MCID: CHR135
MIFTS: 31

Charcot-Marie-Tooth Disease Type 2a

Categories: Genetic diseases, Metabolic diseases, Muscle 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 54
Charcot-Marie-Tooth Disease, Type 2a 30 74
Charcot-Marie-Tooth Disease, Neuronal, Type 2a 54
Charcot-Marie-Tooth Disease, Axonal, Type 2a 54
Hereditary Motor and Sensory Neuropathy 2 a 54
Charcot Marie Tooth Disease Type 2a 54
Hmsn Iia 54
Cmt 2a 54

Classifications:



External Ids:

UMLS 74 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 G-protein signaling_Regulation of RAC1 activity. The drugs protease inhibitors and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and 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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 14)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.9 KIF1B MFN2
2 tooth disease 30.9 KIF1B MFN2
3 charcot-marie-tooth disease, axonal, type 2a1 30.2 KIF1B MFN2
4 amyotrophic lateral sclerosis 1 10.4
5 lateral sclerosis 10.4
6 charcot-marie-tooth neuropathy type 2a 9.8 KIF1B MFN2
7 motor peripheral neuropathy 9.8 KIF1B MFN2
8 charcot-marie-tooth disease, demyelinating, type 1a 9.8 KIF1B MFN2
9 neuropathy, hereditary, with liability to pressure palsies 9.8 KIF1B MFN2
10 hereditary motor and sensory neuropathy, type iic 9.7 KIF1B MFN2
11 charcot-marie-tooth disease, axonal, type 2k 9.7 KIF1B MFN2
12 charcot-marie-tooth disease and deafness 9.7 KIF1B MFN2
13 peripheral nervous system disease 9.6 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2e 9.5 KIF1B MFN2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.33 DVL1 KIF1B MFN2
2 embryo MP:0005380 9.13 DVL1 KIF1B MFN2
3 skeleton MP:0005390 8.8 DVL1 KIF1B MFN2

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

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
2 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting NCT01193075
3 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

Search 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 30

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

Publications for Charcot-Marie-Tooth Disease Type 2a

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

# Title Authors Year
1
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. ( 30807887 )
2019
2
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease. ( 29215088 )
2018
3
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A. ( 29266326 )
2018
4
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. ( 29674596 )
2018
5
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. ( 24957169 )
2014
6
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. ( 20951041 )
2011
7
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. ( 19427854 )
2009
8
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. ( 11389829 )
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 11.35 KIF1B MFN2
2 10.64 DVL1 KIF1B
3 10.63 DVL1 KIF1B

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 DVL1 KIF1B
2 neuron projection GO:0043005 9.26 DVL1 KIF1B
3 axon GO:0030424 9.16 DVL1 KIF1B
4 microtubule GO:0005874 8.96 DVL1 KIF1B
5 microtubule cytoskeleton GO:0015630 8.62 DVL1 MFN2

Sources for Charcot-Marie-Tooth Disease Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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