MCID: CHR115
MIFTS: 44

Charcot-Marie-Tooth Neuropathy Type 2a malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Fetal diseases, Ear diseases categories

Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

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20GeneReviews, 34MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditarymotor sensory neuropathy iia, is related to obesity and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2a is MFN2 (mitofusin 2), and among its related pathways are Amyotrophic lateral sclerosis (ALS) and TNF signaling pathway. The compounds tocilizumab and abatacept have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and nervous system.

GeneReviews summary for cmt2a

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

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20GeneReviews, 21GeneTests
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth neuropathy type 2a 20 21
hereditarymotor sensory neuropathy iia 20
hmsniia 20
hmsn2a 20
cmt2a 20


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

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18GeneCards, 19GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease Type 2
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2 charcot-marie-tooth neuropathy type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h 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 Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
Charcot-Marie-Tooth Disease Type 1a Charcot-Marie-Tooth Disease Type 1b
Charcot-Marie-Tooth Disease Type 1c Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease Type 1e Charcot-Marie-Tooth Disease Type 1f
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2b
Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Type 2b2
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2d
Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 4b1
Charcot-Marie-Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease Type 4e
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4e
Charcot-Marie-Tooth Neuropathy Type 4f Charcot-Marie-Tooth Neuropathy Type 1a
Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Disease, Type 2a1
Charcot-Marie-Tooth Disease, Type 2a2 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 4b3
Surf1-Related Charcot-Marie-Tooth Disease Type 4

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1obesity30.7IL6, TNF, MFN2
2charcot-marie-tooth disease30.4MFN2, KIF1B
3neuropathy10.9
4charcot-marie-tooth disease type 210.3
5tooth disease10.3
6crohn's disease10.1TNF
7skin disease10.1IL6
8charcot-marie-tooth neuropathy type 210.0KIF1B, MFN2
9polyneuropathy10.0
10spastic paraplegia 10, autosomal dominant10.0
11autosomal dominant charcot-marie-tooth disease type 210.0
12chorioamnionitis10.0IL6, TNF
13arthritis10.0IL6, TNF
14juvenile rheumatoid arthritis10.0TNF, IL6
15adult respiratory distress syndrome10.0TNF, IL6
16respiratory failure10.0IL6, TNF
17peritonitis10.0TNF, IL6
18periodontitis10.0TNF, IL6
19synovitis10.0IL6, TNF
20monocytic leukemia10.0TNF, IL6
21connective tissue disease10.0IL6, TNF
22periodontal disease10.0IL6, TNF
23hypersensitivity reaction type ii disease10.0TNF, IL6
24septic shock10.0TNF, IL6
25galactosemia10.0IL6, TNF
26congenital heart disease10.0IL6, TNF
27primary hyperoxaluria10.0IL6, TNF
28pulmonary disease, chronic obstructive9.9IL6, TNF

Graphical network of the top 20 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Neuropathy Type 2a

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Neuropathy Type 2a

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

Search CenterWatch for Charcot-Marie-Tooth Neuropathy Type 2a

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

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21GeneTests
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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 2a21 MFN2

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

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34MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 2a:

34
Skeletal muscle

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

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38MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 2a:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1KIF1B, IL6, TNF, MFN2
2MP:00036318.1KIF1B, IL6, TNF, MFN2
3MP:00053908.0MFN2, TNF, IL6, KIF1B
4MP:00053867.8MFN2, TNF, IL6, KIF1B

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

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53PubMed
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Articles related to Charcot-Marie-Tooth Neuropathy Type 2a:

idTitleAuthorsYear
1
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. (22526351)
2012
2
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. (20418531)
2010
3
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). (16762064)
2006
4
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (15549395)
2005
5
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
6
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. (15064763)
2004
7
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 2a

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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Sources:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 55R&D Systems
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Pathways related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.4TOMM40, TNF
29.1IL6, TNF
39.1IL6, TNF
49.1TNF, IL6
59.1IL6, TNF
6
Show member pathways
Immune response MIF in innate immunity response61
9.1IL6, TNF
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.1TNF, IL6
89.1IL6, TNF
99.1IL6, TNF
10
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
9.1IL6, TNF
11
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.1IL6, TNF
129.1TNF, IL6
13
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.1IL6, TNF
14
Show member pathways
9.1IL6, TNF
15
Show member pathways
thioredoxin pathway39
9.1IL6, TNF
169.1TNF, IL6
179.1IL6, TNF
189.1TNF, IL6
199.1IL6, TNF
209.1IL6, TNF
219.1IL6, TNF
229.1TNF, IL6
239.1IL6, TNF
249.1IL6, TNF
259.1TNF, IL6
269.1IL6, TNF
27
Show member pathways
IL27-mediated signaling events39
9.1TNF, IL6
28
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
9.1TNF, IL6

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

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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience, 3BitterDB, 25HMDB
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1tocilizumab46 1210.6IL6, TNF
2abatacept46 1210.6IL6, TNF
3cdp571469.6IL6, TNF
4tenidap46 3010.6TNF, IL6
5anakinra46 1210.6IL6, TNF
6vesnarinone469.6TNF, IL6
7taurine chloramine469.6TNF, IL6
8gabexate mesilate469.6IL6, TNF
9ulinastatin469.6IL6, TNF
10mip 1alpha469.6TNF, IL6
11il-12469.6IL6, TNF
12adalimumab46 52 1211.6IL6, TNF
13imiquimod46 62 30 1212.6TNF, IL6
14tpck469.5TNF, IL6
15polymyxin b469.5IL6, TNF
16groalpha469.5TNF, IL6
17leflunomide46 52 1211.5TNF, IL6
18okt3469.5TNF, IL6
19gm-csf46 3010.5TNF, IL6
20triptolide469.5TNF, IL6
21ciglitazone46 3010.5IL6, TNF
22parthenolide46 310.5IL6, TNF
23lipoteichoic acid469.5TNF, IL6
248-isoprostane469.5IL6, TNF
252,5-oligoadenylate469.5TNF, IL6
26polyinosinic-polycytidylic acid469.5TNF, IL6
27etanercept46 52 1211.5IL6, TNF
28poly(i-c)469.5IL6, TNF
29il 10469.5TNF, IL6
30infliximab46 52 1211.5IL6, TNF
31fenofibrate46 52 1211.5TNF, IL6
32peptidoglycan46 3010.5TNF, IL6
33ivig469.5IL6, TNF
34ccl346 3010.4TNF, IL6
35pentoxifylline46 1210.4TNF, IL6
36melphalan46 52 1211.4IL6, TNF
37neopterin469.4IL6, TNF
3815-deoxy-delta-12,14-prostaglandin j2469.4TNF, IL6
39rituximab46 52 1211.4IL6, TNF
40pioglitazone30 46 52 1212.4IL6, TNF
41pdtc469.4TNF, IL6
42anisomycin46 1210.3IL6, TNF
43thalidomide46 52 62 1212.3IL6, TNF
44leukotriene b446 62 2511.3TNF, IL6
45sp 60012546 6210.2IL6, TNF
46atorvastatin46 52 30 25 1213.2TNF, IL6
47prednisolone46 30 1211.1TNF, IL6
48troglitazone46 30 62 1212.1IL6, TNF
49hydrocortisone46 3 62 1212.0IL6, TNF
50rosiglitazone30 46 52 25 1212.8IL6, TNF

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

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17Gene Ontology
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Biological processes related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to mitochondrionGO:0066269.7MFN2, TOMM40
2negative regulation of lipid storageGO:0108889.4IL6, TNF
3epithelial cell proliferation involved in salivary gland morphogenesisGO:0606649.4IL6, TNF
4positive regulation of chemokine productionGO:0327229.4IL6, TNF
5positive regulation of nitric oxide biosynthetic processGO:0454299.4IL6, TNF
6defense response to Gram-positive bacteriumGO:0508309.4TNF, IL6
7negative regulation of fat cell differentiationGO:0455999.4IL6, TNF
8positive regulation of interleukin-6 productionGO:0327559.4IL6, TNF
9positive regulation of smooth muscle cell proliferationGO:0486619.4IL6, TNF
10positive regulation of peptidyl-serine phosphorylationGO:0331389.3IL6, TNF
11response to mechanical stimulusGO:0096129.3IL6, TNF
12humoral immune responseGO:0069599.2IL6, TNF
13positive regulation of protein kinase B signalingGO:0518979.2TNF, IL6
14response to glucocorticoidGO:0513849.1IL6, TNF
15positive regulation of NF-kappaB transcription factor activityGO:0510929.1IL6, TNF
16positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.0IL6, TNF
17positive regulation of ERK1 and ERK2 cascadeGO:0703748.8IL6, TNF

Molecular functions related to Charcot-Marie-Tooth Neuropathy Type 2a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.1IL6, TNF

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

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  • Antibodies
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Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet