MCID: CHR139
MIFTS: 34

Charcot-Marie-Tooth Disease Type 2c malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 2c

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NIH Rare Diseases:42 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 hereditary motor and sensory neuropathy, type iic, is related to muscular atrophy and charcot-marie-tooth disease, and has symptoms including An important gene associated with Charcot-Marie-Tooth Disease Type 2c is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:46 606071

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

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Charcot-Marie-Tooth Disease Type 2c, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease Type 2c 42
Hereditary Motor and Sensory Neuropathy, Type Iic 46 62
Hereditary Motor and Sensory Neuropathy 2 C 42 62
Charcot Marie Tooth Disease Type 2c 42 22
Cmt2c 44 48
 
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 48
Charcot-Marie-Tooth Disease, Axonal, Type 2c 42
Hereditary Motor and Sensory Neuropathies 62
Hmsn 2 C 42
Cmt 2c 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cmt2c:
Inheritance: Autosomal dominant


External Ids:

OMIM46 606071
ICD10 via Orphanet26 G60.0

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 Type 2 Charcot-Marie-Tooth Disease Type 1
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 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 1a Charcot-Marie-Tooth Disease Type 1b
Charcot-Marie-Tooth Disease Type 1c Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease Type 1f Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Disease Type 2b1
Charcot-Marie-Tooth Disease Type 2b2 charcot-marie-tooth disease type 2c
Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 4b1
Charcot-Marie-Tooth Disease Type 4b2 Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy Type 1a Charcot-Marie-Tooth Neuropathy Type 1d
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2r Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 4b3 Surf1-Related Charcot-Marie-Tooth Disease Type 4

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy30.2TRPV4
2charcot-marie-tooth disease10.6
3tooth disease10.6
4charcot-marie-tooth disease type 2h10.5
5brachyolmia type 310.1TRPV4
6parastremmatic dwarfism10.1TRPV4
7spinal muscular atrophy10.0
8trpv4-associated disorders10.0
9charcot-marie-tooth disease, type 2a110.0
10charcot-marie-tooth disease, type 2a210.0
11short stature10.0
12metatropic dysplasia10.0TRPV4

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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Symptoms by clinical synopsis from OMIM:

606071

Clinical features from OMIM:

606071

HPO human phenotypes related to Charcot-Marie-Tooth Disease Type 2c:

(show all 27)
id Description Frequency HPO Source Accession
1 short stature rare (5%) HP:0004322
2 autosomal dominant inheritance HP:0000006
3 urinary urgency HP:0000012
4 urinary incontinence HP:0000020
5 sensorineural hearing impairment HP:0000407
6 hyporeflexia HP:0001265
7 areflexia HP:0001284
8 vocal cord paresis HP:0001604
9 pes cavus HP:0001761
10 hammertoe HP:0001765
11 distal muscle weakness HP:0002460
12 scoliosis HP:0002650
13 obstructive sleep apnea HP:0002870
14 respiratory failure HP:0002878
15 distal sensory impairment HP:0002936
16 onset HP:0003674
17 shoulder girdle muscle atrophy HP:0003724
18 incomplete penetrance HP:0003829
19 intercostal muscle weakness HP:0004878
20 decreased distal sensory nerve action potential HP:0007230
21 foot dorsiflexor weakness HP:0009027
22 diaphragmatic weakness HP:0009113
23 hand muscle atrophy HP:0009130
24 stridor HP:0010307
25 abducens palsy HP:0011349
26 oculomotor nerve palsy HP:0012246
27 down-sloping shoulders HP:0200021

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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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269CysVAR_063528
2TRPV4p.Arg269HisVAR_063529
3TRPV4p.Arg316CysVAR_063530
4TRPV4p.Arg315TrpVAR_063541
5TRPV4p.Arg232CysVAR_067990
6TRPV4p.Arg316HisVAR_067991
7TRPV4p.Ser542TyrVAR_067993

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

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2c

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
  • Proteins
  • Lysates

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet