MCID: CHR115
MIFTS: 33

Charcot-Marie-Tooth Neuropathy Type 2a malady

Genetic diseases, Neuronal diseases, Rare diseases categories

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

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

Name: Charcot-Marie-Tooth Neuropathy Type 2a 19 20
Hereditarymotor Sensory Neuropathy Iia 19
Hmsniia 19
 
Hmsn2a 19
Cmt2a 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditarymotor sensory neuropathy iia, is related to charcot-marie-tooth disease and obesity. 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

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

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Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

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
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 4b2
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 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Type 2o Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 4f

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease30.6MFN2, KIF1B
2obesity30.5IL6, TNF, MFN2
3neuropathy10.9
4crohn's disease10.3TNF
5tooth disease10.3
6skin disease10.2IL6
7charcot-marie-tooth disease, type 2e10.1KIF1B, MFN2
8spastic paraplegia 10, autosomal dominant10.0
9polyneuropathy10.0
10chorioamnionitis10.0IL6, TNF
11arthritis10.0IL6, TNF
12juvenile rheumatoid arthritis10.0TNF, IL6
13acute respiratory distress syndrome10.0TNF, IL6
14respiratory failure10.0IL6, TNF
15peritonitis10.0TNF, IL6
16periodontitis10.0TNF, IL6
17synovitis10.0IL6, TNF
18monocytic leukemia10.0TNF, IL6
19connective tissue disease9.9IL6, TNF
20periodontal disease9.9IL6, TNF
21hypersensitivity reaction type ii disease9.9TNF, IL6
22liver disease9.9IL6, TNF
23colitis9.9IL6, TNF
24congenital heart disease9.9IL6, TNF
25kidney disease9.8IL6, TNF
26pulmonary disease, chronic obstructive9.7IL6, 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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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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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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MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 2a:

31
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:

35
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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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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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:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)36
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 response58
9.1IL6, TNF
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.1TNF, IL6
89.1IL6, TNF
99.1IL6, TNF
10
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
9.1IL6, TNF
11
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.1IL6, TNF
129.1TNF, IL6
13
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.1IL6, TNF
14
Show member pathways
9.1IL6, TNF
15
Show member pathways
thioredoxin pathway36
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 events36
9.1TNF, IL6
28
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.1TNF, IL6

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

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

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1tocilizumab43 1210.6IL6, TNF
2abatacept43 1210.6IL6, TNF
3cdp571439.6IL6, TNF
4tenidap43 2810.6TNF, IL6
5anakinra43 1210.6IL6, TNF
6vesnarinone439.6TNF, IL6
7taurine chloramine439.6TNF, IL6
8gabexate mesilate439.6IL6, TNF
9ulinastatin439.6IL6, TNF
10mip 1alpha439.6TNF, IL6
11il-12439.6IL6, TNF
12adalimumab43 49 1211.6IL6, TNF
13imiquimod43 59 28 1212.6TNF, IL6
14tpck439.5TNF, IL6
15polymyxin b439.5IL6, TNF
16groalpha439.5TNF, IL6
17leflunomide43 49 1211.5TNF, IL6
18okt3439.5TNF, IL6
19gm-csf43 2810.5TNF, IL6
20triptolide439.5TNF, IL6
21ciglitazone43 2810.5IL6, TNF
22parthenolide43 210.5IL6, TNF
23lipoteichoic acid439.5TNF, IL6
248-isoprostane439.5IL6, TNF
252,5-oligoadenylate439.5TNF, IL6
26polyinosinic-polycytidylic acid439.5TNF, IL6
27etanercept43 49 1211.5IL6, TNF
28poly(i-c)439.5IL6, TNF
29il 10439.5TNF, IL6
30infliximab43 49 1211.5IL6, TNF
31fenofibrate43 49 1211.5TNF, IL6
32peptidoglycan43 2810.5TNF, IL6
33ivig439.5IL6, TNF
34ccl343 2810.4TNF, IL6
35pentoxifylline43 1210.4TNF, IL6
36melphalan43 49 1211.4IL6, TNF
37neopterin439.4IL6, TNF
3815-deoxy-delta-12,14-prostaglandin j2439.4TNF, IL6
39rituximab43 49 1211.4IL6, TNF
40pioglitazone28 43 49 1212.4IL6, TNF
41pdtc439.4TNF, IL6
42anisomycin43 1210.3IL6, TNF
43thalidomide43 49 59 1212.3IL6, TNF
44leukotriene b443 59 2411.3TNF, IL6
45sp 60012543 5910.2IL6, TNF
46atorvastatin43 49 28 24 1213.2TNF, IL6
47prednisolone43 28 1211.1TNF, IL6
48troglitazone43 28 59 1212.1IL6, TNF
49hydrocortisone43 2 59 1212.0IL6, TNF
50rosiglitazone28 43 49 24 1212.8IL6, TNF

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

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to mitochondrionGO:00066269.7MFN2, TOMM40
2negative regulation of lipid storageGO:00108889.4IL6, TNF
3epithelial cell proliferation involved in salivary gland morphogenesisGO:00606649.4IL6, TNF
4positive regulation of chemokine productionGO:00327229.4IL6, TNF
5positive regulation of nitric oxide biosynthetic processGO:00454299.4IL6, TNF
6defense response to Gram-positive bacteriumGO:00508309.4TNF, IL6
7negative regulation of fat cell differentiationGO:00455999.4IL6, TNF
8positive regulation of interleukin-6 productionGO:00327559.4IL6, TNF
9positive regulation of smooth muscle cell proliferationGO:00486619.4IL6, TNF
10positive regulation of peptidyl-serine phosphorylationGO:00331389.3IL6, TNF
11response to mechanical stimulusGO:00096129.3IL6, TNF
12humoral immune responseGO:00069599.2IL6, TNF
13positive regulation of protein kinase B signalingGO:00518979.2TNF, IL6
14response to glucocorticoidGO:00513849.1IL6, TNF
15positive regulation of NF-kappaB transcription factor activityGO:00510929.1IL6, TNF
16positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.0IL6, TNF
17positive regulation of ERK1 and ERK2 cascadeGO:00703748.8IL6, TNF

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.1IL6, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet