HMSN2C
MCID: HRD094
MIFTS: 49

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 56 13 71
Charcot-Marie-Tooth Disease Axonal Type 2c 12 73 29 6 15
Cmt2c 56 12 58 73 54
Hmsn2c 56 12 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 12 58
Hereditary Motor and Sensory Neuropathy Type Iic 12 73
Charcot-Marie-Tooth Neuropathy Type 2c 12 73
Hmsn Iic 56 73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c; Cmt2c 56
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c 56
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 73
Charcot-Marie-Tooth Disease, Axonal, Type 2c 52
Hereditary Motor and Sensory Neuropathy 2 C 52
Charcot-Marie-Tooth Neuropathy, Type 2c 56
Charcot-Marie-Tooth Disease, Type 2c 39
Charcot-Marie-Tooth Disease Type 2c 52
Charcot Marie Tooth Disease Type 2c 52
Charcot-Marie-Tooth Disease 2c 73
Hmsn 2 C 52
Cmt 2c 52

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110182
OMIM 56 606071
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1853710
Orphanet 58 ORPHA99937
UMLS 71 C1853710

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

UniProtKB/Swiss-Prot : 73 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 charcot-marie-tooth disease axonal type 2c, is related to spondylometaphyseal dysplasia, kozlowski type and charcot-marie-tooth disease type 2a, 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 Vesicle-mediated transport and Cytoskeletal Signaling. 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 : 56 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 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 top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, kozlowski type 31.1 TRPV4 PACSIN3
2 charcot-marie-tooth disease type 2a 31.1 MFN2 KIF1B
3 scapuloperoneal spinal muscular atrophy 30.7 TRPV4 PACSIN3 GARS1
4 charcot-marie-tooth hereditary neuropathy 30.7 TRPV4 GARS1
5 axonal neuropathy 29.6 TRPV4 NEFL MFN2 GDAP1 GARS1
6 muscular atrophy 29.5 TRPV4 SH3TC2 HSPB8 GARS1
7 spinal muscular atrophy 28.8 TRPV4 SH3TC2 NEFL KIF1B HSPB8 GARS1
8 sensory peripheral neuropathy 28.5 TRPV4 SH3TC2 MPZ MFN2 KIF1B GJB1
9 neuropathy 26.5 TRPV4 SH3TC2 RAB7A NEFL MPZ MFN2
10 tooth disease 26.2 TRPV4 SH3TC2 RAB7A NEFL MPZ MFN2
11 charcot-marie-tooth disease 25.0 TRPV4 SPON1 SH3TC2 RAB7B RAB7A NEFL
12 spondyloepimetaphyseal dysplasia, strudwick type 10.4
13 spondyloepiphyseal dysplasia, maroteaux type 10.4 TRPV4 PACSIN3
14 argyll robertson pupil 10.4 MPZ GDAP1
15 pupil disease 10.3 MPZ GDAP1
16 abnormal pupillary function 10.3 MPZ GDAP1
17 parastremmatic dwarfism 10.3 TRPV4 PACSIN3
18 mfn2 hereditary motor and sensory neuropathy 10.3 MFN2 KIF1B
19 distal hereditary motor neuropathies 10.3 TRPV4 GARS1
20 metatropic dysplasia 10.3 TRPV4 PACSIN3
21 neuronopathy, distal hereditary motor, type iib 10.3 HSPB8 GARS1
22 autoimmune peripheral neuropathy 10.3 MPZ GJB1
23 charcot-marie-tooth disease x-linked recessive 4 10.3 MPZ GJB1
24 charcot-marie-tooth disease, axonal, type 2u 10.2 GJB1 GARS1
25 charcot-marie-tooth disease, axonal, type 2k 10.2 HSPB8 GDAP1
26 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
27 brachyolmia 10.2 TRPV4 PACSIN3
28 charcot-marie-tooth disease, axonal, type 2n 10.2 KIF1B GDAP1 GARS1
29 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 MPZ GJB1
30 spinocerebellar ataxia 2 10.1
31 ataxia and polyneuropathy, adult-onset 10.1
32 neuronopathy, distal hereditary motor, type viii 10.1
33 autosomal dominant cerebellar ataxia 10.1
34 trpv4-associated disorders 10.1
35 spinal muscular atrophy, x-linked 2 10.1
36 sleep apnea 10.1
37 skeletal dysplasias 10.1
38 distal hereditary motor neuronopathy type 2 10.1 MPZ HSPB8 GARS1
39 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 HSPB8 GDAP1
40 charcot-marie-tooth disease, x-linked recessive, 2 10.1 MPZ MFN2 GJB1
41 hereditary neuropathies 10.0 MPZ MFN2 GJB1
42 leukodystrophy, hypomyelinating, 12 10.0 RAB7B RAB7A
43 waardenburg syndrome, type 4a 9.9 MPZ GJB1
44 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 TRPV4 MFN2 HSPB8 GARS1
45 optic nerve disease 9.9 NEFL MFN2 GDAP1
46 neuropathy, hereditary motor and sensory, russe type 9.9 SH3TC2 GDAP1
47 charcot-marie-tooth disease, axonal, type 2w 9.9 MPZ MFN2 GJB1 GDAP1
48 neuronopathy, distal hereditary motor, type va 9.9 MFN2 HSPB8 GDAP1 GARS1
49 3-methylglutaconic aciduria, type iii 9.8 MFN2 KIF1B GJB1 GDAP1
50 mononeuropathy 9.8 SH3TC2 MPZ

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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 scoliosis 31 HP:0002650
3 sensorineural hearing impairment 31 HP:0000407
4 sensory neuropathy 31 HP:0000763
5 areflexia 31 HP:0001284
6 down-sloping shoulders 31 HP:0200021
7 pes cavus 31 HP:0001761
8 hyporeflexia 31 HP:0001265
9 respiratory failure 31 HP:0002878
10 hammertoe 31 HP:0001765
11 stridor 31 HP:0010307
12 vocal cord paresis 31 HP:0001604
13 obstructive sleep apnea 31 HP:0002870
14 distal muscle weakness 31 HP:0002460
15 diaphragmatic weakness 31 HP:0009113
16 distal sensory impairment 31 HP:0002936
17 oculomotor nerve palsy 31 HP:0012246
18 urinary incontinence 31 HP:0000020
19 abducens palsy 31 HP:0011349
20 urinary urgency 31 HP:0000012
21 foot dorsiflexor weakness 31 HP:0009027
22 shoulder girdle muscle atrophy 31 HP:0003724
23 cranial nerve vi palsy 31 HP:0006897
24 intercostal muscle weakness 31 HP:0004878
25 hand muscle atrophy 31 HP:0009130
26 decreased distal sensory nerve action potential 31 HP:0007230

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
hammertoes

Respiratory Larynx:
vocal cord paresis

Genitourinary Bladder:
urinary incontinence
urinary urgency

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

Head And Neck Eyes:
oculomotor nerve palsy
abducens nerve palsy

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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 GARS1 GDAP1 GJB1 HSPB8 KIF1B MFN2
2 homeostasis/metabolism MP:0005376 9.85 DNM2 GDAP1 GJB1 HSPB8 KIF1B MFN2
3 muscle MP:0005369 9.5 DNM2 GARS1 HSPB8 KIF1B MFN2 SH3TC2
4 nervous system MP:0003631 9.36 DNM2 GARS1 GDAP1 GJB1 HSPB8 KIF1B

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:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Axonal Type 2c 29 TRPV4

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

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

40
Skin

Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

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

(show all 38)
# Title Authors PMID Year
1
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 6 56 61 54
20037587 2010
2
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. 61 6 56
22675077 2012
3
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 61 6 56
21288981 2011
4
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 56 6 61
21115951 2010
5
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 61 56 6
20037586 2010
6
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. 61 56 6
15668982 2005
7
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. 6 56
22065612 2011
8
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 6 56
20037588 2010
9
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. 56 6
10463355 1999
10
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. 56 6
8179305 1994
11
TRPV4-Associated Disorders 6 61
24830047 2014
12
The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. 56 61
12682323 2003
13
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 6
24789864 2014
14
Muscle MRI in TRPV4-related congenital distal SMA. 6
22291064 2012
15
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. 6
21336783 2011
16
Channelopathies converge on TRPV4. 6
20104247 2010
17
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. 56
17948126 2007
18
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. 56
11294660 2001
19
Charcot-Marie-Tooth Neuropathy Type 2 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301462 1998
20
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
21
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 6
1520078 1992
22
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. 6
4056805 1985
23
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2020
24
Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2. 61
31231042 2019
25
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 61
30476010 2018
26
[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]. 61
26602803 2015
27
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. 61
27066566 2015
28
Charcot-Marie-Tooth disease: New insights from skin biopsy. 61
26362287 2015
29
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
30
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. 61
21327736 2011
31
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. 61
21365284 2011
32
Respiratory muscle weakness in peripheral neuropathies. 61
21199102 2010
33
TRPV4-pathy, a novel channelopathy affecting diverse systems. 61
20505684 2010
34
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 61
12481988 2002
35
Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. 61
11231025 2001
36
Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. 61
11214130 2001
37
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 61
9409358 1997
38
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. 61
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 286) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)SNV Pathogenic 858193 12:110236628-110236628 12:109798823-109798823
2 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)SNV Pathogenic 4994 rs77975504 12:110230500-110230500 12:109792695-109792695
3 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu)SNV Pathogenic 4998 rs121912637 12:110222183-110222183 12:109784378-109784378
4 TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr)SNV Pathogenic 30469 rs387906902 12:110231365-110231365 12:109793560-109793560
5 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
6 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820
7 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666
8 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His)SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819
9 TRPV4 NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)SNV Pathogenic/Likely pathogenic 39419 rs397514494 12:110246103-110246103 12:109808298-109808298
10 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)SNV Pathogenic/Likely pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823
11 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His)SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
12 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)SNV Pathogenic/Likely pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396
13 TRPV4 NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)SNV Likely pathogenic 18434 rs267607148 12:110238444-110238444 12:109800639-109800639
14 TRPV4 NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu)SNV Likely pathogenic 536862 rs1289139464 12:110240798-110240798 12:109802993-109802993
15 NEFH NM_021076.4(NEFH):c.883+1G>CSNV Likely pathogenic 804316 22:29877135-29877135 22:29481146-29481146
16 TRPV4 NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)SNV Conflicting interpretations of pathogenicity 576802 rs751139506 12:110236636-110236636 12:109798831-109798831
17 TRPV4 NM_021625.4(TRPV4):c.1729G>A (p.Val577Met)SNV Conflicting interpretations of pathogenicity 582636 rs140535889 12:110230552-110230552 12:109792747-109792747
18 TRPV4 NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)SNV Conflicting interpretations of pathogenicity 578089 rs142749412 12:110231735-110231735 12:109793930-109793930
19 TRPV4 NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)SNV Conflicting interpretations of pathogenicity 583175 rs758280554 12:110232160-110232160 12:109794355-109794355
20 TRPV4 NM_021625.4(TRPV4):c.651G>A (p.Ala217=)SNV Conflicting interpretations of pathogenicity 517843 rs371280831 12:110240857-110240857 12:109803052-109803052
21 TRPV4 NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe)SNV Conflicting interpretations of pathogenicity 521669 rs763889344 12:110230581-110230581 12:109792776-109792776
22 TRPV4 NM_021625.4(TRPV4):c.2304G>C (p.Ser768=)SNV Conflicting interpretations of pathogenicity 499138 rs138986228 12:110224547-110224547 12:109786742-109786742
23 TRPV4 NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys)SNV Conflicting interpretations of pathogenicity 536854 rs145102919 12:110224531-110224531 12:109786726-109786726
24 TRPV4 NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu)SNV Conflicting interpretations of pathogenicity 418525 rs35058636 12:110226500-110226500 12:109788695-109788695
25 TRPV4 NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln)SNV Conflicting interpretations of pathogenicity 422303 rs1064795696 12:110236627-110236627 12:109798822-109798822
26 TRPV4 NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala)SNV Conflicting interpretations of pathogenicity 448711 rs146304351 12:110246137-110246137 12:109808332-109808332
27 TRPV4 NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter)SNV Conflicting interpretations of pathogenicity 469047 rs142902080 12:110236613-110236613 12:109798808-109798808
28 TRPV4 NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr)SNV Conflicting interpretations of pathogenicity 216733 rs138396764 12:110221437-110221437 12:109783632-109783632
29 TRPV4 NM_021625.4(TRPV4):c.1656del (p.Tyr553fs)deletion Conflicting interpretations of pathogenicity 241385 rs541606391 12:110231334-110231334 12:109793529-109793529
30 TRPV4 NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp)SNV Conflicting interpretations of pathogenicity 241381 rs34227547 12:110232247-110232247 12:109794442-109794442
31 TRPV4 NM_021625.4(TRPV4):c.2439C>T (p.Thr813=)SNV Conflicting interpretations of pathogenicity 682229 12:110222140-110222140 12:109784335-109784335
32 TRPV4 NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)SNV Conflicting interpretations of pathogenicity 881173 12:110238534-110238534 12:109800729-109800729
33 TRPV4 NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys)SNV Conflicting interpretations of pathogenicity 246534 rs373049874 12:110232235-110232235 12:109794430-109794430
34 TRPV4 NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met)SNV Conflicting interpretations of pathogenicity 245915 rs764949536 12:110236432-110236432 12:109798627-109798627
35 TRPV4 NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg)SNV Conflicting interpretations of pathogenicity 246556 rs201241092 12:110246258-110246258 12:109808453-109808453
36 TRPV4 NM_021625.4(TRPV4):c.1491+10C>TSNV Conflicting interpretations of pathogenicity 282949 rs201815805 12:110232124-110232124 12:109794319-109794319
37 TRPV4 NM_021625.4(TRPV4):c.1211G>A (p.Arg404His)SNV Conflicting interpretations of pathogenicity 307132 rs377257364 12:110234451-110234451 12:109796646-109796646
38 TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu)SNV Conflicting interpretations of pathogenicity 307143 rs200199102 12:110252397-110252397 12:109814592-109814592
39 TRPV4 NM_021625.4(TRPV4):c.963C>A (p.Gly321=)SNV Conflicting interpretations of pathogenicity 307134 rs148534854 12:110236608-110236608 12:109798803-109798803
40 TRPV4 NM_021625.4(TRPV4):c.1825-15C>GSNV Conflicting interpretations of pathogenicity 307126 rs200602134 12:110230249-110230249 12:109792444-109792444
41 TRPV4 NM_021625.4(TRPV4):c.650C>T (p.Ala217Val)SNV Conflicting interpretations of pathogenicity 307138 rs548909101 12:110240858-110240858 12:109803053-109803053
42 TRPV4 NM_021625.4(TRPV4):c.898A>G (p.Ile300Val)SNV Conflicting interpretations of pathogenicity 385760 rs114612488 12:110236673-110236673 12:109798868-109798868
43 TRPV4 NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=)SNV Conflicting interpretations of pathogenicity 386671 rs750086412 12:110236533-110236533 12:109798728-109798728
44 TRPV4 NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr)SNV Conflicting interpretations of pathogenicity 391933 rs200838499 12:110230174-110230174 12:109792369-109792369
45 TRPV4 NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr)SNV Uncertain significance 307142 rs201642486 12:110246233-110246233 12:109808428-109808428
46 TRPV4 NM_021625.4(TRPV4):c.171T>C (p.Pro57=)SNV Uncertain significance 307144 rs886048941 12:110252431-110252431 12:109814626-109814626
47 TRPV4 NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly)SNV Uncertain significance 307123 rs375189134 12:110224615-110224615 12:109786810-109786810
48 TRPV4 NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn)SNV Uncertain significance 307139 rs769445973 12:110240886-110240886 12:109803081-109803081
49 TRPV4 NM_021625.4(TRPV4):c.-74G>ASNV Uncertain significance 307145 rs886048942 12:110271197-110271197 12:109833392-109833392
50 TRPV4 NM_021625.4(TRPV4):c.*405G>ASNV Uncertain significance 307114 rs886048937 12:110221021-110221021 12:109783216-109783216

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

73
# 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
Show member pathways
12.74 RAB7B RAB7A PACSIN3 KIF1B GJB1 DNM2
2 11.75 RAB7A NEFL KIF1B DNM2
3 11.54 RAB7B RAB7A DNM2
4 10.63 RAB7B RAB7A MFN2

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 axon GO:0030424 9.46 NEFL KIF1B GARS1 DNM2
2 growth cone GO:0030426 9.43 TRPV4 NEFL DNM2
3 phagocytic vesicle membrane GO:0030670 9.13 RAB7B RAB7A DNM2
4 cytoplasmic vesicle GO:0031410 9.1 TRPV4 SH3TC2 RAB7B RAB7A KIF1B DNM2

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 mitochondrial fission GO:0000266 9.16 GDAP1 DNM2
4 mitochondrial fusion GO:0008053 8.96 MFN2 GDAP1
5 phagosome-lysosome fusion GO:0090385 8.62 RAB7B RAB7A

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 9.46 RAB7B RAB7A MFN2 DNM2
2 GTPase activity GO:0003924 9.26 RAB7B RAB7A MFN2 DNM2
3 nucleotide binding GO:0000166 9.17 TRPV4 RAB7B RAB7A MFN2 KIF1B GARS1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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