CMT2
MCID: CHR114
MIFTS: 38

Charcot-Marie-Tooth Neuropathy Type 2 (CMT2) malady

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Neuropathy Type 2

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19GeneReviews, 32MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 2, also known as hereditary motor and sensory neuropathies, is related to charcot-marie-tooth disease and neuropathy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 2 is TRPV4 (transient receptor potential cation channel, subfamily V, member 4), and among its related pathways are Pathogenesis of ALS and Neural Crest Differentiation. The compounds n-tosyl-l-phenylalanine chloromethyl ketone and tocilizumab have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and behavior/neurological.

GeneReviews summary for cmt2

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

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19GeneReviews, 20GeneTests, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

charcot-marie-tooth neuropathy type 2 19 20
hereditary motor and sensory neuropathies 60
charcot-marie-tooth disease, axonal type 19
hereditary motorsensory neuropathy 2 19
hmsn type ii 60
hmsn ii 44
hmsn2 19
cmt2 19


Related Diseases for Charcot-Marie-Tooth Neuropathy 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 Neuropathy Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.2AARS, RAB7A, HSPB1, MFN2, GARS, MPZ
2neuropathy31.1HSPB8, MFN2, GARS, MPZ, NEFL, TRPV4
3tooth disease31.0MPZ, GJB1
4charcot-marie-tooth disease type 330.7MPZ, GJB1
5charcot-marie-tooth neuropathy type 130.6NEFL, MPZ
6axonal neuropathy30.6HSPB1, KIF1B
7hereditary neuropathies30.6MPZ, GJB1, LMNA
8polyneuropathy30.4MPZ, GJB1
9sensory peripheral neuropathy30.4MFN2, MPZ, GDAP1, GJB1
10hereditary sensory neuropathy11.2
11hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
12hereditary motor and sensory neuropathy vi10.7
13optic atrophy10.7
14charcot-marie-tooth hereditary neuropathy10.7
15charcot-marie-tooth disease type 2f10.7
16charcot-marie-tooth disease type 2k10.7
17charcot-marie-tooth disease, axonal, type 2l10.7
18charcot-marie-tooth disease, axonal, type 2n10.7
19neuropathy, hereditary motor and sensory, okinawa type10.6
20charcot-marie-tooth disease type 110.6
21motor peripheral neuropathy10.6
22neuropathy, hereditary motor and sensory, russe type10.6
23dnm2-related intermediate charcot-marie-tooth neuropathy10.6
24charcot-marie-tooth disease type 2b10.6
25charcot-marie-tooth disease type 2e10.6
26charcot-marie-tooth disease type 2g10.6
27charcot-marie-toothe disease, axonal, type 2p10.6
28charcot-marie-tooth disease, axonal, type 2q10.6
29charcot-marie-tooth disease, axonal, type 2010.6
30charcot-marie-tooth disease, axonal, type 2m10.6
31hereditary spastic paraplegia10.5
32paraplegia10.5
33neuropathy, hereditary motor and sensory, lom type10.5
34refsum disease10.4
35juvenile glaucoma10.4
36glaucoma10.4
37hereditary neuropathy with liability to pressure palsies10.4
38charcot-marie-tooth neuropathy type 4a10.4
39charcot-marie-tooth disease type 1a10.4
40charcot-marie-tooth disease type 1d10.4
41charcot-marie-tooth disease type 4b210.4
42cowchock syndrome10.4
43charcot-marie-tooth neuropathy type 2c10.4
44charcot-marie-tooth disease - deafness - intellectual deficit10.4
45charcot-marie-tooth neuropathy type 2e/1f10.4
46charcot-marie-tooth disease type 2a10.4
47charcot-marie-tooth disease type 2b110.4
48charcot-marie-tooth disease type 2b210.4
49charcot-marie-tooth disease type 2d10.4
50charcot-marie-tooth disease type 2h10.4

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



Diseases related to charcot-marie-tooth neuropathy type 2

Clinical Features for Charcot-Marie-Tooth Neuropathy Type 2

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Neuropathy Type 2

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Neuropathy Type 2

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

Search CenterWatch for Charcot-Marie-Tooth Neuropathy Type 2

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 2

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20GeneTests
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Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 2:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 220 TRPV4

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 2

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32MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 2:

32
Skeletal muscle

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.3SMAD1, HSPB8, DYNC1H1, TNF, MFN2, GARS
2MP:00053866.1DYNC1H1, TNF, MFN2, GARS, MPZ, TRPV4
3MP:00107686.0GARS, MFN2, TNF, DYNC1H1, MPZ, IL6
4MP:00036315.4MPZ, GARS, MFN2, TNF, DYNC1H1, NEFL

Publications for Charcot-Marie-Tooth Neuropathy Type 2

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

(show all 13)
idTitleAuthorsYear
1
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. (20418531)
2010
2
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. (17309650)
2007
3
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). (16762064)
2006
4
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (15549395)
2005
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
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. (15064763)
2004
7
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. (11799477)
2002
8
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met. (10764043)
2000
9
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
10
2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. (9713862)
1998
11
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. (8614538)
1996
12
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (8628473)
1996
13
Charcot-Marie-Tooth Neuropathy Type 2 (20301462)
1993

Genetic Variations for Charcot-Marie-Tooth Neuropathy Type 2

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

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

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

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Charcot-Marie-Tooth Neuropathy Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4NEFL, TOMM40, TNF
29.4SMAD1, GJB1, MPZ
39.1NEFL, LMNA, KIF1B, RAB7A
4
Apoptosis and survival Caspase cascade
Hide members
9.0LMNA, TNF, HSPB1
58.9DYNC1H1, IL6, RAB7A
68.3RAB7A, IL6, TNF, HSPB1

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

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 2 according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1n-tosyl-l-phenylalanine chloromethyl ketone449.6HSPB1, TNF
2tocilizumab44 1110.5IL6, TNF
3abatacept44 1110.4TNF, IL6
4cdp571449.4IL6, TNF
5tenidap44 2810.4IL6, TNF
6anakinra44 1110.3TNF, IL6
7vesnarinone449.2IL6, TNF
8taurine chloramine449.2IL6, TNF
9gabexate mesilate449.1IL6, TNF
10ulinastatin449.0TNF, IL6
11tpck448.9HSPB1, TNF, IL6
12anisomycin44 119.8IL6, TNF, HSPB1
13curcumin448.7HSPB1, TNF, MPZ, IL6
14creatinine448.5HSPB1, MPZ, NEFL, IL6, LMNA
15sp 60012544 599.3IL6, TNF, HSPB1
16cholesterol44 28 11 2411.3RAB7A, LMNA, IL6, MPZ, TOMM40
17alanine448.2HSPB1, GARS, TRPV4, IL6, LMNA, AARS
18atp44 289.1AARS, LMNA, GJB1, NEFL, TOMM40, GARS
19retinoic acid44 248.9HSPB1, TNF, NEFL, IL6, GJB1, LMNA
20serine447.6HSPB1, TNF, GARS, MPZ, GJB1, LMNA
21lipid447.5HSPB1, TNF, TOMM40, MPZ, IL6, LMNA

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

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

idNameGO IDScoreTop Affiliating Genes
1integral to mitochondrial outer membraneGO:03130710.0GDAP1, TOMM40

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

idNameGO IDScoreTop Affiliating Genes
1protein targeting to mitochondrionGO:0066269.7MFN2, TOMM40, GDAP1
2regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431229.4TNF, HSPB1
3negative regulation of lipid storageGO:0108889.0IL6, TNF
4response to mechanical stimulusGO:0096129.0IL6, TRPV4, TNF
5cell deathGO:0082199.0TRPV4, GARS, DYNC1H1, HSPB1, HSPB8
6epithelial cell proliferation involved in salivary gland morphogenesisGO:0606648.8IL6, TNF

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.4SMAD1, NEFL, TNF, HSPB1, HSPB8

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

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Sources for Charcot-Marie-Tooth Neuropathy 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