MCID: CHR023
MIFTS: 37

Charcot-Marie-Tooth Disease Type 2 malady

Summaries for Charcot-Marie-Tooth Disease Type 2

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46OMIM, 32MalaCards
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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 Cytoskeletal Signaling and Neural Crest Differentiation. The compounds anticodon and atp have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and normal.

Description from OMIM:46 607731, 608673, 613287, 601472, 118210 605588, 606071, 607831, 605589, 607677, 609260, 607736, 600882, 607684, 606595 more

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

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8Disease Ontology, 63Wikipedia, 22GTR, 46OMIM
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Aliases & Descriptions:

charcot-marie-tooth disease type 2 8
charcot-marie-tooth disease, type 2 63 22
ar-cmt2 63


Related Diseases for Charcot-Marie-Tooth Disease Type 2

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17GeneCards, 18GeneDecks
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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 Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.6GJB1, MPZ
2charcot-marie-tooth disease31.5MPZ, GARS, MFN2, HSPB1, NEFL, TRPV4
3chromosomal disease10.7
4autosomal dominant disease10.7
5x-linked charcot-marie-tooth disease type 210.6
6restless legs syndrome10.5
7neuromyotonia and axonal neuropathy, autosomal recessive10.5
8autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation10.5
9autosomal dominant charcot-marie-tooth disease type 210.5
10autosomal recessive axonal charcot-marie-tooth disease type 210.5
11charcot-marie-tooth disease type 110.4
12acute leukemia10.4
13autosomal genetic disease10.4
14leukemia10.4
15lymphoblastic leukemia10.4
16charcot-marie-tooth disease type 2j10.4
17spastic paraplegia 10, autosomal dominant10.4
18axonal neuropathy10.0KIF1B, HSPB1
19muscular atrophy10.0TRPV4
20charcot-marie-tooth neuropathy type 110.0NEFL, MPZ
21charcot-marie-tooth neuropathy type 2a10.0KIF1B, MFN2
22distal hereditary motor neuropathy10.0GZMH, GARS
23polyneuropathy10.0GJB1, MPZ
24charcot-marie-tooth disease type 2b10.0RAB7A, CMT2B
25charcot-marie-tooth disease type 310.0MPZ, GJB1
26wallerian degeneration10.0NEFM, MPZ
27amyotrophic lateral sclerosis10.0HSPB1, NEFM, NEFL
28hereditary neuropathies10.0GJB1, MPZ
29alzheimer's disease10.0HSPB8, MPZ, NEFM, NEFL
30motor neuron disease10.0HSPB1, HSPB8
31sensory peripheral neuropathy10.0GJB1, GDAP1, MPZ, MFN2
32charcot-marie-tooth neuropathy type 210.0HSPB8, RAB7A, KIF1B, GDAP1, NEFL, MPZ
33myopathy10.0HSPB8, HSPB1, MFN2, GARS, MPZ, NEFL
34neuropathy10.0GJB1, GDAP1, DNM2, TRPV4, 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

Clinical Features for Charcot-Marie-Tooth Disease Type 2

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46OMIM
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Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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 222

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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36MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4HSPB8, DYNC1H1, MFN2, GARS, TRPV4, DNM2
2MP:00028738.1HSPB1, MFN2, GARS, NEFL, DNM2, DVL1
3MP:00107687.7DYNC1H1, MFN2, GARS, MPZ, DNM2, GJB1
4MP:00053867.4MPZ, GARS, MFN2, DYNC1H1, NEFM, TRPV4
5MP:00036317.3AARS, DYNC1H1, MFN2, GARS, MPZ, NEFM

Publications for Charcot-Marie-Tooth Disease Type 2

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50PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 2:

(show all 39)
idTitleAuthorsYear
1
Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2. (23929728)
2014
2
A chronic leg ulcer presenting with Charcot-Marie-Tooth disease and type 2 diabetes: a case report. (23446367)
2013
3
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
4
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (23141294)
2012
5
Charcot-Marie-Tooth disease complicating type 2 diabetes. (21817005)
2011
6
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. (21258814)
2011
7
Anesthetic management in Charcot-Marie-Tooth disease type 2 due to a mutation in the mitofusin-2 gene. (21772703)
2011
8
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. (22206013)
2011
9
A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family. (20819609)
2010
10
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. (19427854)
2009
11
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (20008656)
2009
12
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. (19657941)
2009
13
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. (18797198)
2008
14
Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (18579801)
2008
15
Magnetic resonance imaging findings of leg musculature in Charcot- Marie-Tooth disease type 2 due to dynamin 2 mutation. (18560793)
2008
16
Phenotype of Charcot-Marie-Tooth disease Type 2. (17502546)
2007
17
Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]. (17874344)
2007
18
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. (17663472)
2007
19
Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family]. (16331815)
2005
20
Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity. (15364699)
2004
21
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. (14985381)
2004
22
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. (15021985)
2004
23
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. (12736090)
2003
24
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. (12810486)
2003
25
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. (12045210)
2002
26
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (11239949)
2001
27
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (11528513)
2001
28
Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. (11231025)
2001
29
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10691014)
2000
30
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (10841809)
2000
31
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs. (10998431)
2000
32
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. (10502832)
1999
33
Charcot-Marie-Tooth disease type 2 and P0 gene mutations. (10102454)
1999
34
Charcot-Marie-Tooth disease type 2 with restless legs syndrome. (10102430)
1999
35
Charcot-Marie-Tooth disease type 2. (10586228)
1999
36
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. (9595994)
1998
37
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. (9409358)
1997
38
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. (8406488)
1993
39
Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. (1549221)
1992

Genetic 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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1BioGPS, 15Gene 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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4Cell Signaling Technology, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
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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
19.5RAB7A, KIF1B, DNM2, NEFL
29.5DVL1, GJB1, MPZ
3
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9.4KIF5A, NEFL, NEFM, DYNC1H1
4
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9.2DYNC1H1, DNM2, KIF5A, RAB7A

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

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44Novoseek, 28IUPHAR
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Compounds related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1anticodon449.9AARS, GARS
2atp44 289.9AARS, GJB1, NEFL, GARS, DYNC1H1, HSPB1
3serine448.3HSPB1, GZMH, GARS, MPZ, NEFM, GJB1

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

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16Gene Ontology
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Cellular components related to Charcot-Marie-Tooth Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:00588310.1NEFL, NEFM
2microtubuleGO:0058748.8KIF5A, KIF1B, DVL1, DNM2, DYNC1H1
3cytosolGO:0058297.6HSPB1, DYNC1H1, MFN2, GARS, NEFL, DNM2

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

idNameGO IDScoreTop Affiliating Genes
1anterograde axon cargo transportGO:00808910.1KIF1B, NEFL
2microtubule-based movementGO:0070189.4KIF5A, KIF1B, DYNC1H1
3antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.1DYNC1H1, DNM2, KIF5A, RAB7A
4cell deathGO:0082198.9KIF5A, TRPV4, GARS, DYNC1H1, HSPB1, HSPB8

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:0037779.7KIF5A, KIF1B, DYNC1H1
2Rac GTPase bindingGO:0483659.6RAB7A, DVL1
3microtubule bindingGO:0080179.5KIF5A, KIF1B, DNM2, TRPV4
4protein kinase bindingGO:0199019.1HSPB1, TRPV4, DNM2, DVL1
5protein bindingGO:0055157.0HSPB8, HSPB1, DYNC1H1, MFN2, MED25, NEFM

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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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