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

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


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 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 response59
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 pathway59
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 processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
9.1IL6, TNF
129.1TNF, IL6
13
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
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 pathway59
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response59
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
1tocilizumab44 1110.6TNF, IL6
2abatacept44 1110.6TNF, IL6
3cdp571449.6IL6, TNF
4tenidap44 2810.6TNF, IL6
5anakinra44 1110.6IL6, TNF
6taurine chloramine449.6TNF, IL6
7vesnarinone449.6IL6, TNF
8gabexate mesilate449.6IL6, TNF
9ulinastatin449.6TNF, IL6
10mip 1alpha449.6TNF, IL6
11il-12449.6TNF, IL6
12adalimumab44 50 1111.6TNF, IL6
13tpck449.6TNF, IL6
14imiquimod44 60 28 1112.5IL6, TNF
15polymyxin b449.5TNF, IL6
16okt3449.5TNF, IL6
17groalpha449.5TNF, IL6
18leflunomide44 50 1111.5IL6, TNF
19triptolide449.5TNF, IL6
20gm-csf44 2810.5IL6, TNF
21ciglitazone44 2810.5TNF, IL6
22parthenolide44 110.5TNF, IL6
23lipoteichoic acid449.5IL6, TNF
248-isoprostane449.5TNF, IL6
25polyinosinic-polycytidylic acid449.5IL6, TNF
262,5-oligoadenylate449.5TNF, IL6
27etanercept44 50 1111.5TNF, IL6
28poly(i-c)449.5TNF, IL6
29il 10449.5IL6, TNF
30infliximab44 50 1111.5TNF, IL6
31fenofibrate44 50 1111.5TNF, IL6
32peptidoglycan44 2810.5IL6, TNF
33ivig449.5IL6, TNF
34pentoxifylline44 1110.4TNF, IL6
35ccl344 2810.4TNF, IL6
36melphalan44 50 1111.4TNF, IL6
37neopterin449.4TNF, IL6
3815-deoxy-delta-12,14-prostaglandin j2449.4TNF, IL6
39rituximab44 50 1111.4IL6, TNF
40pioglitazone28 44 50 1112.4IL6, TNF
41pdtc449.4IL6, TNF
42anisomycin44 1110.3IL6, TNF
43thalidomide44 50 60 1112.3IL6, TNF
44leukotriene b444 60 2411.3IL6, TNF
45sp 60012544 6010.2TNF, IL6
46atorvastatin44 50 28 24 1113.2TNF, IL6
47prednisolone44 28 1111.1TNF, IL6
48troglitazone44 28 60 1112.1IL6, TNF
49hydrocortisone44 1 60 1112.0TNF, IL6
50rosiglitazone28 44 50 24 1112.8TNF, IL6

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

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet