MCID: HRD094
MIFTS: 24

Hereditary Motor and Sensory Neuropathy, Type Iic malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Muscle diseases

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

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

Name: Hereditary Motor and Sensory Neuropathy, Type Iic 50 23 12 66
Cmt2c 23 52 68 48
Charcot-Marie-Tooth Neuropathy Type 2c 23 68
Hmsn Iic 23 68
Hmsn2c 23 68
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 68
 
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 52
Hereditary Motor and Sensory Neuropathy Type Iic 68
Charcot-Marie-Tooth Disease Axonal Type 2c 68
Charcot-Marie-Tooth Disease 2c 68
Cmt 2c 23

Characteristics:

Orphanet epidemiological data:

52
cmt2c:
Inheritance: Autosomal dominant

HPO:

62
hereditary motor and sensory neuropathy, type iic:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, incomplete penetrance


Classifications:



External Ids:

OMIM50 606071
Orphanet52 ORPHA99937
ICD10 via Orphanet29 G60.0
MeSH37 D002607

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

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UniProtKB/Swiss-Prot:68 Charcot-Marie-Tooth disease 2C: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary: Hereditary Motor and Sensory Neuropathy, Type Iic, also known as cmt2c, is related to scapuloperoneal spinal muscular atrophy and charcot-marie-tooth disease type 2c, and has symptoms including short stature, urinary urgency and urinary incontinence. An important gene associated with Hereditary Motor and Sensory Neuropathy, Type Iic is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

OMIM:50 HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal... (606071) more...

Related Diseases for Hereditary Motor and Sensory Neuropathy, Type Iic

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

UMLS symptoms related to Hereditary Motor and Sensory Neuropathy, Type Iic:


stridor

Drugs & Therapeutics for Hereditary Motor and Sensory Neuropathy, Type Iic

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Interventional clinical trials:

Search ClinicalTrials, 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 2c23 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:

68
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269CysVAR_063528rs267607146
2TRPV4p.Arg269HisVAR_063529rs267607144
3TRPV4p.Arg316CysVAR_063530rs267607145
4TRPV4p.Arg315TrpVAR_063541rs267607143
5TRPV4p.Arg232CysVAR_067990rs387906904
6TRPV4p.Arg316HisVAR_067991rs387906905
7TRPV4p.Ser542TyrVAR_067993rs387906902

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser)single nucleotide variantPathogenicrs187864727GRCh37Chr 12, 110240859: 110240859
2TRPV4NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr)single nucleotide variantPathogenicrs387906902GRCh37Chr 12, 110231365: 110231365
3TRPV4NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys)single nucleotide variantPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
4TRPV4NM_021625.4(TRPV4): c.947G> A (p.Arg316His)single nucleotide variantPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
5TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
6TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
7TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
8TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
9TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

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

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Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet