MCID: CHR139
MIFTS: 34

Charcot-Marie-Tooth Disease Type 2c malady

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Disease Type 2c

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Charcot-Marie-Tooth Disease Type 2c, also known as hereditary motor and sensory neuropathy, type iic, is related to muscular atrophy and hereditary sensory neuropathy. 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, 60UMLS, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
cmt2c:
Inheritance: Autosomal dominant


Aliases & Descriptions:

charcot-marie-tooth disease type 2c 42
hereditary motor and sensory neuropathy, type iic 46 60
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 neuropathy 2 c 42
hereditary motor and sensory neuropathies 60
hmsn 2 c 42
cmt 2c 42


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OMIM46 606071
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 2c

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease Type 3 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 4 Charcot-Marie-Tooth Disease
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 1e
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 2e
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 Disease Type 4e Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 1e 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 4e 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 top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy29.9TRPV4
2hereditary sensory neuropathy11.2
3neuropathy11.2
4hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
5hereditary motor and sensory neuropathy vi10.7
6optic atrophy10.7
7charcot-marie-tooth hereditary neuropathy10.7
8charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
9neuropathy, hereditary motor and sensory, okinawa type10.6
10charcot-marie-tooth disease10.6
11tooth disease10.6
12charcot-marie-tooth disease type 110.6
13motor peripheral neuropathy10.6
14neuropathy, hereditary motor and sensory, russe type10.6
15charcot-marie-tooth disease type 310.5
16hereditary spastic paraplegia10.5
17paraplegia10.5
18neuropathy, hereditary motor and sensory, lom type10.5
19charcot-marie-tooth disease, dominant intermediate b10.5
20charcot-marie-tooth disease type 2h10.5
21charcot-marie-tooth neuropathy type 2c10.5
22axonal neuropathy10.4
23refsum disease10.4
24juvenile glaucoma10.4
25glaucoma10.4
26hereditary neuropathy with liability to pressure palsies10.4
27charcot-marie-tooth neuropathy type 110.4
28charcot-marie-tooth neuropathy type 4a10.4
29charcot-marie-tooth disease type 1a10.4
30charcot-marie-tooth disease type 1b10.4
31charcot-marie-tooth disease type 1d10.4
32charcot-marie-tooth disease type 2b10.4
33charcot-marie-tooth disease type 2b110.4
34charcot-marie-tooth disease type 2b210.4
35charcot-marie-tooth disease type 4b210.4
36cowchock syndrome10.4
37hereditary neuropathies10.4
38charcot-marie-tooth disease - deafness - intellectual deficit10.4
39lambert-eaton myasthenic syndrome10.3
40charcot-marie-tooth disease type 410.3
41superior mesenteric artery syndrome10.3
42sensory peripheral neuropathy10.3
43neuronitis10.3
44cochlear disease10.3
45autonomic neuropathy10.3
46chromosomal disease10.3
47chronic polyneuropathy10.3
48demyelinating polyneuropathy10.3
49gonadal dysgenesis10.3
50multiple sclerosis10.3

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



Diseases related to charcot-marie-tooth disease type 2c

Clinical Features for Charcot-Marie-Tooth Disease Type 2c

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46OMIM
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Clinical features from OMIM:

606071

Clinical synopsis from OMIM:

606071

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2c

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2c

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

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2c

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

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22GTR
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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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Genetic Variations for Charcot-Marie-Tooth Disease Type 2c

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

62
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

Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 2c

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet