MCID: CHR135
MIFTS: 24

Charcot-Marie-Tooth Disease Type 2a

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2a

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

Name: Charcot-Marie-Tooth Disease Type 2a 52
Charcot-Marie-Tooth Disease, Type 2a 29 71
Charcot-Marie-Tooth Disease, Neuronal, Type 2a 52
Charcot-Marie-Tooth Disease, Axonal, Type 2a 52
Hereditary Motor and Sensory Neuropathy 2 a 52
Charcot Marie Tooth Disease Type 2a 52
Hmsn Iia 52
Cmt 2a 52

Classifications:



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UMLS 71 C2079538

Summaries for Charcot-Marie-Tooth Disease Type 2a

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2a, also known as charcot-marie-tooth disease, type 2a, is related to tooth disease and peripheral nervous system disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2a is DVL1 (Dishevelled Segment Polarity Protein 1), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include eye, and related phenotype is embryo.

Related Diseases for Charcot-Marie-Tooth Disease Type 2a

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.8 MFN2 KIF1B
2 peripheral nervous system disease 30.2 MFN2 KIF1B
3 charcot-marie-tooth disease, axonal, type 2a1 30.2 MFN2 KIF1B
4 charcot-marie-tooth disease 30.1 MFN2 KIF1B DVL1
5 neuropathy 10.6
6 3-methylglutaconic aciduria, type iii 10.5
7 amyotrophic lateral sclerosis 1 10.4
8 optic atrophy 1 10.4
9 neuropathy, hereditary sensory and autonomic, type iia 10.4
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
11 hydrocephalus 10.4
12 lateral sclerosis 10.4
13 motor neuron disease 10.4
14 muscular atrophy 10.4
15 dysphagia 10.4
16 hydromyelia 10.4
17 charcot-marie-tooth neuropathy type 2a 9.8 MFN2 KIF1B
18 charcot-marie-tooth disease type 2a2a 9.8 MFN2 KIF1B
19 charcot-marie-tooth disease, axonal, type 2j 9.7 MFN2 KIF1B
20 charcot-marie-tooth disease, axonal, type 2l 9.7 MFN2 KIF1B
21 charcot-marie-tooth disease, axonal, type 2i 9.7 MFN2 KIF1B
22 charcot-marie-tooth disease, axonal, type 2n 9.7 MFN2 KIF1B
23 charcot-marie-tooth disease, axonal, type 2f 9.7 MFN2 KIF1B
24 charcot-marie-tooth disease type x 9.7 MFN2 KIF1B
25 charcot-marie-tooth disease, axonal, type 2b 9.7 MFN2 KIF1B
26 charcot-marie-tooth disease, axonal, type 2b2 9.7 MFN2 KIF1B
27 charcot-marie-tooth disease, x-linked dominant, 1 9.7 MFN2 KIF1B
28 charcot-marie-tooth disease, type 4a 9.7 MFN2 KIF1B
29 hereditary motor and sensory neuropathy, type iic 9.7 MFN2 KIF1B
30 charcot-marie-tooth disease, axonal, type 2d 9.7 MFN2 KIF1B
31 charcot-marie-tooth disease, demyelinating, type 1b 9.7 MFN2 KIF1B
32 charcot-marie-tooth disease, type 4c 9.7 MFN2 KIF1B
33 charcot-marie-tooth disease, demyelinating, type 1a 9.7 MFN2 KIF1B
34 neuropathy, hereditary, with liability to pressure palsies 9.6 MFN2 KIF1B
35 hypertrophic neuropathy of dejerine-sottas 9.6 MFN2 KIF1B
36 sensory peripheral neuropathy 9.6 MFN2 KIF1B
37 charcot-marie-tooth disease and deafness 9.6 MFN2 KIF1B
38 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.5 MFN2 KIF1B
39 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 MFN2 KIF1B
40 neuromuscular disease 9.4 MFN2 KIF1B
41 charcot-marie-tooth disease, axonal, type 2e 9.2 MFN2 KIF1B

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



Diseases related to Charcot-Marie-Tooth Disease Type 2a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2a

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.8 DVL1 KIF1B MFN2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2a

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 2a

Genetic tests related to Charcot-Marie-Tooth Disease Type 2a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2a 29

Anatomical Context for Charcot-Marie-Tooth Disease Type 2a

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2a:

40
Eye

Publications for Charcot-Marie-Tooth Disease Type 2a

Articles related to Charcot-Marie-Tooth Disease Type 2a:

(show all 39)
# Title Authors PMID Year
1
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art. 61
30830587 2019
2
Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2. 61
30807887 2019
3
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model. 61
30882371 2019
4
Finding a new balance to cure Charcot-Marie-Tooth 2A. 61
30882369 2019
5
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity. 61
30442897 2018
6
KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth. 61
30126838 2018
7
Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A. 61
30030216 2018
8
Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy. 61
29898954 2018
9
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A. 61
29266326 2018
10
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. 61
29674596 2018
11
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. 61
29215088 2018
12
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient. 61
28076385 2017
13
Correcting mitochondrial fusion by manipulating mitofusin conformations. 61
27775718 2016
14
Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. 61
27907123 2016
15
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives. 61
26143526 2015
16
Disturbed mitochondrial dynamics and neurodegenerative disorders. 61
25486875 2015
17
Mitochondrial dynamic changes in health and genetic diseases. 61
25103020 2014
18
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 61
24957169 2014
19
Insights on altered mitochondrial function and dynamics in the pathogenesis of neurodegeneration. 61
23711354 2013
20
Mitochondrial fusion proteins and human diseases. 61
23781337 2013
21
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. 61
22189565 2012
22
[The role of mitochondrial dynamics in neurodegeneration]. 61
22242401 2011
23
MFN2 mutations cause severe phenotypes in most patients with CMT2A. 61
21508331 2011
24
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. 61
21285398 2011
25
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene. 61
20951041 2011
26
Mitochondrial dynamics in cell death and neurodegeneration. 61
20577776 2010
27
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 61
20418531 2010
28
A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 61
19812251 2009
29
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 61
19427854 2009
30
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 61
16762064 2006
31
Motor neurons rely on motor proteins. 61
15130579 2004
32
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 61
15136675 2004
33
Biochemical and molecular characterization of diseases linked to motor proteins. 61
14559185 2003
34
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. 61
12888911 2003
35
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. 61
12469216 2003
36
Association of the kinesin superfamily motor protein KIF1Balpha with postsynaptic density-95 (PSD-95), synapse-associated protein-97, and synaptic scaffolding molecule PSD-95/discs large/zona occludens-1 proteins. 61
12097473 2002
37
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 61
12062259 2002
38
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 61
11389829 2001
39
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. 61
11148244 2001

Variations for Charcot-Marie-Tooth Disease Type 2a

Expression for Charcot-Marie-Tooth Disease Type 2a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2a.

Pathways for Charcot-Marie-Tooth Disease Type 2a

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

# Super pathways Score Top Affiliating Genes
1 11.15 MFN2 KIF1B
2 10.63 KIF1B DVL1

GO Terms for Charcot-Marie-Tooth Disease Type 2a

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.26 KIF1B DVL1
2 axon GO:0030424 9.16 KIF1B DVL1
3 microtubule GO:0005874 8.96 KIF1B DVL1
4 microtubule cytoskeleton GO:0015630 8.62 MFN2 DVL1

Sources for Charcot-Marie-Tooth Disease Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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