MCID: CHR139
MIFTS: 17

Charcot-Marie-Tooth Disease Type 2c

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Metabolic diseases, Muscle 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 53 29 6
Charcot-Marie-Tooth Disease, Axonal, Type 2c 53
Hereditary Motor and Sensory Neuropathy 2 C 53
Charcot-Marie-Tooth Disease, Type 2c 73
Charcot Marie Tooth Disease Type 2c 53
Hmsn 2 C 53
Cmt 2c 53

Classifications:



External Ids:

UMLS 73 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 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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 12.4
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 29 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
(show top 50) (show all 240)
# 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.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
4 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
5 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
6 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
7 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
8 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
9 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
10 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
11 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
12 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh38 Chromosome 12, 109793560: 109793560
13 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
14 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
15 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
16 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
17 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
18 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
19 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
20 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
21 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
22 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
23 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
24 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
25 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
26 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
27 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
28 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
29 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
30 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
31 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
32 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
33 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
34 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
35 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
36 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
37 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
38 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
39 TRPV4 NM_021625.4(TRPV4): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs201927283 GRCh38 Chromosome 12, 109814516: 109814516
40 TRPV4 NM_021625.4(TRPV4): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs201927283 GRCh37 Chromosome 12, 110252321: 110252321
41 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
42 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
43 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
44 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
45 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
46 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
47 TRPV4 NM_021625.4(TRPV4): c.593C> G (p.Ala198Gly) single nucleotide variant Uncertain significance rs775317084 GRCh37 Chromosome 12, 110240915: 110240915
48 TRPV4 NM_021625.4(TRPV4): c.593C> G (p.Ala198Gly) single nucleotide variant Uncertain significance rs775317084 GRCh38 Chromosome 12, 109803110: 109803110
49 TRPV4 NM_021625.4(TRPV4): c.114T> A (p.Asn38Lys) single nucleotide variant Uncertain significance rs878853090 GRCh37 Chromosome 12, 110252488: 110252488
50 TRPV4 NM_021625.4(TRPV4): c.114T> A (p.Asn38Lys) single nucleotide variant Uncertain significance rs878853090 GRCh38 Chromosome 12, 109814683: 109814683

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....