MCID: CHR139
MIFTS: 24

Charcot-Marie-Tooth Disease Type 2c malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases

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

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Aliases & Descriptions for Charcot-Marie-Tooth Disease Type 2c:

Name: Charcot-Marie-Tooth Disease Type 2c 45
Charcot-Marie-Tooth Disease, Axonal, Type 2c 45
Hereditary Motor and Sensory Neuropathy 2 C 45
Charcot-Marie-Tooth Disease, Type 2c 65
 
Charcot Marie Tooth Disease Type 2c 45
Charcot-Marie-Tooth Disease 2c 24
Hmsn 2 C 45
Cmt 2c 45

Classifications:



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UMLS65 C2079540

Summaries for Charcot-Marie-Tooth Disease Type 2c

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NIH Rare Diseases:45 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 charcot-marie-tooth disease, axonal, type 2c, is related to autosomal dominant charcot-marie-tooth disease type 2c and hereditary motor and sensory neuropathy, type iic. An important gene associated with Charcot-Marie-Tooth Disease Type 2c is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and bone marrow.

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 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 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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 2h 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 2p
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

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

idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant charcot-marie-tooth disease type 2c12.8
2hereditary motor and sensory neuropathy, type iic12.2
3neuroblastoma10.6
4aniridia10.6

Symptoms for Charcot-Marie-Tooth Disease Type 2c

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

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Interventional clinical trials:

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

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

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Anatomical Context for Charcot-Marie-Tooth Disease Type 2c

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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2c:

33
Bone, Bone marrow

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
Are anti-ribosomal P protein antibodies relevant in systemic lupus erythematosus? (17426359)
2007
2
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. (11438888)
2001
3
Transplantation of syngenic bone marrow contaminated with NGFr-marked WEHI-3B cells: an improved model of leukemia relapse in mice. (10720142)
2000
4
Epo-induced hemoglobinization of SKT6 cells is mediated by minimal cytoplasmic domains of the Epo or prolactin receptors without modulation of GATA-1 or EKLF. (9255607)
1997

Variations for Charcot-Marie-Tooth Disease Type 2c

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
2TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
3TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
4TRPV4NM_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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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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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease Type 2c

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Sources for Charcot-Marie-Tooth Disease Type 2c

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet