CMT2E
MCID: CHR654
MIFTS: 61

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

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 56 52 71
Charcot-Marie-Tooth Disease, Axonal, Type 2s 56 29 6 39 71
Charcot-Marie-Tooth Disease Type 2e 12 52 29 6 15
Charcot-Marie-Tooth Disease, Axonal, Type 2y 56 73 29 6
Cmt2e 56 12 58 73
Cmt2s 56 12 58 73
Cmt2y 56 12 58 73
Hereditary Motor and Sensory Neuropathy Type 2 12 52 58
Charcot-Marie-Tooth Disease, Type 2e 56 13 39
Charcot-Marie-Tooth Disease, Type 2 29 6 39
Charcot-Marie-Tooth Disease Type 2 12 52 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 12 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s 56 73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 56 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 12 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 52 58
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 52 58
Charcot-Marie-Tooth Disease Axonal Type 2s 12 15
Charcot-Marie-Tooth Neuropathy, Type 2s 56 73
Charcot-Marie-Tooth Neuropathy, Type 2y 56 73
Charcot-Marie-Tooth Neuropathy Type 2e 12 73
Charcot-Marie-Tooth Disease Type 2y 12 15
Charcot-Marie-Tooth Disease Type 2s 12 58
Cmt2 Due to Vcp Mutation 12 58
Cmt2 52 58
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 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y 12
Hereditary Motor and Sensory Neuropathy Okinawa Type 12
Hereditary Motor and Sensory-Neuropathy Type Ii 71
Charcot-Marie-Tooth Neuropathy Axonal Type 2s 73
Charcot-Marie-Tooth Disease Neuronal Type 2e 73
Charcot-Marie-Tooth Disease Axonal Type 2e 73
Charcot-Marie-Tooth Neuropathy, Type 2e 56
Charcot-Marie-Tooth Neuropathy Type 2y 12
Charcot-Marie-Tooth Neuropathy Type 2s 12
Charcot-Marie-Tooth Disease, Type 2y 56
Charcot Marie Tooth Disease Type 2e 52
Charcot-Marie-Tooth Disease 2e 73
Charcot-Marie-Tooth Disease 2s 73
Charcot-Marie-Tooth Disease 2y 73
Charcot-Marie-Tooth Type 2 52
Cmt 2e 52

Characteristics:

Orphanet epidemiological data:

58
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 2
Inheritance: Autosomal dominant; Age of onset: All ages;
autosomal dominant charcot-marie-tooth disease type 2e
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
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:

31
charcot-marie-tooth disease, axonal, type 2e:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity

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

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


Classifications:

Orphanet: 58  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 73 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.
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 autosomal recessive axonal hereditary motor and sensory neuropathy and charcot-marie-tooth disease, x-linked recessive, 2. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is NEFL (Neurofilament Light), and among its related pathways/superpathways is Cytoskeletal Signaling. The drugs protease inhibitors and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and skin, 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.

More information from OMIM: 607684 616155 616687 PS118220

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 Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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 166)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive axonal hereditary motor and sensory neuropathy 34.2 MME LMNA
2 charcot-marie-tooth disease, x-linked recessive, 2 34.0 MPZ BSCL2
3 charcot-marie-tooth disease, axonal, type 2t 33.9 MME LRSAM1 IGHMBP2 GDAP1 GAN DNAJB2
4 charcot-marie-tooth disease type 2a2a 33.7 NEFL MPZ MFN2 GDAP1 GARS1 GAN
5 charcot-marie-tooth disease, axonal, type 2h 33.7 LRSAM1 GDAP1 DNAJB2
6 hereditary motor and sensory neuropathy, type iic 33.5 NEFL MPZ MFN2 LRSAM1 HSPB8 GDAP1
7 charcot-marie-tooth disease, axonal, type 2d 33.5 NEFL MPZ MFN2 MARS1 HSPB8 GDAP1
8 charcot-marie-tooth disease, axonal, type 2f 33.5 NEFL MTMR2 MPZ MFN2 HSPB8 GDAP1
9 charcot-marie-tooth disease, axonal, type 2b 33.5 SBF2 NEFL MTMR2 MPZ MFN2 GDAP1
10 charcot-marie-tooth disease, x-linked dominant, 1 33.5 PMP22 MTMR2 MPZ MFN2 GDAP1 GARS1
11 charcot-marie-tooth disease, axonal, type 2u 33.3 MARS1 GARS1
12 charcot-marie-tooth disease, demyelinating, type 1a 33.3 SBF2 PMP22 NEFL MTMR2 MPZ MFN2
13 charcot-marie-tooth disease and deafness 33.2 SBF2 PMP22 NEFL MTMR2 MPZ MFN2
14 charcot-marie-tooth disease, dominant intermediate a 33.1 MPZ GDAP1 DNM2
15 charcot-marie-tooth disease, axonal, type 2l 33.0 NEFL MPZ MFN2 HSPB8 GDAP1 GARS1
16 charcot-marie-tooth disease, axonal, type 2b2 33.0 NEFL MPZ MFN2 LRSAM1 GDAP1 DNAJB2
17 charcot-marie-tooth disease, axonal, type 2n 33.0 MFN2 MARS1 GDAP1 GARS1 AARS1
18 charcot-marie-tooth disease, axonal, type 2i 33.0 PMP22 MPZ MFN2 HSPB8 GDAP1 GARS1
19 charcot-marie-tooth disease, axonal, type 2b1 33.0 MFN2 LRSAM1 LMNA GDAP1 DNAJB2
20 charcot-marie-tooth disease, axonal, type 2j 33.0 SBF2 NEFL MTMR2 MPZ MFN2 GDAP1
21 charcot-marie-tooth disease, axonal, type 2a1 33.0 MPZ MFN2 LRSAM1 GDAP1 AARS1
22 charcot-marie-tooth disease, axonal, type 2cc 32.9 NEFL MPZ MFN2
23 charcot-marie-tooth disease, axonal, type 2r 32.9 LRSAM1 GDAP1 DNAJB2
24 charcot-marie-tooth disease, dominant intermediate b 32.9 SBF2 MTMR2 MPZ GDAP1 DNM2
25 charcot-marie-tooth disease, axonal, type 2p 32.9 LRSAM1 GDAP1 DNAJB2
26 charcot-marie-tooth disease, axonal, type 2w 32.9 MARS1 AARS1
27 charcot-marie-tooth disease, demyelinating, type 1b 32.8 SBF2 PMP22 MTMR2 MPZ MFN2 GDAP1
28 charcot-marie-tooth disease, demyelinating, type 1c 32.8 SBF2 PMP22 NEFL MTMR2 MPZ LRSAM1
29 charcot-marie-tooth disease, type 4a 32.7 SBF2 MTMR2 MPZ MFN2 GDAP1 DNAJB2
30 charcot-marie-tooth disease, demyelinating, type 1f 32.7 SBF2 NEFL MTMR2 MPZ LRSAM1
31 charcot-marie-tooth disease, demyelinating, type 1d 32.7 PMP22 MTMR2 MPZ GDAP1
32 charcot-marie-tooth disease, type 4c 32.7 SBF2 MTMR2 MPZ MFN2 GDAP1
33 charcot-marie-tooth disease, demyelinating, type 4f 32.7 SBF2 MTMR2 MPZ GDAP1
34 charcot-marie-tooth disease, type 4b2 32.7 SBF2 MTMR2 MPZ GDAP1 DNM2
35 charcot-marie-tooth disease, type 4h 32.7 SBF2 MTMR2 MPZ GDAP1
36 charcot-marie-tooth disease, type 4b1 32.7 SBF2 MTMR2 MPZ GDAP1 DNM2
37 charcot-marie-tooth disease, type 4d 32.7 SBF2 MTMR2 MPZ GDAP1
38 charcot-marie-tooth disease, type 4b3 32.7 SBF2 MTMR2 GDAP1
39 charcot-marie-tooth disease, type 4j 32.7 SBF2 MTMR2 GDAP1
40 charcot-marie-tooth disease, axonal, type 2k 32.7 GDAP1 DNAJB2
41 muscular atrophy 32.2 IGHMBP2 HSPB8 GARS1 DNAJB2 BSCL2
42 spinal muscular atrophy 32.1 PMP22 NEFL LMNA IGHMBP2 HSPB8 GARS1
43 foot drop 31.8 PMP22 MPZ
44 tooth disease 31.7 VCP SBF2 PMP22 NEFL MTMR2 MPZ
45 charcot-marie-tooth disease 31.7 VCP SBF2 PMP22 NEFL MTMR2 MPZ
46 charcot-marie-tooth hereditary neuropathy 31.7 IGHMBP2 GARS1
47 axonal neuropathy 31.7 PMP22 NEFL MFN2 LMNA GDAP1 GARS1
48 hypertrophic neuropathy of dejerine-sottas 31.7 SBF2 PMP22 NEFL MTMR2 MPZ MFN2
49 neuropathy, hereditary, with liability to pressure palsies 31.7 SBF2 PMP22 NEFL MTMR2 MPZ MFN2
50 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.6 SBF2 PMP22 NEFL MTMR2 MPZ MFN2

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

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

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002166
2 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
3 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
4 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
5 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
6 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
7 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
8 abnormal nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0040129
9 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
10 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
11 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
12 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
13 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
14 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
15 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
16 hammertoe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001765
17 abnormal joint morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001367
18 abnormality of hand joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0006256
19 scoliosis 31 occasional (7.5%) HP:0002650
20 ptosis 31 occasional (7.5%) HP:0000508
21 facial palsy 31 occasional (7.5%) HP:0010628
22 high palate 31 occasional (7.5%) HP:0000218
23 motor delay 31 occasional (7.5%) HP:0001270
24 talipes equinovarus 31 occasional (7.5%) HP:0001762
25 nemaline bodies 31 occasional (7.5%) HP:0003798
26 increased connective tissue 31 occasional (7.5%) HP:0009025
27 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
28 muscle weakness 58 Very frequent (99-80%)
29 abnormality of the nervous system 58 Frequent (79-30%)
30 flexion contracture 31 HP:0001371
31 areflexia 31 HP:0001284
32 peripheral neuropathy 58 Frequent (79-30%)
33 decreased motor nerve conduction velocity 31 HP:0003431
34 hyporeflexia 31 HP:0001265
35 split hand 31 HP:0001171
36 sensorimotor neuropathy 31 HP:0007141
37 distal amyotrophy 31 HP:0003693
38 foot dorsiflexor weakness 31 HP:0009027
39 steppage gait 31 HP:0003376
40 sensory impairment 58 Frequent (79-30%)
41 distal sensory impairment 31 HP:0002936
42 axonal degeneration 31 HP:0040078
43 ulnar claw 31 HP:0001178
44 hypotrophy of the small hand muscles 31 HP:0006006

Symptoms via clinical synopsis from OMIM:

56
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
Muscle Soft Tissue:
hypotrophy of the small hand muscles
internal nuclei (in some patients)
increased connective tissue (in some patients)
shoulder muscle weakness (in some patients)
fiber-type predominance seen on muscle biopsy (in some patients)
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)

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)

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

Clinical features from OMIM:

607684 616155 616687

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 GR00107-A-1 10.12 HSPB8
2 Decreased viability GR00221-A-1 10.12 HSPB8
3 Decreased viability GR00221-A-4 10.12 HSPB8
4 Decreased viability GR00240-S-1 10.12 LMNA
5 Decreased viability GR00301-A 10.12 HSPB8
6 Decreased viability GR00381-A-1 10.12 LRSAM1 MPZ VCP
7 Decreased viability GR00381-A-3 10.12 MPZ
8 Decreased viability GR00402-S-2 10.12 AARS1 BSCL2 DNAJB2 DNM2 GAN GARS1
9 no effect GR00402-S-1 9.62 AARS1 BSCL2 DNAJB2 DNM2 GAN GARS1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 AARS1 BSCL2 GAN GARS1 GDAP1 IGHMBP2
2 cellular MP:0005384 10.13 AARS1 BSCL2 DNM2 GAN GDAP1 HSPB8
3 growth/size/body region MP:0005378 10.03 AARS1 BSCL2 DNM2 GAN GARS1 IGHMBP2
4 mortality/aging MP:0010768 9.97 AARS1 BSCL2 DNM2 GAN GARS1 HSPB8
5 muscle MP:0005369 9.65 AARS1 DNM2 GAN GARS1 HSPB8 IGHMBP2
6 nervous system MP:0003631 9.53 AARS1 DNM2 GAN GARS1 GDAP1 IGHMBP2

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

Drugs for Charcot-Marie-Tooth Disease, Axonal, Type 2e (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors
2 HIV Protease Inhibitors
3 4-des-dimethylaminotetracycline
4 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

Search 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 MARS1 MME
3 Charcot-Marie-Tooth Disease, Axonal, Type 2s 29 IGHMBP2
4 Charcot-Marie-Tooth Disease, Axonal, Type 2y 29 VCP

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

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

40
Skeletal Muscle, Skin

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

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

(show all 25)
# Title Authors PMID Year
1
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. 56 6
25264603 2014
2
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 56 6
17881652 2007
3
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. 56 6
17620486 2007
4
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. 56 6
16619203 2006
5
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. 56 6
15111691 2004
6
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 56 6
12481988 2002
7
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 56 6
10841809 2000
8
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. 6
25568292 2015
9
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. 6
25878907 2015
10
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. 6
25439726 2014
11
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 6
25125609 2014
12
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 56
22206013 2011
13
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. 6
16452125 2006
14
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. 6
15282209 2004
15
Charcot-Marie-Tooth Neuropathy Type 2E/1F 6
20301366 2004
16
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 6
12566280 2003
17
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 6
11220745 2001
18
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
19
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
20
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
21
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. 61
30409445 2018
22
IGHMBP2 mutation associated with organ-specific autonomic dysfunction. 61
30385095 2018
23
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. 61
28065684 2017
24
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. 61
27450922 2016
25
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016

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

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

6 (show top 50) (show all 1766) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
2 IGHMBP2 NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)SNV Pathogenic 162197 rs724159959 11:68696708-68696708 11:68929240-68929240
3 NEFL NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)SNV Pathogenic 192322 rs191346286 8:24811218-24811218 8:24953704-24953704
4 LMNA NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)insertion Pathogenic 197776 rs797044758 1:156105053-156105054 1:156135262-156135263
5 LMNA NM_170707.4(LMNA):c.356+1G>ASNV Pathogenic 200933 rs794728589 1:156085066-156085066 1:156115275-156115275
6 LMNA NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs)indel Pathogenic 200956 rs794728605 1:156100432-156100434 1:156130641-156130643
7 LMNA NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)SNV Pathogenic 200939 rs267607623 1:156105812-156105812 1:156136021-156136021
8 MFN2 NM_014874.3(MFN2):c.314C>T (p.Thr105Met)SNV Pathogenic 214652 rs863224069 1:12056215-12056215 1:11996158-11996158
9 MFN2 NM_014874.3(MFN2):c.600-?_816+?deldeletion Pathogenic 216110 1:12058827-12059152 1:11998770-11999095
10 MFN2 NM_014874.3(MFN2):c.494A>G (p.His165Arg)SNV Pathogenic 217164 rs863224970 1:12057373-12057373 1:11997316-11997316
11 VCP NM_007126.5(VCP):c.290G>A (p.Gly97Glu)SNV Pathogenic 218306 rs864309502 9:35067900-35067900 9:35067903-35067903
12 LMNA NM_170707.4(LMNA):c.91_93del (p.Glu31del)deletion Pathogenic 218376 rs864309525 1:156084798-156084800 1:156115007-156115009
13 IGHMBP2 NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)SNV Pathogenic 234316 rs145226920 11:68701332-68701332 11:68933864-68933864
14 MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660
15 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510
16 MFN2 NM_014874.3(MFN2):c.227T>C (p.Leu76Pro)SNV Pathogenic 2270 rs28940293 1:12052663-12052663 1:11992606-11992606
17 MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His)SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423
18 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689
19 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser)SNV Pathogenic 4543 rs137852972 11:62469971-62469971 11:62702499-62702499
20 BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu)SNV Pathogenic 4544 rs137852973 11:62469965-62469965 11:62702493-62702493
21 BSCL2 NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter)SNV Pathogenic 4546 rs137852975 11:62460143-62460143 11:62692671-62692671
22 PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs)duplication Pathogenic 8437 rs80338763 17:15142825-15142826 17:15239508-15239509
23 AARS1 NM_001605.2(AARS1):c.986G>A (p.Arg329His)SNV Pathogenic 8466 rs267606621 16:70302259-70302259 16:70268356-70268356
24 IGHMBP2 NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)SNV Pathogenic 9112 rs137852665 11:68701934-68701934 11:68934466-68934466
25 IGHMBP2 NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)SNV Pathogenic 9113 rs137852666 11:68678998-68678998 11:68911530-68911530
26 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
27 MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033
28 NEFL NM_006158.4(NEFL):c.995A>C (p.Gln332Pro)SNV Pathogenic 14028 rs59443585 8:24813035-24813035 8:24955521-24955521
29 NEFL NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)indel Pathogenic 14030 rs60261494 8:24814007-24814008 8:24956493-24956494
30 NEFL NM_006158.4(NEFL):c.281T>C (p.Leu94Pro)SNV Pathogenic 14033 rs62636505 8:24813749-24813749 8:24956235-24956235
31 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
32 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His)SNV Pathogenic 14495 rs61672878 1:156105885-156105885 1:156136094-156136094
33 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
34 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His)SNV Pathogenic 14499 rs57520892 1:156106995-156106995 1:156137204-156137204
35 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=)SNV Pathogenic 14500 rs58596362 1:156108404-156108404 1:156138613-156138613
36 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)SNV Pathogenic 14481 rs57520892 1:156106995-156106995 1:156137204-156137204
37 LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)SNV Pathogenic 14483 rs28933091 1:156104265-156104265 1:156134474-156134474
38 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
39 NEFL NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro)SNV Pathogenic 41235 rs281865140 8:24813029-24813029 8:24955515-24955515
40 NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)SNV Pathogenic 41236 rs58982919 8:24813737-24813737 8:24956223-24956223
41 LMNA NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs)duplication Pathogenic 48041 rs58013325 1:156106935-156106936 1:156137144-156137145
42 LMNA NM_170707.4(LMNA):c.348dup (p.Lys117fs)duplication Pathogenic 48061 rs267607646 1:156085056-156085057 1:156115265-156115266
43 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)SNV Pathogenic 48074 rs60682848 1:156104629-156104629 1:156134838-156134838
44 LMNA NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)SNV Pathogenic 48075 rs267607573 1:156104656-156104656 1:156134865-156134865
45 NEFL NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)SNV Pathogenic 66671 rs62636503 8:24811293-24811293 8:24953779-24953779
46 LMNA NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)SNV Pathogenic 48096 rs267607554 1:156105716-156105716 1:156135925-156135925
47 LMNA NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)SNV Pathogenic 66767 rs267607617 1:156105818-156105818 1:156136027-156136027
48 LMNA NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)SNV Pathogenic 66791 rs57983345 1:156084825-156084825 1:156115034-156115034
49 LMNA NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)SNV Pathogenic 66795 rs267607620 1:156084720-156084720 1:156114929-156114929
50 LMNA NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)SNV Pathogenic 66806 rs267607637 1:156106193-156106193 1:156136402-156136402

