MCID: HRD094
MIFTS: 23

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 51 24 12 67
Cmt2c 11 24 53 69 49
Charcot-Marie-Tooth Neuropathy Type 2c 11 24 69
Hmsn2c 11 24 69
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 11 53
Hereditary Motor and Sensory Neuropathy Type Iic 11 69
 
Charcot-Marie-Tooth Disease Axonal Type 2c 11 69
Hmsn Iic 24 69
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 11
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 69
Charcot-Marie-Tooth Disease 2c 69
Cmt 2c 24

Characteristics:

Orphanet epidemiological data:

53
cmt2c:
Inheritance: Autosomal dominant

HPO:

63
hereditary motor and sensory neuropathy, type iic:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, incomplete penetrance

Classifications:



External Ids:

OMIM51 606071
Disease Ontology11 DOID:0110182
ICD1029 G60.0
Orphanet53 ORPHA99937
ICD10 via Orphanet30 G60.0
MeSH38 D002607

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

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UniProtKB/Swiss-Prot:69 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 charcot-marie-tooth disease type 2c and charcot-marie-tooth disease, type 2a1, 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).

Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

OMIM:51 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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Diseases in the Hereditary Motor and Sensory Neuropathy Via family:

Hereditary Motor and Sensory Neuropathy V Neuropathy, Hereditary Motor and Sensory, Type Vib
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 2c11.4
2charcot-marie-tooth disease, type 2a110.8
3scapuloperoneal spinal muscular atrophy9.8
4spinal muscular atrophy9.8
5muscular atrophy9.8

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

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

 63 (show all 24)
id Description HPO Frequency HPO Source Accession
1 short stature63 rare (5%) HP:0004322
2 urinary urgency63 HP:0000012
3 urinary incontinence63 HP:0000020
4 sensorineural hearing impairment63 HP:0000407
5 hyporeflexia63 HP:0001265
6 areflexia63 HP:0001284
7 vocal cord paresis63 HP:0001604
8 pes cavus63 HP:0001761
9 hammertoe63 HP:0001765
10 distal muscle weakness63 HP:0002460
11 scoliosis63 HP:0002650
12 obstructive sleep apnea63 HP:0002870
13 respiratory failure63 HP:0002878
14 distal sensory impairment63 HP:0002936
15 shoulder girdle muscle atrophy63 HP:0003724
16 intercostal muscle weakness63 HP:0004878
17 decreased distal sensory nerve action potential63 HP:0007230
18 foot dorsiflexor weakness63 HP:0009027
19 diaphragmatic weakness63 HP:0009113
20 hand muscle atrophy63 HP:0009130
21 stridor63 HP:0010307
22 abducens palsy63 HP:0011349
23 oculomotor nerve palsy63 HP:0012246
24 down-sloping shoulders63 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 2c24 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:

69
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.1625C> A (p.Ser542Tyr)SNVPathogenicrs387906902GRCh37Chr 12, 110231365: 110231365
2TRPV4NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys)SNVPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
3TRPV4NM_021625.4(TRPV4): c.947G> A (p.Arg316His)SNVPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
4TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)SNVLikely pathogenic, Pathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
5TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)SNVPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
6TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)SNVPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
7TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)SNVPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
8TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)SNVPathogenicrs267607146GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet