MCID: CHR139
MIFTS: 21

Charcot-Marie-Tooth Disease Type 2c

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Muscle diseases, Metabolic diseases, Fetal diseases, Ear diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2c:

Name: Charcot-Marie-Tooth Disease Type 2c 50 29
Charcot-Marie-Tooth Disease, Axonal, Type 2c 50
Hereditary Motor and Sensory Neuropathy 2 C 50
Charcot-Marie-Tooth Disease, Type 2c 69
Charcot Marie Tooth Disease Type 2c 50
Hmsn 2 C 50
Cmt 2c 50

Classifications:



Summaries for Charcot-Marie-Tooth Disease Type 2c

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2c, also known as charcot-marie-tooth disease, axonal, type 2c, is related to hereditary motor and sensory neuropathy, type iic 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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 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 4c
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Type 2d
Charcot-Marie-Tooth Disease, Type 2e Charcot-Marie-Tooth Disease, Type 1f
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4k
Charcot-Marie-Tooth Disease, Type 1d 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, 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, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
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 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease Type 2b5
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Pmp2-Related Charcot-Marie-Tooth Disease Type 1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation

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

id Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 12.0
2 charcot-marie-tooth disease 10.4
3 tooth disease 10.4
4 muscular atrophy 10.2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2c

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

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2c 29

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

Publications for Charcot-Marie-Tooth Disease Type 2c

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

id Title Authors Year
1
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26048687 )
2015
2
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. ( 20037586 )
2010
3
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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
3 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
4 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
5 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
6 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
7 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
8 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103

Expression for Charcot-Marie-Tooth Disease Type 2c

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

Pathways for Charcot-Marie-Tooth Disease Type 2c

GO Terms for Charcot-Marie-Tooth Disease Type 2c

Sources for Charcot-Marie-Tooth Disease Type 2c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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