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

73
# 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.Glu396Lys VAR_021614 rs62636503
8 NEFL p.Leu268Pro VAR_081567 rs62636502
9 VCP p.Gly97Glu VAR_076464 rs864309502
10 VCP p.Glu185Lys VAR_076467 rs864309501

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 11.41 VCP NEFL LMNA DNM2

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 cytoplasm GO:0005737 10.03 VCP SBF2 NEFL MTMR2 MME MARS1
2 cytosol GO:0005829 9.83 VCP SBF2 NEFL MTMR2 MFN2 MARS1
3 axon GO:0030424 9.17 SBF2 NEFL MTMR2 MME IGHMBP2 GARS1

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 9.71 MARS1 IGHMBP2 GARS1 AARS1
2 mitochondrial fission GO:0000266 9.43 GDAP1 DNM2
3 mitochondrial fusion GO:0008053 9.37 MFN2 GDAP1
4 myelination GO:0042552 9.33 SBF2 PMP22 MPZ
5 negative regulation of endocytosis GO:0045806 9.32 MTMR2 LRSAM1
6 myelin assembly GO:0032288 9.26 PMP22 MTMR2
7 autophagy GO:0006914 9.26 VCP SBF2 MFN2 LRSAM1
8 tRNA aminoacylation for protein translation GO:0006418 8.8 MARS1 GARS1 AARS1

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 protein binding GO:0005515 10.09 VCP SBF2 PMP22 NEFL MTMR2 MME
2 tRNA binding GO:0000049 9.13 MARS1 IGHMBP2 AARS1
3 aminoacyl-tRNA ligase activity GO:0004812 8.8 MARS1 GARS1 AARS1

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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