CMT2E
MCID: CHR654
MIFTS: 59

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. Affiliated tissues include skeletal muscle, and related phenotypes are distal muscle weakness and impaired vibration sensation in the lower limbs

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 180)
# 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 34.1 MPZ MFN2 BSCL2
3 charcot-marie-tooth disease, axonal, type 2t 33.9 SH3TC2 SBF2 MME LRSAM1 IGHMBP2 GDAP1
4 charcot-marie-tooth disease type 2a2a 33.7 MFN2 LRSAM1 IGHMBP2 DNAJB2
5 charcot-marie-tooth disease, axonal, type 2h 33.7 LRSAM1 GDAP1 DNAJB2
6 charcot-marie-tooth disease, axonal, type 2f 33.5 NEFL MPZ MFN2 HSPB8 GDAP1 GARS1
7 charcot-marie-tooth disease, x-linked dominant, 1 33.5 SH3TC2 PMP22 NEFL MTMR2 MPZ MFN2
8 charcot-marie-tooth disease, axonal, type 2d 33.5 SH3TC2 NEFL MPZ MFN2 MARS1 HSPB8
9 hereditary motor and sensory neuropathy, type iic 33.5 SH3TC2 NEFL MPZ MFN2 HSPB8 GDAP1
10 charcot-marie-tooth disease, axonal, type 2b 33.5 SH3TC2 SBF2 NEFL MTMR2 MPZ HSPB8
11 charcot-marie-tooth disease, axonal, type 2u 33.5 MARS1 GARS1 AARS1
12 charcot-marie-tooth disease, demyelinating, type 1a 33.3 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
13 charcot-marie-tooth disease and deafness 33.2 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
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 2i 33.0 SH3TC2 NEFL MPZ HSPB8 GDAP1 GARS1
17 charcot-marie-tooth disease, axonal, type 2a1 33.0 MPZ MFN2 LRSAM1 HSPB8 GDAP1 GARS1
18 charcot-marie-tooth disease, axonal, type 2j 33.0 SH3TC2 SBF2 NEFL MTMR2 MPZ GDAP1
19 charcot-marie-tooth disease, axonal, type 2b2 33.0 NEFL MPZ MFN2 LRSAM1 HSPB8 GDAP1
20 charcot-marie-tooth disease, axonal, type 2b1 33.0 MFN2 LRSAM1 LMNA GDAP1
21 charcot-marie-tooth disease, axonal, type 2n 33.0 GDAP1 GARS1 AARS1
22 charcot-marie-tooth disease, axonal, type 2w 33.0 MPZ MFN2 GDAP1
23 charcot-marie-tooth disease, axonal, type 2r 33.0 LRSAM1 GDAP1 DNAJB2
24 charcot-marie-tooth disease, dominant intermediate b 33.0 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
25 charcot-marie-tooth disease, axonal, type 2p 33.0 LRSAM1 GDAP1 DNAJB2
26 charcot-marie-tooth disease, axonal, type 2k 32.9 HSPB8 GDAP1 DNAJB2
27 charcot-marie-tooth disease, demyelinating, type 1b 32.8 SH3TC2 SBF2 PMP22 MTMR2 MPZ MFN2
28 charcot-marie-tooth disease, demyelinating, type 1c 32.8 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
29 charcot-marie-tooth disease, demyelinating, type 1d 32.8 PMP22 MTMR2 MPZ GDAP1 GARS1
30 charcot-marie-tooth disease, type 4a 32.8 SH3TC2 SBF2 MTMR2 MPZ MFN2 HSPB8
31 charcot-marie-tooth disease, demyelinating, type 1f 32.8 SBF2 NEFL MTMR2 MPZ GDAP1
32 charcot-marie-tooth disease, type 4b3 32.7 SH3TC2 SBF2 PMP22 MTMR2 MPZ GDAP1
33 charcot-marie-tooth disease, demyelinating, type 4f 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
34 charcot-marie-tooth disease, type 4h 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
35 charcot-marie-tooth disease, type 4b2 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
36 charcot-marie-tooth disease, type 4d 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
37 charcot-marie-tooth disease, type 4b1 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
38 charcot-marie-tooth disease, type 4j 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
39 charcot-marie-tooth disease, type 4c 32.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
40 muscular atrophy 32.2 SH3TC2 LMNA IGHMBP2 HSPB8 GARS1 DNAJB2
41 spinal muscular atrophy 32.1 SH3TC2 PMP22 NEFL MARS1 LMNA IGHMBP2
42 foot drop 31.8 PMP22 MPZ
43 tooth disease 31.8 VCP SH3TC2 SBF2 PMP22 NEFL MTMR2
44 charcot-marie-tooth disease 31.8 VCP SH3TC2 SBF2 PMP22 NEFL MTMR2
45 charcot-marie-tooth hereditary neuropathy 31.7 IGHMBP2 GARS1
46 axonal neuropathy 31.7 PMP22 NEFL MFN2 LMNA GDAP1 GARS1
47 hypertrophic neuropathy of dejerine-sottas 31.7 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
48 distal hereditary motor neuronopathy type 2 31.7 MPZ IGHMBP2 HSPB8 GARS1 BSCL2
49 neuropathy, hereditary, with liability to pressure palsies 31.7 SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
50 neuronopathy, distal hereditary motor, type iib 31.7 IGHMBP2 HSPB8 GARS1

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

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 9.7 HSPB8
2 Decreased viability GR00221-A-1 9.7 HSPB8
3 Decreased viability GR00221-A-4 9.7 HSPB8
4 Decreased viability GR00240-S-1 9.7 LMNA
5 Decreased viability GR00249-S 9.7 LMNA MARS1 MPZ SH3TC2
6 Decreased viability GR00301-A 9.7 HSPB8
7 Decreased viability GR00381-A-1 9.7 LRSAM1 MPZ SH3TC2 VCP
8 Decreased viability GR00381-A-3 9.7 MPZ
9 Decreased viability GR00386-A-1 9.7 LMNA LRSAM1 MARS1 MPZ NEFL
10 Decreased viability GR00402-S-2 9.7 GARS1 LRSAM1 MPZ MTMR2 VCP

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 10.36 AARS1 BSCL2 DNAJB2 GARS1 GDAP1 HSPB8
2 cellular MP:0005384 10.1 AARS1 BSCL2 DNM2 GDAP1 HSPB8 IGHMBP2
3 cardiovascular system MP:0005385 10.07 AARS1 BSCL2 DNM2 GDAP1 HSPB8 IGHMBP2
4 mortality/aging MP:0010768 9.97 AARS1 BSCL2 DNM2 GARS1 HSPB8 IGHMBP2
5 integument MP:0010771 9.86 AARS1 BSCL2 DNAJB2 GDAP1 LMNA MME
6 muscle MP:0005369 9.65 AARS1 DNM2 GARS1 HSPB8 IGHMBP2 LMNA
7 nervous system MP:0003631 9.58 AARS1 BSCL2 DNM2 GARS1 GDAP1 HSPB8

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

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

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. 6 56
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. 6 56
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. 6 56
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
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 6
25125609 2014
11
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. 6
25439726 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 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 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 Neuropathy Type 2 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301462 1998
19
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
20
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
21
IGHMBP2 mutation associated with organ-specific autonomic dysfunction. 61
30385095 2018
22
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. 61
30409445 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 2084) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEFL NM_006158.4(NEFL):c.487G>T (p.Glu163Ter)SNV Pathogenic 369981 rs876661155 8:24813543-24813543 8:24956029-24956029
2 MFN2 NM_014874.3(MFN2):c.703C>T (p.Gln235Ter)SNV Pathogenic 408318 rs879254210 1:12058930-12058930 1:11998873-11998873
3 MFN2 NM_014874.3(MFN2):c.2221T>G (p.Leu741Val)SNV Pathogenic 408322 rs1060501917 1:12071569-12071569 1:12011512-12011512
4 MFN2 NM_014874.3(MFN2):c.674_680del (p.Leu225fs)deletion Pathogenic 408319 rs1060501915 1:12058899-12058905 1:11998842-11998848
5 LMNA NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)SNV Pathogenic 408988 rs1060502211 1:156105743-156105743 1:156135952-156135952
6 GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg)SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448
7 MFN2 NM_014874.3(MFN2):c.493C>T (p.His165Tyr)SNV Pathogenic 439897 rs119103262 1:12057372-12057372 1:11997315-11997315
8 LMNA NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)SNV Pathogenic 476831 rs1553265165 1:156104272-156104272 1:156134481-156134481
9 LMNA NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)SNV Pathogenic 476824 rs267607557 1:156106973-156106973 1:156137182-156137182
10 LMNA NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)SNV Pathogenic 476834 rs1553265455 1:156105044-156105044 1:156135253-156135253
11 LMNA NM_170707.4(LMNA):c.936+1G>ASNV Pathogenic 476836 rs267607588 1:156105104-156105104 1:156135313-156135313
12 GARS1 NM_002047.4(GARS1):c.875T>G (p.Met292Arg)SNV Pathogenic 476764 rs1064795123 7:30649340-30649340 7:30609724-30609724
13 GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)SNV Pathogenic 476747 rs1554338260 7:30651830-30651830 7:30612214-30612214
14 IGHMBP2 NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs)duplication Pathogenic 466583 rs1555247732 11:68702812-68702813 11:68935344-68935345
15 BSCL2 NM_032667.6(BSCL2):c.916_917del (p.Asp306fs)deletion Pathogenic 476817 rs1554982914 11:62458303-62458304 11:62690831-62690832
16 LMNA NM_170707.4(LMNA):c.3G>A (p.Met1Ile)SNV Pathogenic 488705 rs794728598 1:156084712-156084712 1:156114921-156114921
17 IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293
18 IGHMBP2 NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)SNV Pathogenic 488695 rs773242930 11:68704316-68704316 11:68936848-68936848
19 LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)SNV Pathogenic 520447 rs57730570 1:156106909-156106909 1:156137118-156137118
20 IGHMBP2 NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)SNV Pathogenic 521206 rs1324667543 11:68675795-68675795 11:68908327-68908327
21 IGHMBP2 NM_002180.2(IGHMBP2):c.1235+894C>ASNV Pathogenic 522869 rs1202430946 11:68697719-68697719 11:68930251-68930251
22 LMNA NC_000001.11:g.(?_156114899)_(156139859_?)deldeletion Pathogenic 543301 1:156084690-156109650 1:156114899-156139859
23 LMNA NC_000001.11:g.(?_156114899)_(156126243_?)deldeletion Pathogenic 543299 1:156084690-156096034 1:156114899-156126243
24 MFN2 NM_014874.3(MFN2):c.313A>G (p.Thr105Ala)SNV Pathogenic 543234 rs1553142428 1:12056214-12056214 1:11996157-11996157
25 MFN2 NM_014874.3(MFN2):c.1082A>C (p.His361Pro)SNV Pathogenic 543232 rs1064793170 1:12062082-12062082 1:12002025-12002025
26 LMNA NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)duplication Pathogenic 543212 rs1553261855 1:156084759-156084760 1:156114968-156114969
27 LMNA NM_170707.4(LMNA):c.248_251dup (p.Glu84fs)duplication Pathogenic 543229 rs1553261982 1:156084956-156084957 1:156115165-156115166
28 LMNA NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)SNV Pathogenic 543228 rs1553264593 1:156100442-156100442 1:156130651-156130651
29 LMNA NM_170707.4(LMNA):c.729dup (p.Ala244fs)duplication Pathogenic 543223 rs1553265328 1:156104684-156104685 1:156134893-156134894
30 LMNA NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)indel Pathogenic 543181 rs1553265342 1:156104700-156104701 1:156134909-156134910
31 LMNA NM_170707.4(LMNA):c.1142del (p.Glu381fs)deletion Pathogenic 543194 rs1553265760 1:156105897-156105897 1:156136106-156136106
32 GARS1 NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)SNV Pathogenic 543227 rs1554338262 7:30651831-30651831 7:30612215-30612215
33 NEFL NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter)SNV Pathogenic 533513 rs757417962 8:24811747-24811747 8:24954233-24954233
34 BSCL2 NC_000011.10:g.(?_62702448)_(62702569_?)deldeletion Pathogenic 543298 11:62469920-62470041 11:62702448-62702569
35 IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>ASNV Pathogenic 534927 rs797044802 11:68675806-68675806 11:68908338-68908338
36 MFN2 NM_014874.3(MFN2):c.638T>C (p.Ile213Thr)SNV Pathogenic 575481 rs1557524703 1:12058865-12058865 1:11998808-11998808
37 LMNA NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)SNV Pathogenic 580670 rs1340894696 1:156105874-156105874 1:156136083-156136083
38 LMNA NM_170707.4(LMNA):c.1516del (p.His506fs)deletion Pathogenic 582185 rs1558133157 1:156106929-156106929 1:156137138-156137138
39 LMNA NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)SNV Pathogenic 568051 rs1558115754 1:156084713-156084713 1:156114922-156114922
40 LMNA NM_170707.4(LMNA):c.73del (p.Arg25fs)deletion Pathogenic 573981 rs1558115970 1:156084780-156084780 1:156114989-156114989
41 LMNA NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)SNV Pathogenic 582238 rs267607561 1:156106031-156106031 1:156136240-156136240
42 MFN2 NM_014874.3(MFN2):c.776G>A (p.Arg259His)SNV Pathogenic 577496 rs755065651 1:12059112-12059112 1:11999055-11999055
43 MFN2 NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter)SNV Pathogenic 572169 rs1557539119 1:12071599-12071599 1:12011542-12011542
44 LMNA NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)SNV Pathogenic 573778 rs1228406418 1:156084800-156084800 1:156115009-156115009
45 LMNA NM_170707.4(LMNA):c.810+32_1323deldeletion Pathogenic 572141 1:156104795-156106167 1:156135004-156136376
46 MFN2 NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro)SNV Pathogenic 572157 rs879254011 1:12062091-12062091 1:12002034-12002034
47 MFN2 NM_014874.3(MFN2):c.718T>G (p.Phe240Val)SNV Pathogenic 567033 rs1557525005 1:12059054-12059054 1:11998997-11998997
48 IGHMBP2 NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter)SNV Pathogenic 571351 rs1566430156 11:68682405-68682405 11:68914937-68914937
49 IGHMBP2 NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)SNV Pathogenic 574350 rs556292818 11:68701360-68701360 11:68933892-68933892
50 IGHMBP2 NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)SNV Pathogenic 566209 rs1373247548 11:68704523-68704523 11:68937055-68937055

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 VCP SBF2 NEFL MTMR2 MME MARS1
2 cytosol GO:0005829 9.8 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 9.73 MARS1 IGHMBP2 GARS1 AARS1
2 mitochondrial fission GO:0000266 9.4 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 SH3TC2 SBF2 PMP22 NEFL MTMR2
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
29 GTR
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33 ICD10 via Orphanet
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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