MCID: CHR115
MIFTS: 24

Charcot-Marie-Tooth Neuropathy Type 2a malady

Genetic diseases, Neuronal diseases, Ear diseases, Rare diseases, Mental 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 21 22
Hmsniia 21 22
Hmsn2a 21 22
Cmt2a 21 22
 
Hereditary Motor and Sensory Neuropathy 2 a 22
Hereditarymotor Sensory Neuropathy Iia 21
Cmt 2a 22


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 hmsniia, is related to charcot-marie-tooth disease, type 1b and charcot-marie-tooth neuropathy type 1. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2a is MFN2 (Mitofusin 2), and among its related pathways is Pink/Parkin Mediated Mitophagy. Affiliated tissues include skeletal muscle.

GeneReviews summary for cmt2a

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

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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 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 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
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 top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1b29.7KIF1B, MFN2
2charcot-marie-tooth neuropathy type 129.5KIF1B, MFN2
3neuropathy11.0
4charcot-marie-tooth neuropathy11.0
5obesity10.5
6charcot-marie-tooth disease10.3
7tooth disease10.3
8charcot-marie-tooth disease, type 2a210.1
9polyneuropathy10.1
10muscular dystrophy, congenital10.0
11muscular dystrophy, congenital, 1b10.0
12anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0
13c syndrome10.0
14charcot-marie-tooth disease, type 4c10.0
15peeling skin syndrome 110.0
16roberts syndrome10.0
17charcot-marie-tooth disease, type 4a10.0
18neuropathy, hereditary sensory, type if10.0
19spastic paraplegia 10, autosomal dominant10.0
20peeling skin syndrome 210.0
21exfoliation syndrome10.0
22charcot-marie-tooth disease, type 1e10.0
23roussy-levy syndrome10.0
24child syndrome10.0
25burns10.0
26muscle disorders10.0
27sensory peripheral neuropathy10.0
28motor peripheral neuropathy10.0
29critical illness polyneuropathy10.0
30peeling skin syndrome10.0
31congenital nervous system abnormality10.0
32hereditary sensory neuropathy10.0
33motor neuritis10.0
34muscle tissue disease10.0
35muscular dystrophy10.0
36myopathy10.0
37nerve compression syndrome10.0
38nervous system disease10.0
39neuromuscular disease10.0
40peripheral nervous system disease10.0
41peripheral neuropathy10.0
42neurologic diseases10.0
43charcot-marie-tooth hereditary neuropathy10.0
44charcot-marie-tooth neuropathy type 410.0
45dnmt1-related dementia, deafness, and sensory neuropathy10.0
46charcot-marie-tooth disease type 2a10.0
47hereditary neuropathy with liability to pressure palsy10.0
48hereditary peripheral nervous disorder10.0
49hereditary type 1 neuropathy10.0
50hereditary type 2 neuropathy10.0

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075

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 2a22 KIF1B, 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:

33
Skeletal muscle

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

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Publications for Charcot-Marie-Tooth Neuropathy Type 2a

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

idTitleAuthorsYear
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

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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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3MFN2, TOMM40

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.7MFN2, TOMM40
2mitochondrionGO:00057398.5KIF1B, MFN2, TOMM40

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

idNameGO IDScoreTop Affiliating Genes
1macromitophagyGO:00004239.3MFN2, TOMM40
2protein targeting to mitochondrionGO:00066269.3MFN2, TOMM40
3macroautophagyGO:00162369.2MFN2, TOMM40

Sources for Charcot-Marie-Tooth Neuropathy Type 2a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet