HMSN2C
MCID: HRD094
MIFTS: 46

Hereditary Motor and Sensory Neuropathy, Type Iic (HMSN2C)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 57 13 72
Cmt2c 57 12 59 74 55
Charcot-Marie-Tooth Disease Axonal Type 2c 12 74 15
Hmsn2c 57 12 74
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 12 59
Hereditary Motor and Sensory Neuropathy Type Iic 12 74
Charcot-Marie-Tooth Neuropathy Type 2c 12 74
Hmsn Iic 57 74
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c; Cmt2c 57
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c 57
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 74
Charcot-Marie-Tooth Neuropathy, Type 2c 57
Charcot-Marie-Tooth Disease 2c 74

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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, )

Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110182
MeSH 44 D002607
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1853710
Orphanet 59 ORPHA99937
UMLS 72 C1853710

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Hereditary Motor and Sensory Neuropathy, Type Iic, also known as cmt2c, is related to axonal neuropathy and neuropathy, and has symptoms including stridor and urgency of micturition. 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 Factors involved in megakaryocyte development and platelet production and Autophagy - animal. Affiliated tissues include skin, and related phenotypes are short stature and scoliosis

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 : 57 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)

Related Diseases for Hereditary Motor and Sensory Neuropathy, Type Iic

Diseases in the Hereditary Motor and Sensory Neuropathy, Type Iic family:

Hereditary Motor and Sensory Neuropathy V

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 axonal neuropathy 30.1 TRPV4 SPG11 MFN2 GDAP1
2 neuropathy 29.7 TFG MPZ MFN2 GJB1 GDAP1
3 sensory peripheral neuropathy 29.6 NDRG1 MPZ MFN2 GJB1 GDAP1
4 tooth disease 28.5 TRPV4 NEFL NDRG1 MPZ MFN2 KIF1B
5 charcot-marie-tooth disease 26.5 TRPV4 TFG SPG11 RAB7A NEFL NDRG1
6 charcot-marie-tooth disease, axonal, type 2n 10.5 TRPV4 KIF1B
7 charcot-marie-tooth disease, axonal, type 2j 10.5 MPZ KIF1B
8 charcot-marie-tooth disease type 2a 10.5 MFN2 KIF1B
9 charcot-marie-tooth disease, axonal, type 2i 10.5 MPZ KIF1B
10 charcot-marie-tooth neuropathy type 2a 10.5 MFN2 KIF1B
11 charcot-marie-tooth disease, axonal, type 2a1 10.5 MFN2 KIF1B
12 amyotrophic neuralgia 10.4 KIF1B GJB1
13 charcot-marie-tooth disease, x-linked dominant, 1 10.4 MPZ GJB1
14 charcot-marie-tooth disease, axonal, type 2f 10.3 MPZ KIF1B GJB1
15 charcot-marie-tooth disease, axonal, type 2d 10.3 MPZ KIF1B GJB1
16 charcot-marie-tooth disease, demyelinating, type 1b 10.3 MPZ KIF1B GJB1
17 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.3 MPZ GJB1
18 charcot-marie-tooth disease, axonal, type 2l 10.3 MPZ KIF1B
19 scapuloperoneal spinal muscular atrophy 10.3
20 spastic paraplegia 57, autosomal recessive 10.2 TFG SPG11
21 charcot-marie-tooth disease, demyelinating, type 1f 10.2 NEFL MPZ GJB1
22 spinocerebellar ataxia 2 10.1
23 ataxia and polyneuropathy, adult-onset 10.1
24 neuronopathy, distal hereditary motor, type viii 10.1
25 spinal muscular atrophy 10.1
26 autosomal dominant cerebellar ataxia 10.1
27 muscular atrophy 10.1
28 charcot-marie-tooth hereditary neuropathy 10.1
29 trpv4-associated disorders 10.1
30 charcot-marie-tooth disease, axonal, type 2b 10.1 RAB7A MPZ KIF1B GJB1
31 spinal muscular atrophy, x-linked 2 10.1
32 sleep apnea 10.1
33 charcot-marie-tooth disease type 2c 10.1
34 skeletal dysplasias 10.1
35 hypertrophic neuropathy of dejerine-sottas 10.1 MPZ KIF1B GJB1 GDAP1
36 optic atrophy 1 10.1 MFN2 MFN1
37 charcot-marie-tooth disease, demyelinating, type 1c 10.0 NEFL MPZ KIF1B GJB1
38 autoimmune peripheral neuropathy 9.9 MPZ GJB1
39 charcot-marie-tooth disease, axonal, type 2k 9.9 TRPV4 RAB7A MFN2 KIF1B GDAP1
40 spastic paraplegia 7, autosomal recessive 9.9 MFN2 MFN1
41 charcot-marie-tooth disease, demyelinating, type 1a 9.8 MPZ MFN2 KIF1B GJB1 GDAP1
42 neuropathy, hereditary, with liability to pressure palsies 9.8 MPZ MFN2 KIF1B GJB1 GDAP1
43 charcot-marie-tooth disease and deafness 9.8 MPZ MFN2 KIF1B GJB1 GDAP1
44 charcot-marie-tooth disease, type 4d 9.7 TRPV4 NDRG1 MFN2 GJB1 GDAP1
45 charcot-marie-tooth disease, demyelinating, type 1d 9.6 TFG NDRG1 MPZ KIF1B GJB1
46 motor peripheral neuropathy 9.3 TFG NDRG1 MPZ MFN2 KIF1B GJB1
47 peripheral nervous system disease 9.0 NEFL MPZ MFN2 MFN1 KIF1B GJB1
48 charcot-marie-tooth disease, axonal, type 2e 8.9 TFG SPG11 NEFL MPZ MFN2 KIF1B

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

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

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 scoliosis 32 HP:0002650
3 sensorineural hearing impairment 32 HP:0000407
4 areflexia 32 HP:0001284
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 down-sloping shoulders 32 HP:0200021
10 obstructive sleep apnea 32 HP:0002870
11 hyporeflexia 32 HP:0001265
12 intercostal muscle weakness 32 HP:0004878
13 foot dorsiflexor weakness 32 HP:0009027
14 urinary urgency 32 HP:0000012
15 urinary incontinence 32 HP:0000020
16 hammertoe 32 HP:0001765
17 distal muscle weakness 32 HP:0002460
18 stridor 32 HP:0010307
19 vocal cord paresis 32 HP:0001604
20 oculomotor nerve palsy 32 HP:0012246
21 diaphragmatic weakness 32 HP:0009113
22 distal sensory impairment 32 HP:0002936
23 cranial nerve vi palsy 32 HP:0006897
24 abducens palsy 32 HP:0011349
25 shoulder girdle muscle atrophy 32 HP:0003724
26 decreased distal sensory nerve action potential 32 HP:0007230

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
hammertoes

Genitourinary Bladder:
urinary urgency
urinary incontinence

Head And Neck Eyes:
oculomotor nerve palsy
abducens nerve palsy

Head And Neck Ears:
hearing loss, sensorineural

Voice:
hoarse voice due to vocal cord paresis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
vocal cord paresis
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
more
Respiratory:
obstructive sleep apnea
stridor
respiratory failure due to intercostal muscle and diaphragm involvement

Respiratory Larynx:
vocal cord paresis

Muscle Soft Tissue:
shoulder girdle muscle atrophy
'sloping' shoulders due to muscle atrophy
neurogenic atrophy seen on muscle biopsy

Growth Height:
short stature (in some patients)

Clinical features from OMIM:

606071

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


stridor, urgency of micturition

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN1
2 homeostasis/metabolism MP:0005376 9.65 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2
3 nervous system MP:0003631 9.4 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN1

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

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

41
Skin

Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

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

(show all 37)
# Title Authors PMID Year
1
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 9 38 8 71
20037587 2010
2
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. 38 8 71
22675077 2012
3
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 38 8 71
21288981 2011
4
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 38 8 71
21115951 2010
5
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 38 8 71
20037586 2010
6
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. 38 8 71
15668982 2005
7
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. 8 71
22065612 2011
8
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 8 71
20037588 2010
9
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. 8 71
10463355 1999
10
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. 8 71
8179305 1994
11
TRPV4-Associated Disorders 38 71
24830047 2014
12
The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. 38 8
12682323 2003
13
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 71
24789864 2014
14
Muscle MRI in TRPV4-related congenital distal SMA. 71
22291064 2012
15
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. 71
21336783 2011
16
Channelopathies converge on TRPV4. 71
20104247 2010
17
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. 8
17948126 2007
18
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 8
11294660 2001
19
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
20
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
21
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 71
1520078 1992
22
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. 71
4056805 1985
23
Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2. 38
31231042 2019
24
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 38
30476010 2018
25
[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]. 38
26602803 2015
26
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. 38
27066566 2015
27
Charcot-Marie-Tooth disease: New insights from skin biopsy. 38
26362287 2015
28
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 38
22419508 2012
29
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. 38
21327736 2011
30
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. 38
21365284 2011
31
Respiratory muscle weakness in peripheral neuropathies. 38
21199102 2010
32
TRPV4-pathy, a novel channelopathy affecting diverse systems. 38
20505684 2010
33
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 38
12481988 2002
34
Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. 38
11231025 2001
35
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. 38
11214130 2001
36
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 38
9409358 1997
37
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. 38
8614538 1996

Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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

6 (show top 50) (show all 187)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 12:110230201-110230201 12:109792396-109792396
2 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 12:110230500-110230500 12:109792695-109792695
3 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 12:110222183-110222183 12:109784378-109784378
4 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
5 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 12:110238471-110238471 12:109800666-109800666
6 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 12:110231365-110231365 12:109793560-109793560
7 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 12:110240814-110240814 12:109803009-109803009
8 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 12:110236625-110236625 12:109798820-109798820
9 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 12:110236624-110236624 12:109798819-109798819
10 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 12:110246103-110246103 12:109808298-109808298
11 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 12:110238470-110238470 12:109800665-109800665
12 TRPV4 NM_021625.4(TRPV4): c.710G> T (p.Arg237Leu) single nucleotide variant Likely pathogenic rs1289139464 12:110240798-110240798 12:109802993-109802993
13 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Likely pathogenic rs267607148 12:110238444-110238444 12:109800639-109800639
14 TRPV4 NM_021625.4(TRPV4): c.2304G> C (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs138986228 12:110224547-110224547 12:109786742-109786742
15 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 12:110238507-110238507 12:109800702-109800702
16 TRPV4 NM_021625.4(TRPV4): c.205A> C (p.Met69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200199102 12:110252397-110252397 12:109814592-109814592
17 TRPV4 NM_021625.4(TRPV4): c.651G> A (p.Ala217=) single nucleotide variant Conflicting interpretations of pathogenicity rs371280831 12:110240857-110240857 12:109803052-109803052
18 TRPV4 NM_021625.4(TRPV4): c.944G> A (p.Arg315Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795696 12:110236627-110236627 12:109798822-109798822
19 TRPV4 NM_021625.4(TRPV4): c.1656del (p.Tyr553fs) deletion Conflicting interpretations of pathogenicity rs541606391 12:110231334-110231334 12:109793529-109793529
20 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 12:110246258-110246258 12:109808453-109808453
21 TRPV4 NM_021625.4(TRPV4): c.1491+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201815805 12:110232124-110232124 12:109794319-109794319
22 TRPV4 NM_021625.4(TRPV4): c.1093G> A (p.Val365Met) single nucleotide variant Conflicting interpretations of pathogenicity rs570675468 12:110236478-110236478 12:109798673-109798673
23 TRPV4 NM_021625.4(TRPV4): c.37G> T (p.Gly13Trp) single nucleotide variant Uncertain significance rs763302555 12:110252565-110252565 12:109814760-109814760
24 TRPV4 NM_021625.4(TRPV4): c.37G> A (p.Gly13Arg) single nucleotide variant Uncertain significance rs763302555 12:110252565-110252565 12:109814760-109814760
25 TRPV4 NM_021625.4(TRPV4): c.2452C> T (p.Arg818Cys) single nucleotide variant Uncertain significance rs776544875 12:110222127-110222127 12:109784322-109784322
26 TRPV4 NM_021625.4(TRPV4): c.1627C> T (p.Leu543Phe) single nucleotide variant Uncertain significance rs779325064 12:110231363-110231363 12:109793558-109793558
27 TRPV4 NM_021625.4(TRPV4): c.159T> A (p.Asp53Glu) single nucleotide variant Uncertain significance rs765021989 12:110252443-110252443 12:109814638-109814638
28 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 12:110232235-110232235 12:109794430-109794430
29 TRPV4 NM_021625.4(TRPV4): c.1139C> T (p.Thr380Met) single nucleotide variant Uncertain significance rs764949536 12:110236432-110236432 12:109798627-109798627
30 TRPV4 NM_021625.4(TRPV4): c.956C> T (p.Ser319Leu) single nucleotide variant Uncertain significance rs377518118 12:110236615-110236615 12:109798810-109798810
31 TRPV4 NM_021625.4(TRPV4): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs139300843 12:110246181-110246181 12:109808376-109808376
32 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 12:110240939-110240939 12:109803134-109803134
33 TRPV4 NM_021625.4(TRPV4): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs758741868 12:110252577-110252577 12:109814772-109814772
34 TRPV4 NM_021625.4(TRPV4): c.1658+5G> A single nucleotide variant Uncertain significance rs756714651 12:110231327-110231327 12:109793522-109793522
35 TRPV4 NM_021625.4(TRPV4): c.847T> A (p.Tyr283Asn) single nucleotide variant Uncertain significance rs200210023 12:110238429-110238429 12:109800624-109800624
36 TRPV4 NM_021625.4(TRPV4): c.649G> A (p.Ala217Thr) single nucleotide variant Uncertain significance rs187864727 12:110240859-110240859 12:109803054-109803054
37 TRPV4 NM_021625.4(TRPV4): c.2584del (p.Arg862fs) deletion Uncertain significance rs746597270 12:110221458-110221458 12:109783653-109783653
38 TRPV4 NM_021625.4(TRPV4): c.2440G> T (p.Val814Leu) single nucleotide variant Uncertain significance rs202075458 12:110222139-110222139 12:109784334-109784334
39 TRPV4 NM_021625.4(TRPV4): c.1957A> G (p.Thr653Ala) single nucleotide variant Uncertain significance rs769927678 12:110226456-110226456 12:109788651-109788651
40 TRPV4 NM_021625.4(TRPV4): c.1493C> T (p.Pro498Leu) single nucleotide variant Uncertain significance rs1051494811 12:110231826-110231826 12:109794021-109794021
41 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 12:110226437-110226437 12:109788632-109788632
42 TRPV4 NM_021625.4(TRPV4): c.656G> A (p.Arg219His) single nucleotide variant Uncertain significance rs767331924 12:110240852-110240852 12:109803047-109803047
43 TRPV4 NM_021625.4(TRPV4): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs1318320106 12:110240862-110240862 12:109803057-109803057
44 TRPV4 NM_021625.4(TRPV4): c.26G> A (p.Arg9His) single nucleotide variant Uncertain significance rs776163103 12:110252576-110252576 12:109814771-109814771
45 TRPV4 NM_021625.4(TRPV4): c.1957A> C (p.Thr653Pro) single nucleotide variant Uncertain significance rs769927678 12:110226456-110226456 12:109788651-109788651
46 TRPV4 NM_021625.4(TRPV4): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs781229110 12:110236565-110236565 12:109798760-109798760
47 TRPV4 NM_021625.4(TRPV4): c.711A> G (p.Arg237=) single nucleotide variant Uncertain significance rs927188562 12:110240797-110240797 12:109802992-109802992
48 TRPV4 NM_021625.4(TRPV4): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs1555208627 12:110240807-110240807 12:109803002-109803002
49 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 12:110222154-110222154 12:109784349-109784349
50 TRPV4 NM_021625.4(TRPV4): c.655C> T (p.Arg219Cys) single nucleotide variant Uncertain significance rs754023659 12:110240853-110240853 12:109803048-109803048

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

74
# 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

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 11.53 MFN2 MFN1 KIF1B
2 11.27 RAB7B RAB7A HRAS
3 10.83 RAB7B RAB7A MFN2 MFN1 HRAS

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 mitochondrial outer membrane GO:0005741 9.54 MFN2 MFN1 GDAP1
2 cytoplasmic vesicle GO:0031410 9.35 TRPV4 SPG11 RAB7B RAB7A KIF1B
3 vacuolar membrane GO:0005774 9.32 RAB7B RAB7A
4 integral component of mitochondrial outer membrane GO:0031307 9.16 MFN1 GDAP1
5 myelin sheath GO:0043209 8.96 MPZ
6 intrinsic component of mitochondrial outer membrane GO:0031306 8.62 MFN2 MFN1

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 anterograde axonal transport GO:0008089 9.32 NEFL KIF1B
2 protein targeting to mitochondrion GO:0006626 9.26 MFN2 GDAP1
3 mitochondrion localization GO:0051646 9.16 MFN2 MFN1
4 phagosome-lysosome fusion GO:0090385 8.96 RAB7B RAB7A
5 mitochondrial fusion GO:0008053 8.8 MFN2 MFN1 GDAP1

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 GTP binding GO:0005525 9.35 RAB7B RAB7A MFN2 MFN1 HRAS
2 protein C-terminus binding GO:0008022 9.33 NEFL HRAS ATXN2
3 GTPase activity GO:0003924 9.02 RAB7B RAB7A MFN2 MFN1 HRAS

Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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