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

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

Name: Hereditary Motor and Sensory Neuropathy, Type Iic 52 24 12 68
Cmt2c 11 24 54 70 50
Charcot-Marie-Tooth Disease Axonal Type 2c 11 70 13
Charcot-Marie-Tooth Neuropathy Type 2c 11 24 70
Hmsn2c 11 24 70
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c 11 54
 
Hereditary Motor and Sensory Neuropathy Type Iic 11 70
Hmsn Iic 24 70
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c 11
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c 70
Charcot-Marie-Tooth Disease 2c 70
Cmt 2c 24

Characteristics:

Orphanet epidemiological data:

54
cmt2c:
Inheritance: Autosomal dominant

HPO:

64
hereditary motor and sensory neuropathy, type iic:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset, incomplete penetrance

Classifications:



External Ids:

OMIM52 606071
Disease Ontology11 DOID:0110182
ICD1030 G60.0
Orphanet54 ORPHA99937
ICD10 via Orphanet31 G60.0
MeSH39 D002607

Summaries for Hereditary Motor and Sensory Neuropathy, Type Iic

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UniProtKB/Swiss-Prot:70 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, urinary urgency and urinary incontinence. 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 are Thyroid cancer and Mitophagy - animal. Related mouse phenotypes are homeostasis/metabolism and behavior/neurological.

Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

OMIM:52 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2a131.3KIF1B, MFN2
2charcot-marie-tooth disease type 2c11.4
3charcot-marie-tooth disease, type 2i10.2KIF1B, MPZ
4charcot-marie-tooth disease, dominant intermediate d10.2KIF1B, MPZ
5aneurysmal bone cysts10.2KIF1B, TRPV4
6chrna1-related congenital myasthenic syndrome10.2GJB1, MPZ
7surfactant metabolism dysfunction, pulmonary, 210.2GJB1, MPZ
8systemic lupus erythematosus 1410.2HRAS, MPZ
9deafness, autosomal dominant 4910.1HRAS, MPZ
10williams-beuren syndrome10.1GJB1, KIF1B, MPZ
11pneumonic plague10.1GJB1, KIF1B, MPZ
12aortic aneurysm, familial thoracic 410.1KIF1B, MPZ
13methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.1KIF1B, MPZ
14acute sanguinous otitis media10.1GJB1, KIF1B, MPZ
15charcot-marie-tooth disease, type 1e10.1GJB1, KIF1B, MPZ
16spermatogenic failure, x-linked, 210.1GDAP1, GJB1, MPZ
17deafness, autosomal recessive 7610.1GDAP1, GJB1, MPZ
18chondrodysplasia punctata 2, x-linked10.1KIF1B, TRPV4
19joubert syndrome 810.1SPG11, TFG
20charles bonnet syndrome10.0KIF1B, MFN2
21potocki-lupski syndrome10.0GDAP1, GJB1, KIF1B, MPZ
22neuropathy, congenital hypomyelinating10.0GDAP1, GJB1, KIF1B, MPZ
23classic galactosemia and clinical variant galactosemia10.0GJB1, MPZ
24cold-induced sweating syndrome including crisponi syndrome10.0KIF1B, MFN2
25hypertrophic osteoarthropathy, primary, autosomal recessive 210.0GJB1, KIF1B, MPZ, RAB7A
26pituitary adenoma, prolactin-secreting9.9MFN2, MPZ, TRPV4
27chkb-related muscle diseases9.8GDAP1, GJB1, MFN2, MPZ
28uterine ligament serous adenocarcinoma9.8GDAP1, GJB1, MFN2, MPZ
29scapuloperoneal spinal muscular atrophy9.8
30spinal muscular atrophy9.8
31muscular atrophy9.8
32nephrolithiasis, uric acid9.8GJB1, KIF1B, MPZ, NDRG1, TFG
33neuropathy, inflammatory demyelinating9.7GDAP1, GJB1, KIF1B, MFN2, MPZ
34korsakoff's amnesic syndrome9.7GJB1, MFN2, MPZ, NDRG1
35carotid body cancer9.7GDAP1, GJB1, MFN2, MPZ, TRPV4
36mitochondrial complex v deficiency, nuclear type 29.7GDAP1, KIF1B, MFN2, RAB7A, TRPV4
37dejerine-sottas disease9.6GDAP1, GJB1, KIF1B, MFN2, MPZ, TRPV4
38thrombophilia due to antithrombin iii deficiency9.6GDAP1, GJB1, KIF1B, MFN2, MPZ, TRPV4
395-oxoprolinase deficiency9.6GDAP1, GJB1, MFN2, NDRG1, TRPV4
40senile angioma9.6GDAP1, GJB1, MFN2, MPZ, NDRG1
41conotruncal heart malformations9.5GDAP1, GJB1, KIF1B, MFN2, MPZ, TFG
42infantile epileptic encephalopathy9.3GDAP1, GJB1, KIF1B, MFN2, MPZ, NDRG1
43charcot-marie-tooth disease, type 2j9.3GDAP1, GJB1, KIF1B, MFN2, MPZ, NDRG1
44wernicke-korsakoff syndrome9.2GDAP1, GJB1, KIF1B, MFN2, MPZ, NDRG1
45chromophobe renal cell carcinoma8.9GDAP1, GJB1, KIF1B, MFN2, MPZ, NDRG1
46parastremmatic dwarfism8.5ATXN2, 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

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Symptoms by clinical synopsis from OMIM:

606071

Clinical features from OMIM:

606071

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

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 urinary urgency64 HP:0000012
2 urinary incontinence64 HP:0000020
3 sensorineural hearing impairment64 HP:0000407
4 sensory neuropathy64 HP:0000763
5 hyporeflexia64 HP:0001265
6 areflexia64 HP:0001284
7 vocal cord paresis64 HP:0001604
8 pes cavus64 HP:0001761
9 hammertoe64 HP:0001765
10 distal muscle weakness64 HP:0002460
11 scoliosis64 HP:0002650
12 obstructive sleep apnea64 HP:0002870
13 respiratory failure64 HP:0002878
14 distal sensory impairment64 HP:0002936
15 shoulder girdle muscle atrophy64 HP:0003724
16 short stature64 HP:0004322
17 intercostal muscle weakness64 HP:0004878
18 decreased distal sensory nerve action potential64 HP:0007230
19 foot dorsiflexor weakness64 HP:0009027
20 diaphragmatic weakness64 HP:0009113
21 hand muscle atrophy64 HP:0009130
22 stridor64 HP:0010307
23 abducens palsy64 HP:0011349
24 oculomotor nerve palsy64 HP:0012246
25 down-sloping shoulders64 HP:0200021

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


stridor

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2ATXN2, GDAP1, GJB1, HRAS, KIF1B, MFN2
2MP:00053866.9ATXN2, GDAP1, GJB1, HRAS, KIF1B, MFN2
3MP:00036316.1ATXN2, GDAP1, GJB1, HRAS, KIF1B, MFN2

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

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Interventional clinical trials:

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

Genetic Tests for Hereditary Motor and Sensory Neuropathy, Type Iic

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2c24 TRPV4

Anatomical Context for Hereditary Motor and Sensory Neuropathy, Type Iic

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Publications for Hereditary Motor and Sensory Neuropathy, Type Iic

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Variations for Hereditary Motor and Sensory Neuropathy, Type Iic

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

70
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg269CysVAR_063528rs267607146
2TRPV4p.Arg269HisVAR_063529rs267607144
3TRPV4p.Arg316CysVAR_063530rs267607145
4TRPV4p.Arg315TrpVAR_063541rs267607143
5TRPV4p.Arg232CysVAR_067990rs387906904
6TRPV4p.Arg316HisVAR_067991rs387906905
7TRPV4p.Ser542TyrVAR_067993rs387906902

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV4NM_ 021625.4(TRPV4): c.1625C> A (p.Ser542Tyr)SNVPathogenicrs387906902GRCh37Chr 12, 110231365: 110231365
2TRPV4NM_ 021625.4(TRPV4): c.694C> T (p.Arg232Cys)SNVPathogenicrs387906904GRCh37Chr 12, 110240814: 110240814
3TRPV4NM_ 021625.4(TRPV4): c.947G> A (p.Arg316His)SNVPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
4TRPV4NM_ 021625.4(TRPV4): c.557G> A (p.Arg186Gln)SNVPathogenic/ Likely pathogenicrs397514494GRCh37Chr 12, 110246103: 110246103
5TRPV4NM_ 021625.4(TRPV4): c.943C> T (p.Arg315Trp)SNVPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
6TRPV4NM_ 021625.4(TRPV4): c.806G> A (p.Arg269His)SNVPathogenicrs267607144GRCh37Chr 12, 110238470: 110238470
7TRPV4NM_ 021625.4(TRPV4): c.946C> T (p.Arg316Cys)SNVPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
8TRPV4NM_ 021625.4(TRPV4): c.805C> T (p.Arg269Cys)SNVPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

Expression for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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

Pathways for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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

idSuper pathwaysScoreTop Affiliating Genes
19.5HRAS, TFG
28.7HRAS, MFN2, RAB7A

GO Terms for genes affiliated with Hereditary Motor and Sensory Neuropathy, Type Iic

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.1KIF1B, RAB7A, SPG11, TRPV4

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:00080539.7GDAP1, MFN2
2protein targeting to mitochondrionGO:00066269.3GDAP1, MFN2

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

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:00080179.3KIF1B, NDRG1, TRPV4

Sources for Hereditary Motor and Sensory Neuropathy, Type Iic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet