MCID: CHR139
MIFTS: 34

Charcot-Marie-Tooth Disease Type 2c malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 2c

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Charcot-marie-tooth disease (cmt) is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. in cmt type 2 (cmt2), the motor system is more prominently involved than the sensory system, although both are involved. individuals with this condition typically have slowly progressive weakness and atrophy of distal muscles in the feet and/or hands usually associated with depressed tendon reflexes and mild or no sensory loss. there is significant clinical overlap with cmt1. the subtypes of cmt2 are similar clinically and distinguished only by molecular genetic findings.   charcot-marie-tooth disease type 2c (cmt2c) is a very rare form of cmt. individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with cmt. mild sensory loss has also been noted in some individuals. cmt type 2c is caused by mutations in the trpv4 gene on chromosome 12q24. last updated: 6/3/2011

MalaCards: Charcot-Marie-Tooth Disease Type 2c, also known as hereditary motor and sensory neuropathy, type iic, is related to muscular atrophy and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2c is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:47 606071

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

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43NIH Rare Diseases, 22GTR, 47OMIM, 62UMLS, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cmt2c:
Inheritance: Autosomal dominant


Aliases & Descriptions:

charcot-marie-tooth disease type 2c 43
hereditary motor and sensory neuropathy, type iic 47 62
charcot marie tooth disease type 2c 43 22
cmt2c 45 49
autosomal dominant charcot-marie-tooth disease type 2c 49
charcot-marie-tooth disease, axonal, type 2c 43
hereditary motor and sensory neuropathy 2 c 43
hereditary motor and sensory neuropathies 62
hmsn 2 c 43
cmt 2c 43


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OMIM47 606071
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 2c

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy30.1TRPV4
2charcot-marie-tooth disease10.6
3tooth disease10.6
4charcot-marie-tooth disease type 2h10.5
5charcot-marie-tooth neuropathy type 2c10.5
6spinal muscular atrophy10.0
7trpv4-associated disorders10.0
8charcot-marie-tooth disease, type 2a110.0
9charcot-marie-tooth disease, type 2a210.0
10short stature10.0
11brachyolmia type 310.0TRPV4
12parastremmatic dwarfism10.0TRPV4
13metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Charcot-Marie-Tooth Disease Type 2c:



Diseases related to charcot-marie-tooth disease type 2c

Symptoms for Charcot-Marie-Tooth Disease Type 2c

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47OMIM
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Symptoms by clinical synopsis from OMIM:

606071

Clinical features from OMIM:

606071

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2c

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2c

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 2c

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22GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 2c:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2c22

Anatomical Context for Charcot-Marie-Tooth Disease Type 2c

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

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Publications for Charcot-Marie-Tooth Disease Type 2c

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52PubMed
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Articles related to Charcot-Marie-Tooth Disease Type 2c:

idTitleAuthorsYear
1
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (20037586)
2010
2
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. (12062259)
2002

Variations for Charcot-Marie-Tooth Disease Type 2c

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269CysVAR_063528
2TRPV4p.Arg269HisVAR_063529
3TRPV4p.Arg316CysVAR_063530
4TRPV4p.Arg315TrpVAR_063541
5TRPV4p.Arg232CysVAR_067990
6TRPV4p.Arg316HisVAR_067991
7TRPV4p.Ser542TyrVAR_067993

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

1
id Gene Name Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr)single nucleotide variantPathogenicrs387906902GRCh37Chr 12, 110231365: 110231365
2TRPV4NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys)single nucleotide variantPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
3TRPV4NM_021625.4(TRPV4): c.947G> A (p.Arg316His)single nucleotide variantPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
4TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
5TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
6TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
7TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
8TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2c

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2c

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet