Aliases & Classifications for Talipes Equinovarus

MalaCards integrated aliases for Talipes Equinovarus:

Name: Talipes Equinovarus 53 29 6
Talipes 53 29 6
Congenital Talipes Equinovarus 53
Clubfoot 53
Ctev 53

Classifications:



External Ids:

ICD10 33 Q66.0

Summaries for Talipes Equinovarus

NIH Rare Diseases : 53 Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed.  body {background-color: #FFFFFF; font-family: "Times New Roman"; font-size: 12pt;} ]]>

MalaCards based summary : Talipes Equinovarus, also known as talipes, is related to tarp syndrome and clubfoot. An important gene associated with Talipes Equinovarus is PITX1 (Paired Like Homeodomain 1). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Decreased Aire reporter expression and craniofacial

Wikipedia : 76 Clubfoot is a birth defect where one or both feet are rotated inwards and downwards. The affected foot,... more...

Related Diseases for Talipes Equinovarus

Graphical network of the top 20 diseases related to Talipes Equinovarus:



Diseases related to Talipes Equinovarus

Symptoms & Phenotypes for Talipes Equinovarus

GenomeRNAi Phenotypes related to Talipes Equinovarus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.8 RYR1 DARS2 GLI3

MGI Mouse Phenotypes related to Talipes Equinovarus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 CC2D2A GLI3 IRF6 PITX1 RYR1 TTN
2 hearing/vestibular/ear MP:0005377 9.73 GLI3 IRF6 PITX1 TRPV4 CC2D2A COL9A1
3 digestive/alimentary MP:0005381 9.72 GLI3 IRF6 PITX1 RYR1 CC2D2A
4 limbs/digits/tail MP:0005371 9.63 CC2D2A COL9A1 GLI3 IRF6 PITX1 RYR1
5 skeleton MP:0005390 9.43 COL9A1 GLI3 IRF6 PITX1 RYR1 TTN
6 vision/eye MP:0005391 9.1 CC2D2A COL9A1 GLI3 KIAA1109 TRPV4 TTN

Drugs & Therapeutics for Talipes Equinovarus

Drugs for Talipes Equinovarus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
3 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
6 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
7 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
8 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
11 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
12 Anesthetics Phase 3
13 Hemagglutinins Phase 2
14
Menthol Approved Not Applicable 2216-51-5 16666
15 Neuroserpin
16 Analgesics Not Applicable
17 Calcium, Dietary Not Applicable
18 Astragalus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effects of Customized Insoles on Children With Flat Foot Unknown status NCT02414087 Phase 4
2 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
3 Assessment of Gait After Dysport Treatment Not yet recruiting NCT03501043 Phase 4 Dysport
4 Comparison Study of Biofoam Porous Metal Versus Allograft to Treat Adult Acquired Flatfoot Withdrawn NCT00949897 Phase 4
5 Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patients Completed NCT00825097 Phase 3 Botulinum toxin injection
6 Study of GSK1358820 In Patients With Post-Stroke Lower Limb Spasticity Completed NCT00460655 Phase 3 GSK1358820;Placebo
7 Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Leg(s) in Cerebral Palsy Completed NCT01893411 Phase 3 IncobotulinumtoxinA (16 Units per kg body weight);IncobotulinumtoxinA (12 Units per kg body weight);IncobotulinumtoxinA (4 Units per kg body weight)
8 Long-term Open-label Study of Botulinumtoxin Type A to Treat Spasticity of Leg(s) or Leg(s) and Arm in Cerebral Palsy Completed NCT01905683 Phase 3 IncobotulinumtoxinA (16-20 Units per kg body weight)
9 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
10 Efficacy of Botox in Patients With Idiopathic Clubfoot Unknown status NCT00152334 Not Applicable Botox
11 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088 Not Applicable
12 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
13 Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneus Unknown status NCT01767662 Not Applicable
14 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140 Not Applicable
15 Genetic Disease Gene Identification Unknown status NCT00916903
16 Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft Unknown status NCT01645267 Not Applicable
17 Calcaneal Neck Lengthening Osteotomy in Children With Artificial Bone Graft Unknown status NCT01618812
18 Clubfoot DNA Repository Completed NCT00607191
19 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
20 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
21 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
22 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
23 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306 Not Applicable
24 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
25 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185 Not Applicable
26 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651 Not Applicable
27 A Double-Blind, Randomized Control Trial Comparing Botulinum Toxin Type A (Botox) and Placebo in the Treatment of Idiopathic Clubfoot Completed NCT00152347 Not Applicable Botox
28 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Not Applicable Botulinic toxin (Botox)
29 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Not Applicable Intra muscular injection of Botulinum toxin
30 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
31 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
32 Post Marketing Surveillance Study of Dysport Completed NCT00210431
33 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
34 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
35 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
36 The Effects of 12-week Custom-made Orthotic Intervention on the Structure and Function of the Foot of Healthy Young Adults During Gait Termination Completed NCT02957812 Not Applicable
37 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
38 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
39 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
40 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
41 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
42 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
43 The Outcome Effect of Shoe Lift for Individuals With Low Back Pain and Pronated Foot Due to Anatomical Leg Length Discrepancy Completed NCT01187693 Not Applicable
44 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Recruiting NCT02755766
45 Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot Recruiting NCT02815215 Early Phase 1
46 Using Botox to Treat Patients With Idiopathic Clubfoot Recruiting NCT00474032 Not Applicable Botulinum Toxin (Type A) injection (10 U/Kg)
47 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
48 Dynamic Evaluation of Ankle Joint and Muscle Mechanics in Children With Spastic Equinus Deformity Due to Cerebral Palsy Recruiting NCT02814786 Not Applicable
49 MiracleFeet Foot Abduction Brace Sensor Trial Recruiting NCT03249805 Not Applicable
50 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264

Search NIH Clinical Center for Talipes Equinovarus

Genetic Tests for Talipes Equinovarus

Genetic tests related to Talipes Equinovarus:

# Genetic test Affiliating Genes
1 Talipes Equinovarus 29 PITX1
2 Talipes 29

Anatomical Context for Talipes Equinovarus

MalaCards organs/tissues related to Talipes Equinovarus:

41
Bone

Publications for Talipes Equinovarus

Articles related to Talipes Equinovarus:

(show top 50) (show all 248)
# Title Authors Year
1
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
2
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
3
Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients. ( 29642612 )
2018
4
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
5
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
6
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
7
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
8
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
9
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
10
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2017
11
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
12
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
13
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
14
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
15
Fibula extension and correction of foot and ankle deformity to rectify post-osteomyelitis talipes equinovarus in a young adult: a case report and literature review. ( 27383298 )
2016
16
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
17
A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30A years. ( 27386344 )
2016
18
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
19
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
20
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
21
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
22
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
23
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2015
24
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
25
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
26
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
27
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
28
Comparative results of percutaneous Achilles tenotomy to combined open Achilles tenotomy with posterior capsulotomy in the correction of equinus deformity in congenital talipes equinovarus. ( 25690920 )
2015
29
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
30
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
31
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
32
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
33
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
34
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
35
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
36
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
37
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2014
38
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013
39
Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area. ( 23482273 )
2013
40
3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot). ( 23382871 )
2013
41
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. ( 22892537 )
2013
42
Congenital idiopathic talipes equinovarus: an evaluation in infants treated by the Ponseti method. ( 24142617 )
2013
43
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. ( 23678225 )
2013
44
SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus. ( 23254326 )
2013
45
Assessment of talipes equinovarus treated by Ponseti technique: three-year preliminary report. ( 22387138 )
2012
46
Congenital talipes equinovarus: an epidemiological study in Sicily. ( 22489891 )
2012
47
Paralytic congenital talipes equinovarus of unknown origin: A new entity. Multicenter study of 42A cases. ( 22818425 )
2012
48
Value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus. ( 22733848 )
2012
49
Assessment of calf volume in Congenital Talipes Equinovarus by computer analysed digital photography. ( 22385530 )
2012
50
Correlation of foot bimalleolar angle with Pirani score to assess the severity of congenital talipes equinovarus deformity. ( 21912337 )
2012

Variations for Talipes Equinovarus

ClinVar genetic disease variations for Talipes Equinovarus:

6
(show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 DARS2 NM_018122.4(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs367543010 GRCh37 Chromosome 1, 173797450: 173797451
2 DARS2 NM_018122.4(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs367543010 GRCh38 Chromosome 1, 173828312: 173828313
3 DARS2 NM_018122.4(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh37 Chromosome 1, 173800770: 173800770
4 DARS2 NM_018122.4(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh38 Chromosome 1, 173831632: 173831632
5 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980
6 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh38 Chromosome 5, 135031290: 135031290
7 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
8 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh38 Chromosome 19, 38499961: 38499961
9 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
10 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
11 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
12 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh37 Chromosome 5, 134364615: 134364649
13 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
14 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
15 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
16 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
17 PKD1 NM_001009944.2(PKD1): c.7429C> T (p.Arg2477Cys) single nucleotide variant Uncertain significance rs376283361 GRCh38 Chromosome 16, 2106458: 2106458
18 PKD1 NM_001009944.2(PKD1): c.7429C> T (p.Arg2477Cys) single nucleotide variant Uncertain significance rs376283361 GRCh37 Chromosome 16, 2156459: 2156459
19 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
20 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
21 complex Uncertain significance
22 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
23 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
24 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
25 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042
26 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
27 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
28 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 15518380: 15518380
29 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 15516757: 15516757
30 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 75030037: 75030037
31 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 76789795: 76789795
32 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh38 Chromosome 16, 2090798: 2090798
33 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh37 Chromosome 16, 2140799: 2140799
34 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 70258156: 70258156
35 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 70292059: 70292059

Expression for Talipes Equinovarus

Search GEO for disease gene expression data for Talipes Equinovarus.

Pathways for Talipes Equinovarus

GO Terms for Talipes Equinovarus

Cellular components related to Talipes Equinovarus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.13 CC2D2A GLI3 TRPV4
2 I band GO:0031674 8.62 RYR1 TTN

Biological processes related to Talipes Equinovarus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skin development GO:0043588 8.62 IRF6 RYR1

Molecular functions related to Talipes Equinovarus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.8 RYR1 TRPV4 TTN

Sources for Talipes Equinovarus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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