MCID: CHR115
MIFTS: 34

Charcot-Marie-Tooth Neuropathy Type 2a malady

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

About this section
Sources:
19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditarymotor sensory neuropathy iia, is related to neuropathy and charcot-marie-tooth neuropathy type 2. 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. Affiliated tissues include skeletal muscle, and related mouse phenotypes are skeleton and muscle.

GeneReviews summary for cmt2a

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

About this section
Sources:
19GeneReviews, 20GeneTests
See all sources

Classifications:

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


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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Charcot-Marie-Tooth Disease Type 3 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
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 24)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.3MFN2
2charcot-marie-tooth neuropathy type 231.2MFN2, KIF1B
3charcot-marie-tooth disease30.3MFN2, KIF1B
4diabetic neuropathy10.5
5obesity10.5
6charcot-marie-tooth disease type 210.2
7chromosomal disease10.2
8tooth disease10.2
9pheochromocytoma10.0KIF1B
10toxic shock syndrome10.0TNF
11poems syndrome10.0IL6
12axonal neuropathy10.0KIF1B
13coronary heart disease10.0IL6
14arthritis10.0TNF, IL6
15endometriosis10.0IL6
16juvenile rheumatoid arthritis10.0IL6, TNF
17adult respiratory distress syndrome10.0IL6, TNF
18periodontitis10.0TNF, IL6
19periodontal disease10.0IL6, TNF
20autosomal dominant disease10.0
21autosomal genetic disease10.0
22polyneuropathy10.0
23spastic paraplegia 10, autosomal dominant10.0
24chorioamnionitis10.0IL6, 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

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

About this section

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

32
Skeletal muscle

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

About this section
Sources:
36MGI
See all sources

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

36
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

About this section
Sources:
50PubMed
See all sources

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

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

About this section

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

About this section
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

About this section
Sources:
51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 52R&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

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1tocilizumab44 1110.6IL6, TNF
2abatacept44 1110.6IL6, TNF
3cdp571449.6IL6, TNF
4tenidap44 2810.5TNF, IL6
5anakinra44 1110.5IL6, TNF
6taurine chloramine449.5TNF, IL6
7vesnarinone449.5TNF, IL6
8gabexate mesilate449.5IL6, TNF
9ulinastatin449.5IL6, TNF
10mip 1alpha449.5IL6, TNF
11adalimumab44 49 1111.5TNF, IL6
12il-12449.5IL6, TNF
13imiquimod44 28 59 1112.5TNF, IL6
14tpck449.5TNF, IL6
15polymyxin b449.5IL6, TNF
16groalpha449.5TNF, IL6
17leflunomide49 44 1111.5TNF, IL6
18okt3449.5TNF, IL6
19gm-csf44 2810.5IL6, TNF
20triptolide449.5IL6, TNF
21ciglitazone44 2810.5TNF, IL6
22parthenolide44 210.5TNF, IL6
23lipoteichoic acid449.5IL6, TNF
248-isoprostane449.4IL6, TNF
25polyinosinic-polycytidylic acid449.4TNF, IL6
262,5-oligoadenylate449.4TNF, IL6
27etanercept44 49 1111.4IL6, TNF
28poly(i-c)449.4TNF, IL6
29il 10449.4IL6, TNF
30infliximab44 49 1111.4IL6, TNF
31fenofibrate44 49 1111.4TNF, IL6
32peptidoglycan44 2810.3IL6, TNF
33ivig449.3IL6, TNF
34ccl344 2810.3TNF, IL6
35melphalan44 1110.2IL6, TNF
36neopterin449.2TNF, IL6
37rituximab44 49 1111.1IL6, TNF
38pdtc449.1IL6, TNF
3915-deoxy-delta-12,14-prostaglandin j2449.0IL6, TNF
40pioglitazone44 49 28 1111.8IL6, TNF

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet