CMT2C
MCID: HRD094
MIFTS: 34

Hereditary Motor and Sensory Neuropathy, Type Iic (CMT2C) malady

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

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

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

Name: Hereditary Motor and Sensory Neuropathy, Type Iic 54 24 13 69
Cmt2c 12 24 56 66 52
Charcot-Marie-Tooth Disease Axonal Type 2c 12 66 14
Charcot-Marie-Tooth Neuropathy Type 2c 12 24 66
Hmsn2c 12 24 66
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 12 56
Hereditary Motor and Sensory Neuropathy Type Iic 12 66
Hmsn Iic 24 66
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 66
Charcot-Marie-Tooth Disease 2c 66
Cmt 2c 24

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
hereditary motor and sensory neuropathy, type iic:
Inheritance autosomal dominant inheritance
Onset and clinical course onset incomplete penetrance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606071
Disease Ontology 12 DOID:0110182
ICD10 33 G60.0
Orphanet 56 ORPHA99937
ICD10 via Orphanet 34 G60.0
MeSH 42 D002607

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

UniProtKB/Swiss-Prot : 66 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 2a1 and charcot-marie-tooth disease type 2c, and has symptoms including stridor, scoliosis and sensorineural hearing impairment. An important gene associated with Hereditary Motor and Sensory Neuropathy, Type Iic is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Mitophagy - animal and Thyroid cancer. Related phenotypes are behavior/neurological and homeostasis/metabolism

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

OMIM : 54 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

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 Gdap1-Related Hereditary Motor and Sensory Neuropathy

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2a1 31.3 KIF1B MFN2
2 charcot-marie-tooth disease type 2c 11.4
3 charcot-marie-tooth disease, type 2i 10.2 KIF1B MPZ
4 charcot-marie-tooth disease, dominant intermediate d 10.2 KIF1B MPZ
5 aneurysmal bone cysts 10.2 KIF1B TRPV4
6 chrna1-related congenital myasthenic syndrome 10.2 GJB1 MPZ
7 surfactant metabolism dysfunction, pulmonary, 2 10.2 GJB1 MPZ
8 systemic lupus erythematosus 14 10.2 HRAS MPZ
9 deafness, autosomal dominant 49 10.1 HRAS MPZ
10 williams-beuren syndrome 10.1 GJB1 KIF1B MPZ
11 pneumonic plague 10.1 GJB1 KIF1B MPZ
12 aortic aneurysm, familial thoracic 4 10.1 KIF1B MPZ
13 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.1 KIF1B MPZ
14 acute sanguinous otitis media 10.1 GJB1 KIF1B MPZ
15 charcot-marie-tooth disease, type 1e 10.1 GJB1 KIF1B MPZ
16 spermatogenic failure, x-linked, 2 10.1 GDAP1 GJB1 MPZ
17 deafness, autosomal recessive 76 10.1 GDAP1 GJB1 MPZ
18 chondrodysplasia punctata 2, x-linked 10.1 KIF1B TRPV4
19 joubert syndrome 8 10.1 SPG11 TFG
20 charles bonnet syndrome 10.0 KIF1B MFN2
21 potocki-lupski syndrome 10.0 GDAP1 GJB1 KIF1B MPZ
22 neuropathy, congenital hypomyelinating 10.0 GDAP1 GJB1 KIF1B MPZ
23 classic galactosemia and clinical variant galactosemia 10.0 GJB1 MPZ
24 cold-induced sweating syndrome including crisponi syndrome 10.0 KIF1B MFN2
25 hypertrophic osteoarthropathy, primary, autosomal recessive 2 10.0 GJB1 KIF1B MPZ RAB7A
26 pituitary adenoma, prolactin-secreting 9.9 MFN2 MPZ TRPV4
27 chkb-related muscle diseases 9.8 GDAP1 GJB1 MFN2 MPZ
28 uterine ligament serous adenocarcinoma 9.8 GDAP1 GJB1 MFN2 MPZ
29 scapuloperoneal spinal muscular atrophy 9.8
30 spinal muscular atrophy 9.8
31 muscular atrophy 9.8
32 nephrolithiasis, uric acid 9.8 GJB1 KIF1B MPZ NDRG1 TFG
33 neuropathy, inflammatory demyelinating 9.7 GDAP1 GJB1 KIF1B MFN2 MPZ
34 korsakoff's amnesic syndrome 9.7 GJB1 MFN2 MPZ NDRG1
35 carotid body cancer 9.7 GDAP1 GJB1 MFN2 MPZ TRPV4
36 mitochondrial complex v deficiency, nuclear type 2 9.7 GDAP1 KIF1B MFN2 RAB7A TRPV4
37 dejerine-sottas disease 9.6 GDAP1 GJB1 KIF1B MFN2 MPZ TRPV4
38 thrombophilia due to antithrombin iii deficiency 9.6 GDAP1 GJB1 KIF1B MFN2 MPZ TRPV4
39 5-oxoprolinase deficiency 9.6 GDAP1 GJB1 MFN2 NDRG1 TRPV4
40 senile angioma 9.6 GDAP1 GJB1 MFN2 MPZ NDRG1
41 conotruncal heart malformations 9.5 GDAP1 GJB1 KIF1B MFN2 MPZ TFG
42 infantile epileptic encephalopathy 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
43 charcot-marie-tooth disease, type 2j 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
44 wernicke-korsakoff syndrome 9.2 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
45 chromophobe renal cell carcinoma 8.9 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
46 parastremmatic dwarfism 8.5 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2

Graphical network of the top 20 diseases related to Hereditary Motor and Sensory Neuropathy, Type Iic:



Diseases related to Hereditary Motor and Sensory Neuropathy, Type Iic

Symptoms & Phenotypes for Hereditary Motor and Sensory Neuropathy, Type Iic

Symptoms by clinical synopsis from OMIM:

606071

Clinical features from OMIM:

606071

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

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 stridor 32 HP:0010307
2 scoliosis 32 HP:0002650
3 sensorineural hearing impairment 32 HP:0000407
4 short stature 32 HP:0004322
5 sensory neuropathy 32 HP:0000763
6 hand muscle atrophy 32 HP:0009130
7 pes cavus 32 HP:0001761
8 respiratory failure 32 HP:0002878
9 areflexia 32 HP:0001284
10 down-sloping shoulders 32 HP:0200021
11 obstructive sleep apnea 32 HP:0002870
12 hyporeflexia 32 HP:0001265
13 intercostal muscle weakness 32 HP:0004878
14 hammertoe 32 HP:0001765
15 distal muscle weakness 32 HP:0002460
16 vocal cord paresis 32 HP:0001604
17 oculomotor nerve palsy 32 HP:0012246
18 diaphragmatic weakness 32 HP:0009113
19 distal sensory impairment 32 HP:0002936
20 urinary incontinence 32 HP:0000020
21 abducens palsy 32 HP:0011349
22 urinary urgency 32 HP:0000012
23 foot dorsiflexor weakness 32 HP:0009027
24 shoulder girdle muscle atrophy 32 HP:0003724
25 decreased distal sensory nerve action potential 32 HP:0007230

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


stridor

MGI Mouse Phenotypes related to Hereditary Motor and Sensory Neuropathy, Type Iic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 MPZ NDRG1 SPG11 TRPV4 ATXN2 GDAP1
2 homeostasis/metabolism MP:0005376 9.61 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2
3 nervous system MP:0003631 9.32 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2

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

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

Genetic Tests for Hereditary Motor and Sensory Neuropathy, Type Iic

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2c 24 TRPV4

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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

66
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg269Cys VAR_063528 rs267607146
2 TRPV4 p.Arg269His VAR_063529 rs267607144
3 TRPV4 p.Arg316Cys VAR_063530 rs267607145
4 TRPV4 p.Arg315Trp VAR_063541 rs267607143
5 TRPV4 p.Arg232Cys VAR_067990 rs387906904
6 TRPV4 p.Arg316His VAR_067991 rs387906905
7 TRPV4 p.Ser542Tyr VAR_067993 rs387906902

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
3 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
4 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
5 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
6 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
7 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
8 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103

Expression for Hereditary Motor and Sensory Neuropathy, Type Iic

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

Pathways for Hereditary Motor and Sensory Neuropathy, Type Iic

Pathways related to Hereditary Motor and Sensory Neuropathy, Type Iic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.61 HRAS MFN2 RAB7A
2 10.42 HRAS TFG

GO Terms for Hereditary Motor and Sensory Neuropathy, Type Iic

Cellular components related to Hereditary Motor and Sensory Neuropathy, Type Iic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.92 KIF1B RAB7A SPG11 TRPV4

Biological processes related to Hereditary Motor and Sensory Neuropathy, Type Iic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 8.96 GDAP1 MFN2
2 mitochondrial fusion GO:0008053 8.62 GDAP1 MFN2

Molecular functions related to Hereditary Motor and Sensory Neuropathy, Type Iic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 KIF1B NDRG1 TRPV4

Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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