MCID: CHR115
MIFTS: 44

Charcot-Marie-Tooth Neuropathy Type 2a malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Fetal diseases, Ear diseases categories
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Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

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19GeneReviews, 33MalaCards
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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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19GeneReviews, 20GeneTests
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth neuropathy type 2a 19 20
hereditarymotor sensory neuropathy iia 19
hmsniia 19
hmsn2a 19
cmt2a 19


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

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

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

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

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20GeneTests
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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 2a20 MFN2

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

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33MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 2a:

33
Skeletal muscle

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

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37MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 2a:

37
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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52PubMed
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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, 15Gene 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:
50PathCards, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 54R&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)38
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 response60
9.1IL6, TNF
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1TNF, IL6
89.1IL6, TNF
99.1IL6, TNF
10
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
9.1IL6, TNF
11
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.1IL6, TNF
129.1TNF, IL6
13
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.1IL6, TNF
14
Show member pathways
9.1IL6, TNF
15
Show member pathways
thioredoxin pathway38
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 events38
9.1TNF, IL6
28
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.1TNF, IL6

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

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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience, 3BitterDB, 24HMDB
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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
1tocilizumab45 1110.6IL6, TNF
2abatacept45 1110.6IL6, TNF
3cdp571459.6IL6, TNF
4tenidap45 2910.6TNF, IL6
5anakinra45 1110.6IL6, TNF
6vesnarinone459.6TNF, IL6
7taurine chloramine459.6TNF, IL6
8gabexate mesilate459.6IL6, TNF
9ulinastatin459.6IL6, TNF
10mip 1alpha459.6TNF, IL6
11il-12459.6IL6, TNF
12adalimumab45 51 1111.6IL6, TNF
13imiquimod45 61 29 1112.6TNF, IL6
14tpck459.5TNF, IL6
15polymyxin b459.5IL6, TNF
16groalpha459.5TNF, IL6
17leflunomide45 51 1111.5TNF, IL6
18okt3459.5TNF, IL6
19gm-csf45 2910.5TNF, IL6
20triptolide459.5TNF, IL6
21ciglitazone45 2910.5IL6, TNF
22parthenolide45 310.5IL6, TNF
23lipoteichoic acid459.5TNF, IL6
248-isoprostane459.5IL6, TNF
252,5-oligoadenylate459.5TNF, IL6
26polyinosinic-polycytidylic acid459.5TNF, IL6
27etanercept45 51 1111.5IL6, TNF
28poly(i-c)459.5IL6, TNF
29il 10459.5TNF, IL6
30infliximab45 51 1111.5IL6, TNF
31fenofibrate45 51 1111.5TNF, IL6
32peptidoglycan45 2910.5TNF, IL6
33ivig459.5IL6, TNF
34ccl345 2910.4TNF, IL6
35pentoxifylline45 1110.4TNF, IL6
36melphalan45 51 1111.4IL6, TNF
37neopterin459.4IL6, TNF
3815-deoxy-delta-12,14-prostaglandin j2459.4TNF, IL6
39rituximab45 51 1111.4IL6, TNF
40pioglitazone29 45 51 1112.4IL6, TNF
41pdtc459.4TNF, IL6
42anisomycin45 1110.3IL6, TNF
43thalidomide45 51 61 1112.3IL6, TNF
44leukotriene b445 61 2411.3TNF, IL6
45sp 60012545 6110.2IL6, TNF
46atorvastatin45 51 29 24 1113.2TNF, IL6
47prednisolone45 29 1111.1TNF, IL6
48troglitazone45 29 61 1112.1IL6, TNF
49hydrocortisone45 3 61 1112.0IL6, TNF
50rosiglitazone29 45 51 24 1112.8IL6, TNF

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

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16Gene 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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Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet