CMT2E
MCID: CHR654
MIFTS: 53

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 58 54 74
Charcot-Marie-Tooth Disease, Axonal, Type 2s 58 30 6 41 74
Charcot-Marie-Tooth Disease Type 2e 12 54 30 6 15
Charcot-Marie-Tooth Disease, Axonal, Type 2y 58 76 30 6
Cmt2e 58 12 60 76
Cmt2s 58 12 60 76
Cmt2y 58 12 60 76
Charcot-Marie-Tooth Disease, Type 2e 58 13 41
Charcot-Marie-Tooth Disease, Type 2 30 6 41
Charcot-Marie-Tooth Disease Type 2 12 54 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation 12 60
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s 58 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y 58 76
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e 12 60
Hereditary Motor and Sensory Neuropathy Type 2 12 54
Charcot-Marie-Tooth Disease Axonal Type 2s 12 15
Charcot-Marie-Tooth Neuropathy, Type 2s 58 76
Charcot-Marie-Tooth Neuropathy, Type 2y 58 76
Charcot-Marie-Tooth Neuropathy Type 2e 12 76
Charcot-Marie-Tooth Disease Type 2s 12 60
Cmt2 Due to Vcp Mutation 12 60
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 60
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y 12
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease 54
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 54
Hereditary Motor and Sensory Neuropathy Okinawa Type 12
Hereditary Motor and Sensory-Neuropathy Type Ii 74
Charcot-Marie-Tooth Neuropathy Axonal Type 2s 76
Charcot-Marie-Tooth Disease Neuronal Type 2e 76
Charcot-Marie-Tooth Disease Axonal Type 2e 76
Charcot-Marie-Tooth Neuropathy, Type 2e 58
Charcot-Marie-Tooth Neuropathy Type 2y 12
Charcot-Marie-Tooth Neuropathy Type 2s 12
Charcot-Marie-Tooth Disease, Type 2y 58
Charcot-Marie-Tooth Disease Type 2y 12
Charcot Marie Tooth Disease Type 2e 54
Charcot-Marie-Tooth Disease 2e 76
Charcot-Marie-Tooth Disease 2s 76
Charcot-Marie-Tooth Disease 2y 76
Charcot-Marie-Tooth Type 2 54
Cmt 2e 54
Cmt2 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
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: 60  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 76 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 charcot-marie-tooth disease, axonal, type 2t and charcot-marie-tooth disease, axonal, type 2h. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA 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

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
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 106)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2t 33.1 COX6A1 DNAJB2 MME
2 charcot-marie-tooth disease, axonal, type 2h 32.9 COX6A1 DNAJB2 GDAP1
3 charcot-marie-tooth disease type 2a2 32.8 COX6A1 DNAJB2 GAN MFN2
4 charcot-marie-tooth disease, axonal, type 2a1 32.3 KIF1B MFN2
5 charcot-marie-tooth disease, axonal, type 2n 32.3 AARS KIF1B
6 charcot-marie-tooth disease, axonal, type 2i 32.3 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2j 32.3 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2u 32.3 GARS MARS
9 charcot-marie-tooth disease, axonal, type 2r 32.2 COX6A1 DNAJB2
10 charcot-marie-tooth disease, axonal, type 2b1 32.2 COX6A1 DNAJB2 LMNA
11 charcot-marie-tooth disease, axonal, type 2b2 32.2 COX6A1 DNAJB2
12 charcot-marie-tooth disease, x-linked dominant, 1 32.2 GJB1 MPZ PMP22
13 charcot-marie-tooth disease, axonal, type 2p 32.2 COX6A1 DNAJB2
14 charcot-marie-tooth disease, axonal, type 2f 32.2 GJB1 KIF1B MPZ
15 charcot-marie-tooth disease, axonal, type 2k 32.1 DNAJB2 GDAP1 KIF1B MFN2
16 charcot-marie-tooth disease, axonal, type 2b 32.1 GJB1 KIF1B MPZ PMP22
17 charcot-marie-tooth disease, axonal, type 2d 32.0 GARS GJB1 KIF1B MPZ PMP22
18 charcot-marie-tooth disease and deafness 32.0 GDAP1 GJB1 KIF1B MFN2 MPZ MTMR2
19 charcot-marie-tooth disease, type 4d 32.0 GDAP1 GJB1 MFN2
20 charcot-marie-tooth disease, type 4b3 32.0 GDAP1 MTMR2
21 charcot-marie-tooth disease, demyelinating, type 4f 31.9 GDAP1 MTMR2
22 charcot-marie-tooth disease, demyelinating, type 1f 31.9 GJB1 MPZ NEFL PMP22
23 hereditary motor and sensory neuropathy, type iic 31.9 GDAP1 GJB1 KIF1B MFN2 MPZ SPG11
24 charcot-marie-tooth disease, type 4b2 31.8 GDAP1 MTMR2
25 charcot-marie-tooth disease, demyelinating, type 1c 31.8 GJB1 KIF1B MPZ NEFL PMP22
26 charcot-marie-tooth disease, type 4a 31.8 GDAP1 MTMR2
27 charcot-marie-tooth disease, demyelinating, type 1b 31.8 GJB1 KIF1B MPZ MTMR2 PMP22
28 charcot-marie-tooth disease, demyelinating, type 1d 31.8 GJB1 KIF1B MPZ MTMR2 PMP22
29 charcot-marie-tooth disease, type 4b1 31.8 GDAP1 MTMR2
30 charcot-marie-tooth disease, demyelinating, type 1a 31.6 GDAP1 GJB1 KIF1B MFN2 MPZ MTMR2
31 charcot-marie-tooth hereditary neuropathy 31.6 GARS MPZ PMP22
32 tooth disease 31.3 AARS GARS GDAP1 GJB1 IGHMBP2 KIF1B
33 polyneuropathy 31.1 GDAP1 MPZ PMP22
34 sensory peripheral neuropathy 30.5 GDAP1 GJB1 MFN2 MPZ MTMR2 PMP22
35 axonal neuropathy 30.5 GAN GARS GDAP1 LMNA MFN2 PMP22
36 neuropathy 30.5 GAN GARS GDAP1 GJB1 MFN2 MPZ
37 charcot-marie-tooth disease 30.4 AARS BSCL2 COX6A1 DNAJB2 GAN GARS
38 neuromyotonia and axonal neuropathy, autosomal recessive 12.3
39 charcot-marie-tooth disease, x-linked recessive, 2 11.7
40 neuropathy, hereditary motor and sensory, okinawa type 11.7
41 charcot-marie-tooth disease, axonal, type 2dd 11.6
42 spastic paraplegia 10, autosomal dominant 11.5
43 hereditary motor and sensory neuropathy with acrodystrophy 11.5
44 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.2
45 charcot-marie-tooth disease, dominant intermediate a 11.1
46 charcot-marie-tooth disease, dominant intermediate b 11.0
47 charcot-marie-tooth disease, axonal, type 2l 11.0
48 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.0
49 charcot-marie-tooth disease, axonal, type 2o 11.0
50 charcot-marie-tooth disease, axonal, type 2q 11.0

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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0002166
2 distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0002460
3 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
4 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
5 gait imbalance 60 33 frequent (33%) Frequent (79-30%) HP:0002141
6 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
7 absent achilles reflex 60 33 frequent (33%) Frequent (79-30%) HP:0003438
8 abnormal nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0040129
9 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
10 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
11 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
12 poor fine motor coordination 60 33 occasional (7.5%) Occasional (29-5%) HP:0007010
13 cough 60 33 occasional (7.5%) Occasional (29-5%) HP:0012735
14 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
15 proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003701
16 hammertoe 60 33 occasional (7.5%) Occasional (29-5%) HP:0001765
17 abnormality of hand joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0006256
18 high palate 33 occasional (7.5%) HP:0000218
19 ptosis 33 occasional (7.5%) HP:0000508
20 scoliosis 33 occasional (7.5%) HP:0002650
21 facial palsy 33 occasional (7.5%) HP:0010628
22 motor delay 33 occasional (7.5%) HP:0001270
23 talipes equinovarus 33 occasional (7.5%) HP:0001762
24 nemaline bodies 33 occasional (7.5%) HP:0003798
25 increased connective tissue 33 occasional (7.5%) HP:0009025
26 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
27 muscle weakness 60 Very frequent (99-80%)
28 flexion contracture 33 HP:0001371
29 peripheral neuropathy 60 Frequent (79-30%)
30 decreased motor nerve conduction velocity 33 HP:0003431
31 abnormality of the nervous system 60 Frequent (79-30%)
32 areflexia 33 HP:0001284
33 split hand 33 HP:0001171
34 hyporeflexia 33 HP:0001265
35 sensorimotor neuropathy 33 HP:0007141
36 foot dorsiflexor weakness 33 HP:0009027
37 steppage gait 33 HP:0003376
38 sensory impairment 60 Frequent (79-30%)
39 distal amyotrophy 33 HP:0003693
40 abnormal joint morphology 60 Occasional (29-5%)
41 distal sensory impairment 33 HP:0002936
42 axonal degeneration 33 HP:0040078
43 hypotrophy of the small hand muscles 33 HP:0006006
44 ulnar claw 33 HP:0001178

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AARS BSCL2 COX6A1 DNAJB2 GAN GARS

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 AARS BSCL2 COX6A1 GAN GARS GDAP1
2 cellular MP:0005384 10.15 AARS BSCL2 GAN GDAP1 GJB1 IGHMBP2
3 growth/size/body region MP:0005378 10.13 AARS BSCL2 GAN GARS GJB1 IGHMBP2
4 mortality/aging MP:0010768 9.97 AARS BSCL2 GAN GARS GJB1 IGHMBP2
5 limbs/digits/tail MP:0005371 9.73 GDAP1 KIF1B LMNA MTMR2 PMP22 VCP
6 muscle MP:0005369 9.65 AARS COX6A1 GAN GARS IGHMBP2 KIF1B
7 nervous system MP:0003631 9.53 AARS COX6A1 GAN GARS GDAP1 GJB1

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 30 NEFL
2 Charcot-Marie-Tooth Disease, Type 2 30 DNAJB2 IGHMBP2 MARS MME
3 Charcot-Marie-Tooth Disease, Axonal, Type 2s 30 IGHMBP2
4 Charcot-Marie-Tooth Disease, Axonal, Type 2y 30 VCP

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

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

42
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:

76
# 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 3374)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.881A> G (p.Lys294Arg) single nucleotide variant Uncertain significance rs373698346 GRCh38 Chromosome 1, 10275444: 10275444
2 KIF1B NM_015074.3(KIF1B): c.881A> G (p.Lys294Arg) single nucleotide variant Uncertain significance rs373698346 GRCh37 Chromosome 1, 10335502: 10335502
3 AARS NM_001605.2(AARS): c.497T> G (p.Ile166Ser) single nucleotide variant Uncertain significance rs199997425 GRCh38 Chromosome 16, 70271955: 70271955
4 AARS NM_001605.2(AARS): c.497T> G (p.Ile166Ser) single nucleotide variant Uncertain significance rs199997425 GRCh37 Chromosome 16, 70305858: 70305858
5 LMNA NM_001257374.2(LMNA): c.665G> A (p.Ser222Asn) single nucleotide variant Uncertain significance rs370656306 GRCh37 Chromosome 1, 156105756: 156105756
6 LMNA NM_001257374.2(LMNA): c.665G> A (p.Ser222Asn) single nucleotide variant Uncertain significance rs370656306 GRCh38 Chromosome 1, 156135965: 156135965
7 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh37 Chromosome 1, 156108511: 156108511
8 LMNA NM_170707.3(LMNA): c.1931G> A (p.Arg644His) single nucleotide variant Uncertain significance rs368386019 GRCh38 Chromosome 1, 156138720: 156138720
9 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
10 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh37 Chromosome 11, 68673588: 68673588
11 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
12 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh37 Chromosome 11, 68707128: 68707129
13 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh38 Chromosome 11, 68911496: 68911496
14 IGHMBP2 NM_002180.2(IGHMBP2): c.604T> G (p.Phe202Val) single nucleotide variant Pathogenic rs724159958 GRCh37 Chromosome 11, 68678964: 68678964
15 IGHMBP2 NM_002180.2(IGHMBP2): c.1118T> G (p.Val373Gly) single nucleotide variant Pathogenic rs724159959 GRCh37 Chromosome 11, 68696708: 68696708
16 IGHMBP2 NM_002180.2(IGHMBP2): c.1118T> G (p.Val373Gly) single nucleotide variant Pathogenic rs724159959 GRCh38 Chromosome 11, 68929240: 68929240
17 IGHMBP2 NM_002180.2(IGHMBP2): c.1582G> A (p.Ala528Thr) single nucleotide variant Likely pathogenic rs724159960 GRCh38 Chromosome 11, 68934508: 68934508
18 IGHMBP2 NM_002180.2(IGHMBP2): c.1582G> A (p.Ala528Thr) single nucleotide variant Likely pathogenic rs724159960 GRCh37 Chromosome 11, 68701976: 68701976
19 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh37 Chromosome 1, 10355834: 10355834
20 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh38 Chromosome 1, 10295776: 10295776
21 LMNA NM_170707.3(LMNA): c.497G> A (p.Arg166Gln) single nucleotide variant Uncertain significance rs267607570 GRCh37 Chromosome 1, 156100548: 156100548
22 LMNA NM_170707.3(LMNA): c.497G> A (p.Arg166Gln) single nucleotide variant Uncertain significance rs267607570 GRCh38 Chromosome 1, 156130757: 156130757
23 LMNA NM_170707.3(LMNA): c.686T> C (p.Ile229Thr) single nucleotide variant Uncertain significance rs727505357 GRCh37 Chromosome 1, 156104642: 156104642
24 LMNA NM_170707.3(LMNA): c.686T> C (p.Ile229Thr) single nucleotide variant Uncertain significance rs727505357 GRCh38 Chromosome 1, 156134851: 156134851
25 LMNA NM_170707.3(LMNA): c.1634G> A (p.Arg545His) single nucleotide variant Conflicting interpretations of pathogenicity rs142191737 GRCh37 Chromosome 1, 156107470: 156107470
26 LMNA NM_170707.3(LMNA): c.1634G> A (p.Arg545His) single nucleotide variant Conflicting interpretations of pathogenicity rs142191737 GRCh38 Chromosome 1, 156137679: 156137679
27 MED25 NM_030973.3(MED25): c.418C> T (p.Arg140Trp) single nucleotide variant Uncertain significance rs781140315 GRCh38 Chromosome 19, 49828983: 49828983
28 MED25 NM_030973.3(MED25): c.418C> T (p.Arg140Trp) single nucleotide variant Uncertain significance rs781140315 GRCh37 Chromosome 19, 50332240: 50332240
29 MFN2 NM_014874.3(MFN2): c.1723C> T (p.Arg575Cys) single nucleotide variant Uncertain significance rs786204244 GRCh38 Chromosome 1, 12006544: 12006544
30 MFN2 NM_014874.3(MFN2): c.1723C> T (p.Arg575Cys) single nucleotide variant Uncertain significance rs786204244 GRCh37 Chromosome 1, 12066601: 12066601
31 GARS NM_002047.3(GARS): c.236G> A (p.Arg79Gln) single nucleotide variant Uncertain significance rs369466037 GRCh37 Chromosome 7, 30638425: 30638425
32 GARS NM_002047.3(GARS): c.236G> A (p.Arg79Gln) single nucleotide variant Uncertain significance rs369466037 GRCh38 Chromosome 7, 30598809: 30598809
33 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh37 Chromosome 7, 30649268: 30649268
34 GARS NM_002047.3(GARS): c.803C> T (p.Thr268Ile) single nucleotide variant Benign/Likely benign rs2230310 GRCh38 Chromosome 7, 30609652: 30609652
35 GARS NM_002047.3(GARS): c.855C> G (p.Phe285Leu) single nucleotide variant Uncertain significance rs786204099 GRCh37 Chromosome 7, 30649320: 30649320
36 GARS NM_002047.3(GARS): c.855C> G (p.Phe285Leu) single nucleotide variant Uncertain significance rs786204099 GRCh38 Chromosome 7, 30609704: 30609704
37 GARS NM_002047.3(GARS): c.1568A> T (p.Asp523Val) single nucleotide variant Uncertain significance rs779225125 GRCh38 Chromosome 7, 30622417: 30622417
38 GARS NM_002047.3(GARS): c.1568A> T (p.Asp523Val) single nucleotide variant Uncertain significance rs779225125 GRCh37 Chromosome 7, 30662033: 30662033
39 BSCL2 NM_032667.6(BSCL2): c.690C> G (p.Phe230Leu) single nucleotide variant Uncertain significance rs786204131 GRCh37 Chromosome 11, 62458875: 62458875
40 BSCL2 NM_032667.6(BSCL2): c.690C> G (p.Phe230Leu) single nucleotide variant Uncertain significance rs786204131 GRCh38 Chromosome 11, 62691403: 62691403
41 AARS NM_001605.2(AARS): c.2251A> G (p.Arg751Gly) single nucleotide variant Uncertain significance rs143370729 GRCh38 Chromosome 16, 70255763: 70255763
42 AARS NM_001605.2(AARS): c.2251A> G (p.Arg751Gly) single nucleotide variant Uncertain significance rs143370729 GRCh37 Chromosome 16, 70289666: 70289666
43 LMNA NM_005572.3(LMNA): c.1017G> A (p.Ala339=) single nucleotide variant Conflicting interpretations of pathogenicity rs17847242 GRCh37 Chromosome 1, 156105772: 156105772
44 LMNA NM_005572.3(LMNA): c.1017G> A (p.Ala339=) single nucleotide variant Conflicting interpretations of pathogenicity rs17847242 GRCh38 Chromosome 1, 156135981: 156135981
45 NEFL NM_006158.4(NEFL): c.1261C> T (p.Arg421Ter) single nucleotide variant Pathogenic rs191346286 GRCh37 Chromosome 8, 24811218: 24811218
46 NEFL NM_006158.4(NEFL): c.1261C> T (p.Arg421Ter) single nucleotide variant Pathogenic rs191346286 GRCh38 Chromosome 8, 24953704: 24953704
47 MFN2 NM_014874.3(MFN2): c.975C> T (p.Gly325=) single nucleotide variant Benign/Likely benign rs141475476 GRCh37 Chromosome 1, 12061830: 12061830
48 MFN2 NM_014874.3(MFN2): c.975C> T (p.Gly325=) single nucleotide variant Benign/Likely benign rs141475476 GRCh38 Chromosome 1, 12001773: 12001773
49 IGHMBP2 NM_002180.2(IGHMBP2): c.1546C> T (p.Arg516Cys) single nucleotide variant Uncertain significance rs757425203 GRCh37 Chromosome 11, 68701940: 68701940
50 IGHMBP2 NM_002180.2(IGHMBP2): c.1546C> T (p.Arg516Cys) single nucleotide variant Uncertain significance rs757425203 GRCh38 Chromosome 11, 68934472: 68934472

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 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 9.56 AARS GARS IGHMBP2 MARS
2 mitochondrial fusion GO:0008053 9.16 GDAP1 MFN2
3 myelin assembly GO:0032288 8.96 MTMR2 PMP22
4 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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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