MCID: CHR139
MIFTS: 21

Charcot-Marie-Tooth Disease Type 2c

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 54 30 6
Charcot-Marie-Tooth Disease, Axonal, Type 2c 54
Hereditary Motor and Sensory Neuropathy 2 C 54
Charcot-Marie-Tooth Disease, Type 2c 74
Charcot Marie Tooth Disease Type 2c 54
Hmsn 2 C 54
Cmt 2c 54

Classifications:



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UMLS 74 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, and has symptoms including stridor and urgency of micturition. 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 Type X
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
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 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 12.6
2 charcot-marie-tooth disease 10.7
3 tooth disease 10.7
4 muscular atrophy 10.5
5 scapuloperoneal spinal muscular atrophy 10.4
6 neuronopathy, distal hereditary motor, type viii 10.4

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2c:



Diseases related to Charcot-Marie-Tooth Disease Type 2c

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

UMLS symptoms related to Charcot-Marie-Tooth Disease Type 2c:


stridor, urgency of micturition

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 30 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:

(show all 19)
# 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
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26162716 )
2015
3
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. ( 24789864 )
2014
4
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. ( 22675077 )
2012
5
Muscle MRI in TRPV4-related congenital distal SMA. ( 22291064 )
2012
6
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. ( 22065612 )
2011
7
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. ( 21288981 )
2011
8
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. ( 21336783 )
2011
9
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. ( 20037586 )
2010
10
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
11
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. ( 21115951 )
2010
12
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. ( 20037588 )
2010
13
Channelopathies converge on TRPV4. ( 20104247 )
2010
14
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. ( 15668982 )
2005
15
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. ( 12062259 )
2002
16
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. ( 10463355 )
1999
17
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. ( 8179305 )
1994
18
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. ( 1520078 )
1992
19
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. ( 4056805 )
1985

Variations for Charcot-Marie-Tooth Disease Type 2c

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

6 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh38 Chromosome 12, 109792396: 109792396
3 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
4 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh38 Chromosome 12, 109792695: 109792695
5 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
6 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
7 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
8 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
9 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
10 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
11 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
12 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
13 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
14 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
15 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
16 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
17 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
18 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh38 Chromosome 12, 109793560: 109793560
19 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
20 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
21 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
22 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
23 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
24 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
25 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
26 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
27 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
28 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
29 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
30 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
31 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
32 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
33 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
34 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
35 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
36 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
37 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
38 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
39 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
40 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
41 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
42 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
43 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
44 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
45 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
46 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
47 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
48 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
49 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
50 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786

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

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