MCID: CHR115
MIFTS: 26

Charcot-Marie-Tooth Neuropathy Type 2a malady

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Rare diseases, Mental diseases

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

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Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy Type 2a:

Name: Charcot-Marie-Tooth Neuropathy Type 2a 21 22
Hmsniia 21 22
Hmsn2a 21 22
Cmt2a 21 22
 
Hereditary and Motor Sensory Neuropathy Iia 22
Hereditarymotor Sensory Neuropathy Iia 21
Cmt 2a 22

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 2a, also known as hmsniia, is related to charcot-marie-tooth disease, type 2a2 and charcot-marie-tooth disease type 2a. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2a is MFN2 (Mitofusin 2), and among its related pathways are Pink/Parkin Mediated Mitophagy and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include bone, kidney and breast.

GeneReviews summary for NBK1511

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

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Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
charcot-marie-tooth neuropathy type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4 Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2n
Charcot-Marie-Tooth Neuropathy Type 2o Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 4f Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Charcot-Marie-Tooth Neuropathy X Type 6 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2a211.0
2charcot-marie-tooth disease type 2a11.0
3neuropathy10.8
4charcot-marie-tooth neuropathy10.8
5obesity10.3
6charcot-marie-tooth disease10.1
7tooth disease10.1
8spastic paraplegia 10, autosomal dominant10.0
9charcot-marie-tooth disease type 2c9.7KIF1B, MFN2
10central nervous system origin vertigo9.6KIF1B, MFN2
11charcot-marie-tooth disease, type 1b9.6KIF1B, MFN2
12adrenocorticotropic hormone deficiency9.6KIF1B, MFN2
13charcot-marie-tooth disease, type 1f9.6KIF1B, MFN2
14neuropathy, congenital hypomyelinating9.5KIF1B, MFN2
15charcot-marie-tooth neuropathy type 19.4KIF1B, MFN2
16childhood type dermatomyositis9.4KIF1B, MFN2
17charcot-marie-tooth neuropathy dominant intermediate e9.3KIF1B, MFN2
18charcot-marie-tooth neuropathy type 2e/1f9.2KIF1B, MFN2, TOMM40
19benign essential hypertension9.2KIF1B, MFN2

Graphical network of diseases related to Charcot-Marie-Tooth Neuropathy Type 2a:



Diseases related to charcot-marie-tooth neuropathy type 2a

Symptoms for Charcot-Marie-Tooth Neuropathy Type 2a

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 2a

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2a22 MFN2, KIF1B

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

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

33
Bone, Kidney, Breast, Endothelial, Skeletal muscle

Animal Models for Charcot-Marie-Tooth Neuropathy Type 2a or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

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

idTitleAuthorsYear
1
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. (26307494)
2015
2
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. (22526351)
2012
3
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. (20418531)
2010
4
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). (16762064)
2006
5
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (15549395)
2005
6
Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6. (16123358)
2005
7
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. (15064763)
2004
8
Charcot-Marie-Tooth Neuropathy Type 2A (20301684)
1993

Variations for Charcot-Marie-Tooth Neuropathy Type 2a

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Expression for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2a

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

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2a

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3MFN2, TOMM40
29.0KIF1B, MFN2

GO Terms for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2a

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.3MFN2, TOMM40

Biological processes related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apoptotic processGO:00069159.0KIF1B, MFN2

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet