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 49 11 22 65
Cmt2c 22 47 67
Charcot-Marie-Tooth Neuropathy Type 2c 22 67
Hmsn Iic 22 67
Hmsn2c 22 67
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 67
 
Hereditary Motor and Sensory Neuropathy Type Iic 67
Charcot-Marie-Tooth Disease Axonal Type 2c 67
Charcot-Marie-Tooth Disease, Type 2c 65
Charcot-Marie-Tooth Disease 2c 67
Cmt 2c 22

Characteristics:

HPO:

61
hereditary motor and sensory neuropathy, type iic:
Onset and clinical course: incomplete penetrance, onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 606071
MeSH36 D002607
UMLS65 C1853710, C2079540

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

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UniProtKB/Swiss-Prot:67 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 autosomal dominant charcot-marie-tooth disease type 2c and charcot-marie-tooth disease type 2c, and has symptoms including short stature, down-sloping shoulders and oculomotor nerve palsy. An important gene associated with Hereditary Motor and Sensory Neuropathy, Type Iic is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include eye.

OMIM:49 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 down-sloping shoulders HP:0200021
3 oculomotor nerve palsy HP:0012246
4 abducens palsy HP:0011349
5 stridor HP:0010307
6 hand muscle atrophy HP:0009130
7 diaphragmatic weakness HP:0009113
8 foot dorsiflexor weakness HP:0009027
9 decreased distal sensory nerve action potential HP:0007230
10 intercostal muscle weakness HP:0004878
11 shoulder girdle muscle atrophy HP:0003724
12 distal sensory impairment HP:0002936
13 respiratory failure HP:0002878
14 obstructive sleep apnea HP:0002870
15 scoliosis HP:0002650
16 distal muscle weakness HP:0002460
17 hammertoe HP:0001765
18 pes cavus HP:0001761
19 vocal cord paresis HP:0001604
20 areflexia HP:0001284
21 hyporeflexia HP:0001265
22 sensorineural hearing impairment HP:0000407
23 urinary incontinence HP:0000020
24 urinary urgency HP:0000012

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 2c22 TRPV4

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

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MalaCards organs/tissues related to Hereditary Motor and Sensory Neuropathy, Type Iic:

33
Eye

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:

67
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:

5
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.694C> T (p.Arg232Cys)single nucleotide variantPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
3TRPV4NM_021625.4(TRPV4): c.947G> A (p.Arg316His)single nucleotide variantPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
4TRPV4NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
5TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
6TRPV4NM_021625.4(TRPV4): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
7TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
8TRPV4NM_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
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