CMT2
MCID: CHR114
MIFTS: 45

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

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

Summaries for Charcot-Marie-Tooth Neuropathy Type 2

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20GeneReviews, 34MalaCards
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MalaCards: Charcot-Marie-Tooth Neuropathy Type 2, also known as hereditary motor and sensory neuropathies, is related to neuropathy and charcot-marie-tooth disease type 2f. 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 Amyotrophic lateral sclerosis (ALS) and Immune response MIF mediated glucocorticoid regulation. The compounds anticodon and aminoacyl-trna have been mentioned in the context of this disorder. Related mouse phenotypes are normal and respiratory system.

GeneReviews summary for cmt2

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

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20GeneReviews, 21GeneTests, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

charcot-marie-tooth neuropathy type 2 20 21
hereditary motor and sensory neuropathies 63
charcot-marie-tooth disease, axonal type 20
hereditary motorsensory neuropathy 2 20
hmsn type ii 63
hmsn ii 46
hmsn2 20
cmt2 20


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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.0LMNA, MPZ, HSPB8, GDAP1, NEFL, GJB1
2charcot-marie-tooth disease type 2f10.7
3charcot-marie-tooth disease type 2k10.7
4charcot-marie-tooth disease, axonal, type 2l10.7
5charcot-marie-tooth disease, axonal, type 2n10.7
6dnm2-related intermediate charcot-marie-tooth neuropathy10.6
7charcot-marie-tooth disease type 2b10.6
8charcot-marie-tooth disease type 2e10.6
9charcot-marie-tooth disease type 2g10.6
10charcot-marie-toothe disease, axonal, type 2p10.6
11charcot-marie-tooth disease, axonal, type 2q10.6
12charcot-marie-tooth disease, axonal, type 2010.6
13charcot-marie-tooth disease, axonal, type 2m10.6
14charcot-marie-tooth neuropathy type 2e/1f10.4
15charcot-marie-tooth disease type 2a10.4
16charcot-marie-tooth disease type 2b110.4
17charcot-marie-tooth disease type 2b210.4
18charcot-marie-tooth disease type 2d10.4
19charcot-marie-tooth disease type 2h10.4
20charcot-marie-tooth disease type 2i10.4
21charcot-marie-tooth disease type 2j10.4
22charcot-marie-tooth neuropathy type 2g10.4
23charcot-marie-tooth neuropathy type 2l10.4
24charcot-marie-tooth neuropathy type 2h/2k10.4
25charcot-marie-tooth neuropathy type 2n10.4
26charcot-marie-tooth neuropathy type 2a210.4
27charcot-marie-tooth neuropathy type 2b10.4
28charcot-marie-tooth disease, type 2a110.4
29charcot-marie-tooth disease, type 2a210.4
30autosomal dominant charcot-marie-tooth disease type 2g10.4
31charcot-marie-tooth disease, dominant intermediate b10.3
32charcot-marie-tooth disease type 2c10.2
33charcot-marie-tooth disease with pyramidal features, autosomal dominant10.1
34charcot-marie-tooth neuropathy, x-linked dominant, 110.1
35charcot-marie-tooth neuropathy type 410.1GDAP1
36distal hereditary motor neuropathy10.1GARS
37inherited peripheral neuropathy10.1GJB1, MPZ
38tooth disease10.1GJB1, MPZ
39charcot-marie-tooth disease type 310.1GJB1, MPZ
40charcot-marie-tooth neuropathy type 110.1MPZ, NEFL
41charcot-marie-tooth neuropathy type 2a10.1KIF1B, MFN2
42sensory peripheral neuropathy10.0MPZ, GJB1, MFN2, GDAP1
43calcinosis10.0LMNA
44hereditary neuropathies10.0GJB1, LMNA, MPZ
45axonal neuropathy10.0HSPB1, KIF1B
46charcot-marie-tooth disease type 1b10.0
47giant axonal neuropathy 2, autosomal dominant10.0
48autosomal dominant charcot-marie-tooth disease type 210.0
49spinal muscular atrophy10.0MPZ, LMNA
50chorioamnionitis10.0TNF, IL6

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



Diseases related to charcot-marie-tooth neuropathy type 2

Symptoms for Charcot-Marie-Tooth Neuropathy Type 2

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests
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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 221 TRPV4

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 2

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.1HSPB1, LMNA, NEFL, RAB7A, GARS, MFN2
2MP:00053887.6TNF, HSPB8, LMNA, IL6, KIF1B, TRPV4
3MP:00107717.4TNF, LMNA, AARS, IL6, KIF1B, TRPV4
4MP:00053767.1MFN2, TNF, HSPB8, MPZ, LMNA, IL6
5MP:00053696.7MFN2, TNF, HSPB8, LMNA, IL6, DYNC1H1
6MP:00107686.4MPZ, HSPB8, TNF, MFN2, LMNA, IL6
7MP:00053866.1MFN2, TNF, MPZ, LMNA, AARS, IL6
8MP:00036315.9TRPV4, MFN2, TNF, MPZ, LMNA, NEFL

