MCID: CHR115
MIFTS: 25

Charcot-Marie-Tooth Neuropathy Type 2a malady

Categories: Genetic diseases (common), Neuronal diseases, Ear 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 23 24
Hmsniia 23 24
Hmsn2a 23 24
Cmt2a 23 24
 
Hereditary and Motor Sensory Neuropathy Iia 24
Hereditarymotor Sensory Neuropathy Iia 23
Cmt 2a 24

Characteristics:

GeneReviews:

23
Penetrance: the penetrance is considered to be complete. some individuals with mfn2 mutations are asymptomatic and have only mild findings on examination; in these cases, however, the disease may prove to be late onset [lawson et al 2005]...


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 is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include skeletal muscle.

GeneReviews 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 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2a210.9
2charcot-marie-tooth disease type 2a10.9
3spastic paraplegia 10, autosomal dominant10.9
4neuropathy10.6
5charcot-marie-tooth neuropathy10.6
6obesity10.2
7charcot-marie-tooth disease10.0
8tooth disease10.0
9charcot-marie-tooth disease type 2f9.7KIF1B, MFN2
10trachea leiomyoma9.6KIF1B, MFN2
11charcot-marie-tooth disease, type 1b9.6KIF1B, MFN2
12thrombophilia due to antithrombin iii deficiency9.6KIF1B, MFN2
13charcot-marie-tooth disease, type 1f9.6KIF1B, MFN2
14neuropathy, congenital hypomyelinating9.5KIF1B, MFN2
15charcot-marie-tooth neuropathy dominant intermediate f9.5KIF1B, MFN2
16amnestic disorder9.4KIF1B, MFN2
17childhood-onset cerebral x-linked adrenoleukodystrophy9.2KIF1B, 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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Drugs for Charcot-Marie-Tooth Neuropathy Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitors5320
Synonyms:
 
protease inhibitors
2Matrix Metalloproteinase Inhibitors18
3HIV Protease Inhibitors5319
44-des-dimethylaminotetracycline8

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 2a24 KIF1B, MFN2

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

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

35
Skeletal muscle

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

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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
19.0KIF1B, 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:00057419.6MFN2, TOMM40
2mitochondrionGO:00057398.5KIF1B, MFN2, TOMM40

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

idNameGO IDScoreTop Affiliating Genes
1macroautophagyGO:00162369.8MFN2, TOMM40
2protein targeting to mitochondrionGO:00066269.0MFN2, TOMM40
3apoptotic processGO:00069159.0KIF1B, MFN2

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet