MCID: CHR135
MIFTS: 30

Charcot-Marie-Tooth Disease Type 2a

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Metabolic diseases, Muscle 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 53
Charcot-Marie-Tooth Disease, Type 2a 29 73
Charcot-Marie-Tooth Disease, Neuronal, Type 2a 53
Charcot-Marie-Tooth Disease, Axonal, Type 2a 53
Hereditary Motor and Sensory Neuropathy 2 a 53
Charcot Marie Tooth Disease Type 2a 53
Hmsn Iia 53
Cmt 2a 53

Classifications:



External Ids:

UMLS 73 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 charcot-marie-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 embryo and skeleton

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 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
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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 tooth disease 29.8 KIF1B MFN2
2 charcot-marie-tooth disease 29.4 KIF1B MFN2
3 amyotrophic lateral sclerosis 1 10.2
4 lateral sclerosis 10.2
5 charcot-marie-tooth neuropathy type 2a 9.7 KIF1B MFN2
6 charcot-marie-tooth disease, axonal, type 2a1 9.6 KIF1B MFN2
7 neuropathy, hereditary, with liability to pressure palsies 9.6 KIF1B MFN2
8 motor peripheral neuropathy 9.6 KIF1B MFN2
9 charcot-marie-tooth disease, demyelinating, type 1a 9.6 KIF1B MFN2
10 hereditary motor and sensory neuropathy, type iic 9.6 KIF1B MFN2
11 charcot-marie-tooth disease, axonal, type 2k 9.5 KIF1B MFN2
12 charcot-marie-tooth disease and deafness 9.5 KIF1B MFN2
13 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.4 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2e 9.3 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.13 DVL1 KIF1B MFN2
2 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 HIV Protease Inhibitors
4 Matrix Metalloproteinase 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 Not yet 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 29

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
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. ( 29674596 )
2018
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 )
2017
4
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. ( 24957169 )
2014
5
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
6
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. ( 19427854 )
2009
7
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. ( 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 11.15 KIF1B MFN2
2 10.3 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 microtubule GO:0005874 9.16 DVL1 KIF1B
4 axon GO:0030424 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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