MCID: HRD094
MIFTS: 40

Hereditary Motor and Sensory Neuropathy, Type Iic

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

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

MalaCards integrated aliases for Hereditary Motor and Sensory Neuropathy, Type Iic:

Name: Hereditary Motor and Sensory Neuropathy, Type Iic 53 13 69
Cmt2c 53 12 55 71 51
Charcot-Marie-Tooth Disease Axonal Type 2c 12 71 14
Hmsn2c 53 12 71
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 12 55
Hereditary Motor and Sensory Neuropathy Type Iic 12 71
Charcot-Marie-Tooth Neuropathy Type 2c 12 71
Hmsn Iic 53 71
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c; Cmt2c 53
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c 53
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 71
Charcot-Marie-Tooth Neuropathy, Type 2c 53
Charcot-Marie-Tooth Disease 2c 71

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
phenotypic variability
variable age at onset (range birth to 60 years)
earlier onset associated with increased severity
worsening of hand weakness with cold (in some)
clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, )


HPO:

31
hereditary motor and sensory neuropathy, type iic:
Onset and clinical course incomplete penetrance onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

UniProtKB/Swiss-Prot : 71 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, axonal, type 2i, 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 is Mitophagy - animal. Related phenotypes are behavior/neurological and homeostasis/metabolism

OMIM : 53 HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal neuropathy with diaphragmatic and vocal cord paresis. Age at onset and severity is variable (Dyck et al., 1994; summary by Klein et al., 2011). (606071)

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

Related Diseases for Hereditary Motor and Sensory Neuropathy, Type Iic

Diseases in the Hereditary Motor and Sensory Neuropathy V family:

Neuropathy, Hereditary Motor and Sensory, Type Via Hereditary Motor and Sensory Neuropathy, Type Iic
Neuropathy, Hereditary Motor and Sensory, Type Vib

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2c 11.5
2 charcot-marie-tooth disease, axonal, type 2i 10.3 KIF1B MPZ
3 charcot-marie-tooth disease, axonal, type 2j 10.3 KIF1B MPZ
4 charcot-marie-tooth neuropathy type 1 10.3 GJB1 MPZ
5 charcot-marie-tooth disease, axonal, type 2n 10.3 KIF1B TRPV4
6 charcot-marie-tooth disease, demyelinating, type 1f 10.3 GJB1 MPZ
7 deafness, autosomal dominant 49 10.2 HRAS MPZ
8 amyotrophic neuralgia 10.2 GJB1 KIF1B
9 deafness, autosomal dominant 7 10.2 HRAS MPZ
10 charcot-marie-tooth disease, axonal, type 2f 10.2 GJB1 KIF1B MPZ
11 charcot-marie-tooth disease, demyelinating, type 1b 10.1 GJB1 KIF1B MPZ
12 charcot-marie-tooth disease, x-linked dominant, 1 10.1 GDAP1 GJB1 MPZ
13 charcot-marie-tooth disease, axonal, type 2l 10.1 KIF1B MPZ
14 spastic paraplegia 57, autosomal recessive 10.0 SPG11 TFG
15 congenital hypomyelination neuropathy 10.0 MPZ NDRG1
16 charcot-marie-tooth neuropathy type 2a 10.0 KIF1B MFN2
17 charcot-marie-tooth disease type 2a 10.0 KIF1B MFN2
18 charcot-marie-tooth disease, axonal, type 2a1 10.0 KIF1B MFN2
19 hypertrophic neuropathy of dejerine-sottas 9.9 GDAP1 GJB1 KIF1B MPZ
20 scapuloperoneal spinal muscular atrophy 9.9
21 spinal muscular atrophy 9.9
22 muscular atrophy 9.9
23 charcot-marie-tooth disease, axonal, type 2b 9.8 GJB1 KIF1B MPZ RAB7A
24 peripheral nervous system disease 9.5 GDAP1 GJB1 MFN2 MPZ
25 axonal neuropathy 9.5 GDAP1 MFN2 SPG11 TRPV4
26 spastic paraplegia 7, autosomal recessive 9.5 MFN2 SPG11
27 charcot-marie-tooth disease, demyelinating, type 1d 9.4 GJB1 KIF1B MPZ NDRG1 TFG
28 charcot-marie-tooth disease, demyelinating, type 1c 9.4 GJB1 KIF1B MPZ NDRG1 TFG
29 roussy-levy hereditary areflexic dystasia 9.4 GDAP1 KIF1B MFN2 MPZ TRPV4
30 neuropathy, hereditary, with liability to pressure palsies 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ
31 charcot-marie-tooth disease, demyelinating, type 1a 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ
32 charcot-marie-tooth disease and deafness 9.3 GDAP1 GJB1 KIF1B MFN2 MPZ
33 hereditary neuropathies 9.3 GJB1 MFN2 MPZ NDRG1
34 charcot-marie-tooth disease, axonal, type 2k 9.3 GDAP1 KIF1B MFN2 RAB7A TRPV4
35 neuropathy 9.2 GDAP1 GJB1 MFN2 MPZ TFG
36 charcot-marie-tooth disease, type 4d 9.1 GDAP1 GJB1 MFN2 NDRG1 TRPV4
37 sensory peripheral neuropathy 9.1 GDAP1 GJB1 MFN2 MPZ NDRG1
38 motor peripheral neuropathy 8.8 GJB1 KIF1B MFN2 MPZ NDRG1 TFG
39 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 8.6 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
40 tooth disease 8.3 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
41 charcot-marie-tooth disease, axonal, type 2e 8.3 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
42 charcot-marie-tooth disease 7.8 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1

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 via clinical synopsis from OMIM:

53
Respiratory:
stridor
obstructive sleep apnea
respiratory failure due to intercostal muscle and diaphragm involvement

SkeletalFeet:
pes cavus
hammertoes

RespiratoryLarynx:
vocal cord paresis

GenitourinaryBladder:
urinary incontinence
urinary urgency

HeadAndNeckEars:
hearing loss, sensorineural

Voice:
hoarse voice due to vocal cord paresis

SkeletalSpine:
scoliosis

NeurologicPeripheralNervousSystem:
areflexia
hyporeflexia
vocal cord paresis
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
more
HeadAndNeckEyes:
oculomotor nerve palsy
abducens nerve palsy

MuscleSoftTissue:
shoulder girdle muscle atrophy
'sloping' shoulders due to muscle atrophy
neurogenic atrophy seen on muscle biopsy

GrowthHeight:
short stature (in some patients)


Clinical features from OMIM:

606071

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

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 stridor 31 HP:0010307
2 scoliosis 31 HP:0002650
3 sensorineural hearing impairment 31 HP:0000407
4 short stature 31 occasional (7.5%) HP:0004322
5 sensory neuropathy 31 HP:0000763
6 hand muscle atrophy 31 HP:0009130
7 pes cavus 31 HP:0001761
8 respiratory failure 31 HP:0002878
9 areflexia 31 HP:0001284
10 down-sloping shoulders 31 HP:0200021
11 obstructive sleep apnea 31 HP:0002870
12 hyporeflexia 31 HP:0001265
13 intercostal muscle weakness 31 HP:0004878
14 hammertoe 31 HP:0001765
15 distal muscle weakness 31 HP:0002460
16 vocal cord paresis 31 HP:0001604
17 oculomotor nerve palsy 31 HP:0012246
18 diaphragmatic weakness 31 HP:0009113
19 distal sensory impairment 31 HP:0002936
20 urinary incontinence 31 HP:0000020
21 foot dorsiflexor weakness 31 HP:0009027
22 abducens palsy 31 HP:0011349
23 urinary urgency 31 HP:0000012
24 shoulder girdle muscle atrophy 31 HP:0003724
25 decreased distal sensory nerve action potential 31 HP:0007230

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


urgency of micturition, stridor

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2
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

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

Articles related to Hereditary Motor and Sensory Neuropathy, Type Iic:

# Title Authors Year
1
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. ( 22675077 )
2012
2
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. ( 21115951 )
2010
3
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010

Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
2 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
3 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
4 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
5 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
6 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
7 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
8 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
9 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471

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:

# Super pathways Score Top Affiliating Genes
1 10.61 HRAS MFN2 RAB7A

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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....