MCID: CHR139
MIFTS: 23

Charcot-Marie-Tooth Disease Type 2c malady

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

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

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Sources:
41NIH Rare Diseases, 43Novoseek, 22GTR, 60UMLS
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Charcot-Marie-Tooth Disease Type 2c, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease Type 2c 41
Charcot Marie Tooth Disease Type 2c 41 22
Hereditary Motor and Sensory Neuropathy, Type Iic 60
Charcot-Marie-Tooth Disease, Axonal, Type 2c 41
Hereditary Motor and Sensory Neuropathy 2 C 41
 
Charcot-Marie-Tooth Disease, Type 2c 60
Hmsn 2 C 41
Cmt 2c 41
Cmt2c 43


Classifications:



Summaries for Charcot-Marie-Tooth Disease Type 2c

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NIH Rare Diseases:41 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 based summary: Charcot-Marie-Tooth Disease Type 2c, also known as charcot marie tooth disease type 2c, is related to autosomal dominant charcot-marie-tooth disease type 2c 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).

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

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Type 4b2
Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type 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 2a charcot-marie-tooth disease type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2k
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

Diseases related to Charcot-Marie-Tooth Disease Type 2c via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant charcot-marie-tooth disease type 2c10.7
2charcot-marie-tooth disease10.6
3tooth disease10.6
4hereditary motor and sensory neuropathy, type iic10.5
5scapuloperoneal spinal muscular atrophy10.0
6charcot-marie-tooth disease, type 2a110.0
7spinal muscular atrophy10.0
8muscular atrophy10.0
9trpv4-associated disorders10.0

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

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

6
id Gene Variation 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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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
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  • Proteins
  • Kits and Assays

Sources for Charcot-Marie-Tooth Disease Type 2c

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet