MCID: CHR115
MIFTS: 24

Charcot-Marie-Tooth Neuropathy Type 2a malady

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Mental diseases

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

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

Name: Charcot-Marie-Tooth Neuropathy Type 2a 23 24
Hmsniia 23 24
Hmsn2a 23 24
Cmt2a 23 24
Hereditary and Motor Sensory Neuropathy Iia 24
Hereditarymotor Sensory Neuropathy Iia 23
Cmt 2a 24

Characteristics:

GeneReviews:

23
Penetrance The penetrance is considered to be complete. some individuals with mfn2 mutations 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 hmsniia, is related to charcot-marie-tooth disease, type 2a2 and charcot-marie-tooth disease type 2a. 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. The drugs protease inhibitors and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotype is Decreased shRNA abundance (Z-score < -2).

GeneReviews: NBK1511

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

Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
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
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
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 X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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

(show all 22)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2a2 10.9
2 charcot-marie-tooth disease type 2a 10.9
3 spastic paraplegia 10, autosomal dominant 10.9
4 neuropathy 10.6
5 charcot-marie-tooth neuropathy 10.6
6 obesity 10.2
7 charcot-marie-tooth disease 10.0
8 tooth disease 10.0
9 charles bonnet syndrome 9.9 KIF1B MFN2
10 charcot-marie-tooth disease, type 2a1 9.9 KIF1B MFN2
11 neuropathy, inflammatory demyelinating 9.9 KIF1B MFN2
12 dejerine-sottas disease 9.9 KIF1B MFN2
13 parastremmatic dwarfism 9.9 KIF1B MFN2
14 infantile epileptic encephalopathy 9.9 KIF1B MFN2
15 mitochondrial complex v deficiency, nuclear type 2 9.8 KIF1B MFN2
16 thrombophilia due to antithrombin iii deficiency 9.8 KIF1B MFN2
17 conotruncal heart malformations 9.8 KIF1B MFN2
18 chromophobe renal cell carcinoma 9.8 KIF1B MFN2
19 polyneuropathy 9.8
20 charcot-marie-tooth disease, type 2j 9.8 KIF1B MFN2
21 cold-induced sweating syndrome including crisponi syndrome 9.7 KIF1B MFN2 TOMM40
22 wernicke-korsakoff syndrome 9.7 KIF1B MFN2

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
id 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

Drugs for Charcot-Marie-Tooth Neuropathy Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors
2 HIV Protease Inhibitors
3 4-des-dimethylaminotetracycline
4 Matrix Metalloproteinase Inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Unknown status NCT01193075

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

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

Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 2a:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2a 24 MFN2 KIF1B

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

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

39
Skeletal Muscle

Publications for Charcot-Marie-Tooth Neuropathy Type 2a

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

id 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
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
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. ( 15549395 )
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:

id 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:

id 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:

id 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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