HMSN2C
MCID: HRD094
MIFTS: 42

Hereditary Motor and Sensory Neuropathy, Type Iic (HMSN2C)

Categories: Eye diseases, 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 58 13 74
Cmt2c 58 12 60 76 56
Charcot-Marie-Tooth Disease Axonal Type 2c 12 76 15
Hmsn2c 58 12 76
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 12 60
Hereditary Motor and Sensory Neuropathy Type Iic 12 76
Charcot-Marie-Tooth Neuropathy Type 2c 12 76
Hmsn Iic 58 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c; Cmt2c 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c 58
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 76
Charcot-Marie-Tooth Neuropathy, Type 2c 58
Charcot-Marie-Tooth Disease, Type 2c 41
Charcot-Marie-Tooth Disease 2c 76

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
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:

33
hereditary motor and sensory neuropathy, type iic:
Onset and clinical course incomplete penetrance onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

UniProtKB/Swiss-Prot : 76 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 tooth disease and charcot-marie-tooth disease, 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 Autophagy - animal and Mitophagy - animal. Affiliated tissues include eye, 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 : 58 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 Neuropathy, Hereditary Motor and Sensory, Type Via family:

Hereditary Motor and Sensory Neuropathy V Hereditary Motor and Sensory Neuropathy, Type Iic
Neuropathy, Hereditary Motor and Sensory, Type Vib 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 39)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.8 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
2 charcot-marie-tooth disease 28.9 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
3 charcot-marie-tooth disease, axonal, type 2i 10.3 KIF1B MPZ
4 charcot-marie-tooth disease, axonal, type 2j 10.3 KIF1B MPZ
5 charcot-marie-tooth disease, axonal, type 2n 10.3 KIF1B TRPV4
6 amyotrophic neuralgia 10.2 GJB1 KIF1B
7 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJB1 MPZ
8 charcot-marie-tooth disease, axonal, type 2f 10.2 GJB1 KIF1B MPZ
9 charcot-marie-tooth disease, axonal, type 2d 10.2 GJB1 KIF1B MPZ
10 charcot-marie-tooth disease, axonal, type 2l 10.2 KIF1B MPZ
11 charcot-marie-tooth neuropathy type 2a 10.2 KIF1B MFN2
12 charcot-marie-tooth disease, demyelinating, type 1b 10.2 GJB1 KIF1B MPZ
13 charcot-marie-tooth disease type 2a 10.2 KIF1B MFN2
14 charcot-marie-tooth disease, axonal, type 2a1 10.1 KIF1B MFN2
15 spastic paraplegia 57, autosomal recessive 10.1 SPG11 TFG
16 charcot-marie-tooth disease, demyelinating, type 1f 10.1 GJB1 MPZ NEFL
17 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.1 GJB1 MPZ
18 scapuloperoneal spinal muscular atrophy 10.1
19 neuronopathy, distal hereditary motor, type viii 10.1
20 spinal muscular atrophy 10.1
21 charcot-marie-tooth disease type 2c 10.1
22 proximal spinal muscular atrophy 10.1
23 muscular atrophy 10.1
24 hypertrophic neuropathy of dejerine-sottas 10.0 GDAP1 GJB1 KIF1B MPZ
25 charcot-marie-tooth disease, demyelinating, type 1c 10.0 GJB1 KIF1B MPZ NEFL
26 charcot-marie-tooth disease, axonal, type 2b 10.0 GJB1 KIF1B MPZ RAB7A
27 autoimmune peripheral neuropathy 10.0 GJB1 MPZ
28 axonal neuropathy 9.9 GDAP1 MFN2 SPG11 TRPV4
29 charcot-marie-tooth disease, demyelinating, type 1a 9.8 GDAP1 GJB1 KIF1B MFN2 MPZ
30 neuropathy, hereditary, with liability to pressure palsies 9.8 GDAP1 GJB1 KIF1B MFN2 MPZ
31 charcot-marie-tooth disease, demyelinating, type 1d 9.8 GJB1 KIF1B MPZ NDRG1 TFG
32 charcot-marie-tooth disease and deafness 9.7 GDAP1 GJB1 KIF1B MFN2 MPZ
33 neuropathy 9.7 GDAP1 GJB1 MFN2 MPZ TFG
34 charcot-marie-tooth disease, axonal, type 2k 9.7 GDAP1 KIF1B MFN2 RAB7A TRPV4
35 charcot-marie-tooth disease, type 4d 9.6 GDAP1 GJB1 MFN2 NDRG1 TRPV4
36 sensory peripheral neuropathy 9.6 GDAP1 GJB1 MFN2 MPZ NDRG1
37 peripheral nervous system disease 9.6 GDAP1 GJB1 KIF1B MFN2 MPZ NEFL
38 motor peripheral neuropathy 9.5 GJB1 KIF1B MFN2 MPZ NDRG1 TFG
39 charcot-marie-tooth disease, axonal, type 2e 9.2 GDAP1 GJB1 KIF1B MFN2 MPZ NEFL

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:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 short stature 33 occasional (7.5%) HP:0004322
2 scoliosis 33 HP:0002650
3 sensorineural hearing impairment 33 HP:0000407
4 sensory neuropathy 33 HP:0000763
5 hand muscle atrophy 33 HP:0009130
6 pes cavus 33 HP:0001761
7 respiratory failure 33 HP:0002878
8 areflexia 33 HP:0001284
9 down-sloping shoulders 33 HP:0200021
10 obstructive sleep apnea 33 HP:0002870
11 hyporeflexia 33 HP:0001265
12 foot dorsiflexor weakness 33 HP:0009027
13 urinary urgency 33 HP:0000012
14 urinary incontinence 33 HP:0000020
15 hammertoe 33 HP:0001765
16 distal muscle weakness 33 HP:0002460
17 stridor 33 HP:0010307
18 vocal cord paresis 33 HP:0001604
19 oculomotor nerve palsy 33 HP:0012246
20 diaphragmatic weakness 33 HP:0009113
21 distal sensory impairment 33 HP:0002936
22 cranial nerve vi palsy 33 HP:0006897
23 abducens palsy 33 HP:0011349
24 shoulder girdle muscle atrophy 33 HP:0003724
25 intercostal muscle weakness 33 HP:0004878
26 decreased distal sensory nerve action potential 33 HP:0007230

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
vocal cord paresis
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
more
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

Skeletal Feet:
pes cavus
hammertoes

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2
2 homeostasis/metabolism MP:0005376 9.65 ATXN2 GDAP1 GJB1 HRAS KIF1B MFN2
3 nervous system MP:0003631 9.36 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

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

42
Eye

Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

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

# Title Authors Year
1
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26048687 )
2015
2
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26162716 )
2015
3
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. ( 22675077 )
2012
4
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. ( 21365284 )
2011
5
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. ( 20037586 )
2010
6
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
7
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. ( 21115951 )
2010
8
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. ( 12062259 )
2002

Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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

76
# 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 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh38 Chromosome 12, 109792396: 109792396
3 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
4 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh38 Chromosome 12, 109792695: 109792695
5 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
6 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
7 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
8 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
9 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
10 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
11 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
12 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
13 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
14 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
15 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
16 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
17 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
18 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh38 Chromosome 12, 109793560: 109793560
19 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
20 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
21 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
22 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
23 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
24 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
25 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
26 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
27 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
28 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
29 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
30 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
31 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
32 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
33 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
34 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
35 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
36 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
37 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
38 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
39 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
40 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
41 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
42 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
43 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
44 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
45 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
46 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
47 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
48 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
49 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
50 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786

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 11.24 HRAS RAB7A RAB7B
2 10.74 HRAS MFN2 RAB7A RAB7B

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 vacuolar membrane GO:0005774 9.16 RAB7A RAB7B
2 cytoplasmic vesicle GO:0031410 9.02 KIF1B RAB7A RAB7B SPG11 TRPV4
3 myelin sheath GO:0043209 8.65 MPZ

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 9.26 KIF1B NEFL
2 protein targeting to mitochondrion GO:0006626 9.16 GDAP1 MFN2
3 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
4 phagosome-lysosome fusion GO:0090385 8.62 RAB7A RAB7B

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 protein C-terminus binding GO:0008022 9.33 ATXN2 HRAS NEFL
2 GTP binding GO:0005525 9.26 HRAS MFN2 RAB7A RAB7B
3 GTPase activity GO:0003924 8.92 HRAS MFN2 RAB7A RAB7B

Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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