MCID: CHR023
MIFTS: 48

Charcot-Marie-Tooth Disease Type 2 malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Fetal diseases, Ear diseases categories

Summaries for Charcot-Marie-Tooth Disease Type 2

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48OMIM, 34MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 2, also known as charcot-marie-tooth disease, type 2, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2 is HSPB8 (heat shock 22kDa protein 8), and among its related pathways are Cell adhesion Gap junctions and Agrin Interactions at Neuromuscular Junction. The compounds polyacrylamide and anticodon have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and mortality/aging.

Description from OMIM:48 607736, 607677, 606595, 607831, 601472 606071, 613287, 608673, 118210, 600882, 607684, 605589, 609260, 607731, 605588 more

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2

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9Disease Ontology, 66Wikipedia, 23GTR, 48OMIM
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth disease type 2 9
charcot-marie-tooth disease, type 2 66 23
ar-cmt2 66


Related Diseases for Charcot-Marie-Tooth Disease Type 2

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18GeneCards, 19GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 1 charcot-marie-tooth disease type 2
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy 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 Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.7GJB1, MPZ
2charcot-marie-tooth disease31.3HSPB1, GJB1, MFN2, MPZ, GDAP1, NEFL
3autosomal dominant charcot-marie-tooth disease type 210.7
4x-linked charcot-marie-tooth disease type 210.6
5restless legs syndrome10.5
6neuromyotonia and axonal neuropathy, autosomal recessive10.5
7autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.5
8autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation10.5
9autosomal recessive axonal charcot-marie-tooth disease type 210.5
10leukemia10.4
11lymphoblastic leukemia10.4
12charcot-marie-tooth disease type 2j10.4
13giant axonal neuropathy 2, autosomal dominant10.4
14spastic paraplegia 10, autosomal dominant10.4
15charcot-marie-tooth neuropathy type 410.1GDAP1
16charcot-marie-tooth neuropathy type 2a10.1KIF1B, MFN2
17axonal neuropathy10.1KIF1B, HSPB1
18charcot-marie-tooth neuropathy type 110.1MPZ, NEFL
19inherited peripheral neuropathy10.1GJB1, MPZ
20charcot-marie-tooth disease type 310.1MPZ, GJB1
21hereditary neuropathies10.1MPZ, GJB1
22distal hereditary motor neuropathy10.1GARS
23wallerian degeneration10.1MPZ, NEFM
24motor neuron disease10.1HSPB1, HSPB8
25amyotrophic lateral sclerosis10.0HSPB1, NEFM, NEFL
26polyneuropathy10.0GJB1, MPZ
27sensory peripheral neuropathy10.0MPZ, GDAP1, GJB1, MFN2
28alzheimer's disease10.0HSPB8, MPZ, NEFM, NEFL
29multiple sclerosis10.0HSPB1, NEFL, MPZ
30myositis10.0GARS, AARS
31charcot-marie-tooth neuropathy type 29.9GDAP1, GARS, KIF1B, MFN2, HSPB8, HSPB1
32myopathy9.9GARS, NEFL, MPZ, HSPB8, MFN2, GDAP1
33neuropathy9.8HSPB8, GDAP1, MFN2, MPZ, NEFL, NEFM

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2:



Diseases related to charcot-marie-tooth disease type 2

Symptoms for Charcot-Marie-Tooth Disease Type 2

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48OMIM
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Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2

Genetic Tests for Charcot-Marie-Tooth Disease Type 2

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23GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 2:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 223

Anatomical Context for Charcot-Marie-Tooth Disease Type 2

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

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38MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5MFN2, HSPB8, ACTG1, KIF1B, GARS, TRPV4
2MP:00107687.2DVL1, HSPB8, MPZ, ACTG1, KIF1B, GJB1
3MP:00053865.9NEFM, MPZ, DVL1, MFN2, ACTG1, AARS
4MP:00036315.8TRPV4, MFN2, DVL1, MPZ, NEFL, NEFM

Publications for Charcot-Marie-Tooth Disease Type 2

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53PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 2:

(show all 25)
idTitleAuthorsYear
1
Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. (23929728)
2014
2
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (23141294)
2012
3
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. (21258814)
2011
4
Anesthetic management in Charcot-Marie-Tooth disease type 2 due to a mutation in the mitofusin-2 gene. (21772703)
2011
5
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. (22206013)
2011
6
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (20008656)
2009
7
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. (19657941)
2009
8
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. (18797198)
2008
9
Magnetic resonance imaging findings of leg musculature in Charcot- Marie-Tooth disease type 2 due to dynamin 2 mutation. (18560793)
2008
10
Phenotype of Charcot-Marie-Tooth disease Type 2. (17502546)
2007
11
Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family]. (16331815)
2005
12
Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity. (15364699)
2004
13
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. (14985381)
2004
14
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. (15021985)
2004
15
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. (12810486)
2003
16
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (11528513)
2001
17
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10691014)
2000
18
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (10841809)
2000
19
Charcot-Marie-Tooth disease type 2 and P0 gene mutations. (10102454)
1999
20
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10102430)
1999
21
Charcot-Marie-Tooth disease type 2. (10586228)
1999
22
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. (9595994)
1998
23
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. (9409358)
1997
24
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. (8406488)
1993
25
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. (1549221)
1992

Variations for Charcot-Marie-Tooth Disease Type 2

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Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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51PathCards, 61Thomson Reuters, 54QIAGEN, 5Cell Signaling Technology, 39NCBI BioSystems Database, 13EMD Millipore
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Pathways related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5GJB1, ACTG1
29.4ACTG1, DVL1
39.4KIF1B, ACTG1, NEFL
49.3GJB1, MPZ, DVL1
5
Show member pathways
Cytoskeleton remodeling Neurofilaments61
9.3NEFL, NEFM, ACTG1
69.2KIF1B, ACTG1, DVL1

Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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46Novoseek, 25HMDB, 30IUPHAR, 52PharmGKB, 12DrugBank
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Compounds related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polyacrylamide469.7HSPB1, NEFL, NEFM
2anticodon469.3GARS, AARS
3superoxide46 2510.2HSPB1, NEFL, NEFM, ACTG1
4aminoacyl-trna469.2GARS, AARS
5trna468.8GARS, AARS
6glutamate468.7GARS, GJB1, NEFL, MPZ
7atp46 309.4HSPB1, NEFL, AARS, GJB1, GARS
8alanine468.3TRPV4, GARS, AARS, NEFM, HSPB1
9serine468.1HSPB1, MPZ, NEFM, AARS, GJB1, GARS
10calcium46 52 25 1210.5HSPB1, NEFM, ACTG1, GJB1, GARS, TRPV4

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

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17Gene Ontology
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Cellular components related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:0058839.9NEFM, NEFL
2axonGO:0304249.5NEFM, NEFL, DVL1
3cytoplasmic vesicleGO:0314109.2TRPV4, KIF1B, DVL1
4cytosolGO:0058297.0MFN2, DVL1, HSPB1, NEFL, ACTG1, AARS

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.0KIF1B, NEFL
2neurofilament bundle assemblyGO:03369310.0NEFM, NEFL
3protein targeting to mitochondrionGO:0066269.9MFN2, GDAP1
4retina homeostasisGO:0018959.6HSPB1, ACTG1
5tRNA aminoacylation for protein translationGO:0064188.8GARS, AARS
6gene expressionGO:0104678.3GARS, AARS, MED25, HSPB1
7cell deathGO:0082198.2TRPV4, MFN2, HSPB8, HSPB1, DHTKD1, GARS

Molecular functions related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:0050809.6TRPV4, HSPB1
2microtubule bindingGO:0080179.5TRPV4, KIF1B, NEFM
3structural constituent of cytoskeletonGO:0052009.4NEFL, NEFM, ACTG1
4protein kinase bindingGO:0199019.3TRPV4, HSPB1, DVL1
5identical protein bindingGO:0428028.9ACTG1, NEFL, HSPB1, HSPB8, DVL1
6protein bindingGO:0055157.5MFN2, DVL1, HSPB8, HSPB1, NEFL, NEFM
7ATP bindingGO:0055247.4ACTG1, AARS, KIF1B, GARS, TRPV4

Products for genes affiliated with Charcot-Marie-Tooth Disease Type 2

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Sources for Charcot-Marie-Tooth Disease Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet