CMT2
MCID: CHR114
MIFTS: 31

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

Neuronal category

Summaries for Charcot-Marie-Tooth Neuropathy Type 2

Sources:
19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Charcot-Marie-Tooth Neuropathy Type 2, also known as hereditary motor and sensory neuropathies, is related to tooth disease and hereditary neuropathies. 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. Related mouse phenotypes are muscle and behavior/neurological.

GeneReviews summary for cmt2

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

Sources:
19GeneReviews, 20GeneTests, 45Novoseek, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

charcot-marie-tooth neuropathy type 2 19 20
hereditary motor and sensory neuropathies 61
charcot-marie-tooth disease, axonal type 19
hereditary motorsensory neuropathy 2 19
hmsn type ii 61
hmsn ii 45
hmsn2 19
cmt2 19


Related Diseases for Charcot-Marie-Tooth Neuropathy Type 2

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the charcot-marie-tooth disease 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 type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.0MPZ, GJB1
2hereditary neuropathies30.9MPZ, GJB1, LMNA
3charcot-marie-tooth disease type 330.6MPZ, GJB1
4axonal neuropathy30.6HSPB1, KIF1B
5charcot-marie-tooth neuropathy type 130.6NEFL, MPZ
6sensory peripheral neuropathy30.4MFN2, MPZ, GDAP1, GJB1
7charcot-marie-tooth disease type 2f10.7
8charcot-marie-tooth disease type 2k10.7
9charcot-marie-tooth disease, axonal, type 2l10.7
10charcot-marie-tooth disease, axonal, type 2n10.7
11charcot-marie-tooth hereditary neuropathy10.7
12hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.7
13hereditary motor and sensory neuropathy vi10.7
14motor peripheral neuropathy10.6
15n syndrome10.6
16corpus callosum agenesis10.6
17neuropathy, hereditary motor and sensory, okinawa type10.6
18dnm2-related intermediate charcot-marie-tooth neuropathy10.6
19charcot-marie-tooth disease type 2b10.6
20charcot-marie-tooth disease type 2e10.6
21charcot-marie-tooth disease type 2g10.6
22charcot-marie-toothe disease, axonal, type 2p10.6
23charcot-marie-tooth disease, axonal, type 2q10.6
24charcot-marie-tooth disease, axonal, type 2010.6
25charcot-marie-tooth disease, axonal, type 2m10.6
26hereditary spastic paraplegia10.5
27neuropathy, hereditary motor and sensory, russe type10.5
28charcot-marie-tooth disease type 110.5
29refsum disease10.5
30juvenile glaucoma10.5
31hereditary neuropathy with liability to pressure palsies10.5
32neuropathy, hereditary motor and sensory, lom type10.5
33glaucoma, hereditary10.5
34neuropathy sensory spastic paraplegia10.5
35charcot-marie-tooth neuropathy type 2c10.5
36charcot-marie-tooth neuropathy type 2e/1f10.4
37charcot-marie-tooth disease type 2a10.4
38charcot-marie-tooth disease type 2b110.4
39charcot-marie-tooth disease type 2b210.4
40charcot-marie-tooth disease type 2d10.4
41charcot-marie-tooth disease type 2h10.4
42charcot-marie-tooth disease type 2i10.4
43charcot-marie-tooth disease type 2j10.4
44charcot-marie-tooth neuropathy type 2g10.4
45charcot-marie-tooth neuropathy type 2l10.4
46charcot-marie-tooth neuropathy type 2h/2k10.4
47charcot-marie-tooth neuropathy type 2n10.4
48charcot-marie-tooth neuropathy type 2a210.4
49charcot-marie-tooth neuropathy type 2b10.4
50charcot-marie-tooth disease, type 2a110.4

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
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

Sources:
51PubMed
See all sources

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

idTitleAuthorsYear
1
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. (9626246)
1998

Genetic Variations for Charcot-Marie-Tooth Neuropathy Type 2

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

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

(show all 21)
idCompoundScoreTop Affiliating Genes
1n-tosyl-l-phenylalanine chloromethyl ketone459.6HSPB1, TNF
2tocilizumab45 1110.5IL6, TNF
3abatacept45 1110.4TNF, IL6
4cdp571459.4IL6, TNF
5tenidap45 2910.4IL6, TNF
6anakinra45 1110.3TNF, IL6
7vesnarinone459.2IL6, TNF
8taurine chloramine459.2IL6, TNF
9gabexate mesilate459.1IL6, TNF
10ulinastatin459.0TNF, IL6
11tpck458.9HSPB1, TNF, IL6
12anisomycin45 119.8IL6, TNF, HSPB1
13curcumin458.7HSPB1, TNF, MPZ, IL6
14creatinine458.5HSPB1, MPZ, NEFL, IL6, LMNA
15sp 60012545 609.3IL6, TNF, HSPB1
16cholesterol45 29 11 2411.3RAB7A, LMNA, IL6, MPZ, TOMM40
17alanine458.2HSPB1, GARS, TRPV4, IL6, LMNA, AARS
18atp45 299.1AARS, LMNA, GJB1, NEFL, TOMM40, GARS
19retinoic acid45 248.9HSPB1, TNF, NEFL, IL6, GJB1, LMNA
20serine457.6HSPB1, TNF, GARS, MPZ, GJB1, LMNA
21lipid457.5HSPB1, TNF, TOMM40, MPZ, IL6, LMNA

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Neuropathy Type 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet