MCID: CHR115
MIFTS: 19

Charcot-Marie-Tooth Neuropathy Type 2a

Categories: Neuronal diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 2a:

Name: Charcot-Marie-Tooth Neuropathy Type 2a 24
Hereditarymotor Sensory Neuropathy Iia 24
Hmsniia 24
Hmsn2a 24
Cmt2a 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance is considered to be complete. some individuals with mfn2 pathogenic variants are asymptomatic and have only mild findings on examination; in these cases, however, the disease may prove to be late onset [lawson et al 2005]...

Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 2a

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 2a, also known as hereditarymotor sensory neuropathy iia, is related to tooth disease 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/superpathways are Factors involved in megakaryocyte development and platelet production and Pink/Parkin Mediated Mitophagy. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

GeneReviews: NBK1511

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

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 & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 2a

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.23 KIF1B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.23 KIF1B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.23 KIF1B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.23 TOMM40
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.23 TOMM40
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.23 KIF1B TOMM40
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.23 TOMM40

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

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

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

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

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

41
Skeletal Muscle

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

Articles related to Charcot-Marie-Tooth Neuropathy Type 2a:

# Title Authors Year
1
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. ( 26307494 )
2015
2
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. ( 22526351 )
2012
3
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. ( 20418531 )
2010
4
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). ( 16762064 )
2006
5
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. ( 15549395 )
2005
6
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
7
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. ( 15064763 )
2004
8
Charcot-Marie-Tooth Neuropathy Type 2A ( 20301684 )
1993

Variations for Charcot-Marie-Tooth Neuropathy Type 2a

Expression for Charcot-Marie-Tooth Neuropathy Type 2a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 2a.

Pathways for Charcot-Marie-Tooth Neuropathy Type 2a

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

# Super pathways Score Top Affiliating Genes
1 11.15 KIF1B MFN2
2
Show member pathways
10.29 MFN2 TOMM40

GO Terms for Charcot-Marie-Tooth Neuropathy Type 2a

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 KIF1B MFN2 TOMM40
2 mitochondrial outer membrane GO:0005741 8.62 MFN2 TOMM40

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

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 8.96 MFN2 TOMM40
2 protein targeting to mitochondrion GO:0006626 8.62 MFN2 TOMM40

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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