MCID: CHR115
MIFTS: 24

Charcot-Marie-Tooth Neuropathy Type 2a malady

Neuronal category

Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditarymotor sensory neuropathy iia, is related to tooth disease and autosomal dominant disease. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2a is MFN2 (mitofusin 2), and among its related pathways are Pathogenesis of ALS and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds tocilizumab and abatacept have been mentioned in the context of this disorder. Related mouse phenotypes are skeleton and muscle.

GeneReviews summary for cmt2a

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

Sources:
19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


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

Sources:
17GeneCards, 18GeneDecks
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Diseases in the charcot-marie-tooth disease family:

charcot-marie-tooth disease type 2 charcot-marie-tooth disease type 1
charcot-marie-tooth disease type x charcot-marie-tooth disease intermediate type
charcot-marie-tooth disease type 4 charcot-marie-tooth disease type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease10.3
2autosomal dominant disease10.0
3autosomal genetic disease10.0
4spastic paraplegia 10, autosomal dominant10.0
5neuropathy10.0MFN2
6pheochromocytoma10.0KIF1B
7toxic shock syndrome10.0TNF
8poems syndrome10.0IL6
9axonal neuropathy10.0KIF1B
10coronary heart disease10.0IL6
11charcot-marie-tooth neuropathy type 210.0KIF1B, MFN2
12charcot-marie-tooth disease10.0KIF1B, MFN2
13arthritis10.0IL6, TNF
14endometriosis10.0IL6
15juvenile rheumatoid arthritis10.0TNF, IL6
16adult respiratory distress syndrome10.0TNF, IL6
17periodontitis10.0IL6, TNF
18periodontal disease10.0IL6, TNF
19chorioamnionitis10.0IL6, TNF

Graphical network of diseases related to Charcot-Marie-Tooth Neuropathy Type 2a:



Diseases related to charcot-marie-tooth neuropathy type 2a

Clinical Features for Charcot-Marie-Tooth Neuropathy Type 2a

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 2a

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1KIF1B, IL6, MFN2, TNF
2MP:00053697.8KIF1B, IL6, MFN2, TNF

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

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

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 53R&D Systems
See all sources

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4TNF, TOMM40
2
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.1IL6, TNF
3
Hide members
9.1IL6, TNF
4
Immune response Bacterial infections in normal airways
9.1IL6, TNF
59.1IL6, TNF
69.1TNF, IL6
79.1IL6, TNF
89.1IL6, TNF
99.1IL6, TNF
109.1TNF, IL6
119.1TNF, IL6
129.1IL6, TNF

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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1tocilizumab45 1110.6IL6, TNF
2abatacept45 1110.6IL6, TNF
3cdp571459.6IL6, TNF
4tenidap45 2910.5TNF, IL6
5anakinra45 1110.5IL6, TNF
6taurine chloramine459.5TNF, IL6
7vesnarinone459.5TNF, IL6
8gabexate mesilate459.5IL6, TNF
9ulinastatin459.5IL6, TNF
10mip 1alpha459.5IL6, TNF
11adalimumab45 50 1111.5TNF, IL6
12il-12459.5IL6, TNF
13imiquimod45 29 60 1112.5TNF, IL6
14tpck459.5TNF, IL6
15polymyxin b459.5IL6, TNF
16groalpha459.5TNF, IL6
17leflunomide50 45 1111.5TNF, IL6
18okt3459.5TNF, IL6
19gm-csf45 2910.5IL6, TNF
20triptolide459.5IL6, TNF
21ciglitazone45 2910.5TNF, IL6
22parthenolide45 210.5TNF, IL6
23lipoteichoic acid459.5IL6, TNF
248-isoprostane459.4IL6, TNF
25polyinosinic-polycytidylic acid459.4TNF, IL6
262,5-oligoadenylate459.4TNF, IL6
27etanercept45 50 1111.4IL6, TNF
28poly(i-c)459.4TNF, IL6
29il 10459.4IL6, TNF
30infliximab45 50 1111.4IL6, TNF
31fenofibrate45 50 1111.4TNF, IL6
32peptidoglycan45 2910.3IL6, TNF
33ivig459.3IL6, TNF
34ccl345 2910.3TNF, IL6
35melphalan45 1110.2IL6, TNF
36neopterin459.2TNF, IL6
37rituximab45 50 1111.1IL6, TNF
38pdtc459.1IL6, TNF
3915-deoxy-delta-12,14-prostaglandin j2459.0IL6, TNF
40pioglitazone45 50 29 1111.8IL6, TNF

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

Sources:
16Gene Ontology
See all sources

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to mitochondrionGO:0066269.6TOMM40, MFN2
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:0454299.4TNF, IL6
6negative regulation of fat cell differentiationGO:0455999.4IL6, TNF
7defense response to Gram-positive bacteriumGO:0508309.4IL6, TNF
8positive regulation of interleukin-6 productionGO:0327559.3IL6, TNF
9positive regulation of smooth muscle cell proliferationGO:0486619.3TNF, IL6
10humoral immune responseGO:0069599.3IL6, TNF
11response to mechanical stimulusGO:0096129.2IL6, TNF
12positive regulation of peptidyl-serine phosphorylationGO:0331389.1TNF, IL6
13positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.1IL6, TNF
14response to glucocorticoid stimulusGO:0513849.0IL6, TNF
15positive regulation of protein kinase B signaling cascadeGO:0518978.8IL6, TNF

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet