MCID: CHR139
MIFTS: 25

Charcot-Marie-Tooth Disease Type 2c malady

Neuronal category

Summaries for Charcot-Marie-Tooth Disease Type 2c

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 charcot-marie-tooth hereditary 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:47 606071

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

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cmt2c:
Inheritance: Autosomal dominant


Aliases & Descriptions:

charcot-marie-tooth disease type 2c 43
hereditary motor and sensory neuropathy, type iic 47 61
charcot marie tooth disease type 2c 43 22
cmt2c 45 49
autosomal dominant charcot-marie-tooth disease type 2c 49
charcot-marie-tooth disease, axonal, type 2c 43
hereditary motor and sensory neuropathy 2 c 43
hereditary motor and sensory neuropathies 61
hmsn 2 c 43
cmt 2c 43


External Ids:

OMIM47 606071
ICD10 via Orphanet26 G60.0

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

Sources:
17GeneCards, 18GeneDecks
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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 4 charcot-marie-tooth disease type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy30.0TRPV4
2charcot-marie-tooth hereditary neuropathy10.7
3hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.7
4charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
5hereditary motor and sensory neuropathy vi10.7
6tooth disease10.6
7motor peripheral neuropathy10.6
8n syndrome10.6
9corpus callosum agenesis10.6
10neuropathy, hereditary motor and sensory, okinawa type10.6
11hereditary neuropathies10.6
12hereditary spastic paraplegia10.5
13neuropathy, hereditary motor and sensory, russe type10.5
14charcot-marie-tooth disease type 2h10.5
15charcot-marie-tooth neuropathy type 2c10.5
16axonal neuropathy10.5
17charcot-marie-tooth disease type 110.5
18charcot-marie-tooth disease type 310.5
19refsum disease10.5
20juvenile glaucoma10.5
21hereditary neuropathy with liability to pressure palsies10.5
22neuropathy, hereditary motor and sensory, lom type10.5
23glaucoma, hereditary10.5
24neuropathy sensory spastic paraplegia10.5
25lambert-eaton myasthenic syndrome10.3
26superior mesenteric artery syndrome10.3
27sensory peripheral neuropathy10.3
28cochlear disease10.3
29autonomic neuropathy10.3
30charcot-marie-tooth neuropathy type 110.3
31charcot-marie-tooth neuropathy type 210.3
32charcot-marie-tooth neuropathy type 4a10.3
33aplasia cutis congenita10.3
34auditory neuropathy10.3
35lambert syndrome10.3
36charcot-marie-tooth disease type 1a10.3
37charcot-marie-tooth disease type 1b10.3
38charcot-marie-tooth disease type 1d10.3
39charcot-marie-tooth disease type 2a10.3
40charcot-marie-tooth disease type 2b10.3
41charcot-marie-tooth disease type 2b110.3
42charcot-marie-tooth disease type 2b210.3
43charcot-marie-tooth disease type 4b210.3
44cowchock syndrome10.3
45chronic inflammatory demyelinating polyneuropathy10.3
46hansen's disease10.3
47motor sensory neuropathy type 1 aplasia cutis congenita10.3
48keratoderma10.3
49hereditary sensory neuropathy type id10.3
50mental retardation10.3

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

Sources:
47OMIM
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Clinical features from OMIM:

606071

Clinical synopsis from OMIM:

606071

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Animal Models for Charcot-Marie-Tooth Disease Type 2c or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Charcot-Marie-Tooth Disease Type 2c

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

63
id Symbol AA change Variation 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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2c

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet