MCID: CHR135
MIFTS: 23

Charcot-Marie-Tooth Disease Type 2a

Categories: Ear diseases, 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 20
Charcot-Marie-Tooth Disease, Type 2a 29 70
Charcot-Marie-Tooth Disease, Neuronal, Type 2a 20
Charcot-Marie-Tooth Disease, Axonal, Type 2a 20
Hereditary Motor and Sensory Neuropathy 2 a 20
Charcot Marie Tooth Disease Type 2a 20
Hmsn Iia 20
Cmt 2a 20

Classifications:



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UMLS 70 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 charcot-marie-tooth disease and tooth 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 26)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.3 MFN2 KIF1B DVL1
2 tooth disease 30.3 MFN2 KIF1B DVL1
3 peripheral nervous system disease 30.1 MFN2 KIF1B
4 mfn2 hereditary motor and sensory neuropathy 30.1 MFN2 KIF1B
5 charcot-marie-tooth disease, axonal, type 2a1 30.0 MFN2 KIF1B
6 charcot-marie-tooth disease, axonal, type 2e 29.8 MFN2 KIF1B
7 neuropathy 10.6
8 3-methylglutaconic aciduria, type iii 10.4
9 amyotrophic lateral sclerosis 1 10.3
10 optic atrophy 1 10.3
11 hydrocephalus 10.3
12 optic nerve disease 10.3
13 lateral sclerosis 10.3
14 motor neuron disease 10.3
15 muscular atrophy 10.3
16 dysphagia 10.3
17 hydromyelia 10.3
18 charcot-marie-tooth disease, axonal, type 2l 9.8 MFN2 KIF1B
19 charcot-marie-tooth disease, axonal, type 2f 9.8 MFN2 KIF1B
20 charcot-marie-tooth disease, type 4a 9.8 MFN2 KIF1B
21 charcot-marie-tooth disease, axonal, type 2b 9.7 MFN2 KIF1B
22 charcot-marie-tooth disease, axonal, type 2b2 9.7 MFN2 KIF1B
23 hypertrophic neuropathy of dejerine-sottas 9.7 MFN2 KIF1B
24 charcot-marie-tooth disease and deafness 9.7 MFN2 KIF1B
25 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.7 MFN2 KIF1B
26 neuromuscular disease 9.6 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:

46
# 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 46)
# Title Authors PMID Year
1
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. 61
33415332 2020
2
Animal Models of CMT2A: State-of-art and Therapeutic Implications. 61
32856204 2020
3
Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot-Marie-Tooth Disease Type 2A. 61
33110000 2020
4
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. 61
33074106 2020
5
Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases. 61
32506913 2020
6
Optic Neuropathy in Charcot-Marie-Tooth Disease. 61
32441898 2020
7
Mitofusin 2 Dysfunction and Disease in Mice and Men. 61
32733278 2020
8
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art. 61
30830587 2019
9
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
10
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model. 61
30882371 2019
11
Finding a new balance to cure Charcot-Marie-Tooth 2A. 61
30882369 2019
12
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity. 61
30442897 2018
13
KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth. 61
30126838 2018
14
Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy. 61
29898954 2018
15
Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A. 61
30030216 2018
16
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A. 61
29266326 2018
17
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. 61
29674596 2018
18
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. 61
29215088 2018
19
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
20
Correcting mitochondrial fusion by manipulating mitofusin conformations. 61
27775718 2016
21
Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. 61
27907123 2016
22
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives. 61
26143526 2015
23
Disturbed mitochondrial dynamics and neurodegenerative disorders. 61
25486875 2015
24
Mitochondrial dynamic changes in health and genetic diseases. 61
25103020 2014
25
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 61
24957169 2014
26
Insights on altered mitochondrial function and dynamics in the pathogenesis of neurodegeneration. 61
23711354 2013
27
Mitochondrial fusion proteins and human diseases. 61
23781337 2013
28
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. 61
22189565 2012
29
[The role of mitochondrial dynamics in neurodegeneration]. 61
22242401 2011
30
MFN2 mutations cause severe phenotypes in most patients with CMT2A. 61
21508331 2011
31
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. 61
21285398 2011
32
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
33
Mitochondrial dynamics in cell death and neurodegeneration. 61
20577776 2010
34
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 61
20418531 2010
35
A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 61
19812251 2009
36
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. 61
19427854 2009
37
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 61
16762064 2006
38
Motor neurons rely on motor proteins. 61
15130579 2004
39
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. 61
15136675 2004
40
Biochemical and molecular characterization of diseases linked to motor proteins. 61
14559185 2003
41
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. 61
12888911 2003
42
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. 61
12469216 2003
43
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
44
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 61
12062259 2002
45
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 61
11389829 2001
46
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 dendrite GO:0030425 9.32 KIF1B DVL1
2 neuron projection GO:0043005 9.26 KIF1B DVL1
3 axon GO:0030424 9.16 KIF1B DVL1
4 microtubule GO:0005874 8.96 KIF1B DVL1
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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