosome 1, 156136413: 156136413
43 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
44 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
45 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
46 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
47 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
48 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh38 Chromosome 1, 156135268: 156135268
49 LMNA NM_170707.3(LMNA): c.1580G> A (p.Arg527His) single nucleotide variant Pathogenic rs57520892 GRCh37 Chromosome 1, 156106995: 156106995
50 LMNA NM_170707.3(LMNA): c.1580G> A (p.Arg527His) single nucleotide variant Pathogenic rs57520892 GRCh38 Chromosome 1, 156137204: 156137204

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.75 KIF1B LMNA NEFL VCP
2 10.81 GJB1 MPZ PMP22

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

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 AARS DNAJB2 GAN GARS GDAP1 LMNA
2 cytoplasm GO:0005737 9.8 AARS DNAJB2 GAN GARS GDAP1 GJB1
3 myelin sheath GO:0043209 9.43 MPZ NEFL VCP
4 axon GO:0030424 9.17 GARS IGHMBP2 KIF1B MME MTMR2 NEFL

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.46 AARS GARS IGHMBP2 MARS
2 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
3 tRNA aminoacylation for protein translation GO:0006418 8.8 AARS GARS MARS

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.33 AARS GARS MARS
2 tRNA binding GO:0000049 9.13 AARS IGHMBP2 MARS
3 aminoacyl-tRNA ligase activity GO:0004812 8.8 AARS GARS MARS

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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