Publications for Charcot-Marie-Tooth Neuropathy Type 2

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

idTitleAuthorsYear
1
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. (17309650)
2007
2
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
3
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. (8614538)
1996
4
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (8628473)
1996
5
Charcot-Marie-Tooth Neuropathy Type 2 (20301462)
1993

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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2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 5Cell Signaling Technology
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Pathways related to Charcot-Marie-Tooth Neuropathy Type 2 according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.4TOMM40, NEFL, TNF
29.1IL6, TNF
39.1IL6, TNF
4
Show member pathways
FAS pathway and Stress induction of HSP regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
8.9LMNA, HSPB1, TNF
5
Show member pathways
8.9IL6, DYNC1H1, RAB7A
68.8RAB7A, IL6, TNF
78.7LMNA, NEFL, RAB7A, KIF1B
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
8.5TNF, LMNA, IL6
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
8.5IL6, LMNA, TNF
108.5IL6, LMNA, TNF
118.3RAB7A, IL6, HSPB1, TNF

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

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Charcot-Marie-Tooth Neuropathy Type 2 according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1anticodon4610.0GARS, AARS
2aminoacyl-trna469.8GARS, AARS
3n-tosyl-l-phenylalanine chloromethyl ketone469.8HSPB1, TNF
4tocilizumab46 1210.5IL6, TNF
5abatacept46 1210.5IL6, TNF
6cdp571469.5IL6, TNF
7tenidap46 3010.5TNF, IL6
8anakinra46 1210.4IL6, TNF
9taurine chloramine469.4IL6, TNF
10vesnarinone469.4IL6, TNF
11gabexate mesilate469.4TNF, IL6
12ulinastatin469.4IL6, TNF
13mip 1alpha469.4IL6, TNF
14il-12469.2IL6, TNF
15adalimumab46 52 1211.2IL6, TNF
16tpck469.1IL6, HSPB1, TNF
17imiquimod46 62 30 1212.0IL6, TNF
18anisomycin46 1210.0IL6, HSPB1, TNF
19sp 60012546 6210.0TNF, HSPB1, IL6
20curcumin468.9TNF, HSPB1, MPZ, IL6
21simvastatin46 52 62 30 25 1213.8TNF, HSPB1, IL6
22rosiglitazone30 46 52 25 1212.7TNF, LMNA, IL6
23prostaglandin468.7TNF, HSPB1, IL6
24cholesterol46 30 25 1211.5MPZ, LMNA, TOMM40, IL6, RAB7A
25creatinine468.5HSPB1, MPZ, LMNA, NEFL, IL6
26serine468.1TNF, HSPB1, MPZ, LMNA, AARS, GJB1
27alanine468.1HSPB1, LMNA, AARS, IL6, GARS, TRPV4
28tyrosine467.9HSPB1, MPZ, IL6, GJB1, GARS, TRPV4
29atp46 308.9GARS, HSPB1, LMNA, NEFL, TOMM40, AARS
30retinoic acid46 258.9TNF, HSPB1, LMNA, NEFL, IL6, GJB1
31lipid467.6TNF, HSPB1, MPZ, LMNA, TOMM40, IL6

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

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

idNameGO IDScoreTop Affiliating Genes
1integral component of mitochondrial outer membraneGO:0313079.7TOMM40, GDAP1
2cytosolGO:0058297.8GARS, DYNC1H1, AARS, NEFL, LMNA, HSPB1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein targeting to mitochondrionGO:0066269.9GDAP1, MFN2, TOMM40
2anterograde axon cargo transportGO:0080899.6NEFL, KIF1B
3regulation of I-kappaB kinase/NF-kappaB signalingGO:0431229.6HSPB1, TNF
4epithelial cell proliferation involved in salivary gland morphogenesisGO:0606649.3TNF, IL6
5negative regulation of lipid storageGO:0108889.2TNF, IL6
6positive regulation of chemokine productionGO:0327229.1IL6, TNF
7positive regulation of nitric oxide biosynthetic processGO:0454299.1IL6, TNF
8response to mechanical stimulusGO:0096129.1TRPV4, IL6, TNF
9response to amino acidGO:0432009.0IL6, AARS
10cell deathGO:0082198.8TRPV4, GARS, DYNC1H1, HSPB1, HSPB8, MFN2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.0NEFL, HSPB1, HSPB8, TNF
2protein bindingGO:0055155.2KIF1B, LRSAM1, MFN2, TNF, HSPB8, HSPB1

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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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