MCID: CHR139
MIFTS: 17

Charcot-Marie-Tooth Disease Type 2c

Categories: Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases, Genetic 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 49 28
Charcot-Marie-Tooth Disease, Axonal, Type 2c 49
Hereditary Motor and Sensory Neuropathy 2 C 49
Charcot-Marie-Tooth Disease, Type 2c 69
Charcot Marie Tooth Disease Type 2c 49
Hmsn 2 C 49
Cmt 2c 49

Classifications:



External Ids:

UMLS 69 C2079540

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 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 12.2
2 charcot-marie-tooth disease 10.5
3 tooth disease 10.5
4 muscular atrophy 10.3

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:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2c 28 TRPV4

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:

# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
2 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
3 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
4 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
5 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
6 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
7 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
8 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
9 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471

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
27 GO
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29 HGMD
30 HMDB
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58 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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