MCID: HRD094
MIFTS: 20

Hereditary Motor and Sensory Neuropathy, Type Iic malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Eye diseases categories

Aliases & Classifications for Hereditary Motor and Sensory Neuropathy, Type Iic

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Hereditary Motor and Sensory Neuropathy, Type Iic, Aliases & Descriptions:

Name: Hereditary Motor and Sensory Neuropathy, Type Iic 45 10
 
Charcot-Marie-Tooth Neuropathy Type 2c 20


Classifications:



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OMIM45 606071

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

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OMIM:45 HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal... (606071) more...

MalaCards based summary: Hereditary Motor and Sensory Neuropathy, Type Iic, also known as charcot-marie-tooth neuropathy type 2c, is related to charcot-marie-tooth disease type 2c and autosomal dominant charcot-marie-tooth disease type 2c, and has symptoms including short stature, autosomal dominant inheritance and urinary urgency. An important gene associated with Hereditary Motor and Sensory Neuropathy, Type Iic is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Related Diseases for Hereditary Motor and Sensory Neuropathy, Type Iic

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Diseases in the Hereditary Motor and Sensory Neuropathy Vi family:

Hereditary Motor and Sensory Neuropathy V hereditary motor and sensory neuropathy, type iic

Diseases related to Hereditary Motor and Sensory Neuropathy, Type Iic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease type 2c10.5
2autosomal dominant charcot-marie-tooth disease type 2c10.5
3brachyolmia type 310.1TRPV4
4muscular atrophy10.1TRPV4
5parastremmatic dwarfism10.1TRPV4
6metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Hereditary Motor and Sensory Neuropathy, Type Iic:



Diseases related to hereditary motor and sensory neuropathy, type iic

Symptoms for Hereditary Motor and Sensory Neuropathy, Type Iic

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Symptoms by clinical synopsis from OMIM:

606071

Clinical features from OMIM:

606071

HPO human phenotypes related to Hereditary Motor and Sensory Neuropathy, Type Iic:

(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 Hereditary Motor and Sensory Neuropathy, Type Iic

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Drug clinical trials:

Search ClinicalTrials for Hereditary Motor and Sensory Neuropathy, Type Iic

Search NIH Clinical Center for Hereditary Motor and Sensory Neuropathy, Type Iic

Genetic Tests for Hereditary Motor and Sensory Neuropathy, Type Iic

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Genetic tests related to Hereditary Motor and Sensory Neuropathy, Type Iic:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2c20 TRPV4

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

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Animal Models for Hereditary Motor and Sensory Neuropathy, Type Iic or affiliated genes

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Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

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Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Motor and Sensory Neuropathy, Type Iic:

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

Clinvar genetic disease variations for Hereditary Motor and Sensory Neuropathy, Type Iic:

6
id Gene Variation 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.947G> A (p.Arg316His)single nucleotide variantPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
3TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397514494GRCh37Chr 12, 110246103: 110246103

Expression for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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Search GEO for disease gene expression data for Hereditary Motor and Sensory Neuropathy, Type Iic.

Pathways for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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Compounds for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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GO Terms for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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Products for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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  • Antibodies
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Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet