Aliases & Classifications for Talipes Equinovarus

MalaCards integrated aliases for Talipes Equinovarus:

Name: Talipes Equinovarus 49 28
Talipes 49 28
Congenital Talipes Equinovarus 49
Clubfoot 49
Ctev 49

Classifications:



External Ids:

ICD10 32 Q66.0

Summaries for Talipes Equinovarus

NIH Rare Diseases : 49 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;} ]]> Last updated: 2/27/2014

MalaCards based summary : Talipes Equinovarus, also known as talipes, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 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 digestive/alimentary and craniofacial

Related Diseases for Talipes Equinovarus

Diseases related to Talipes Equinovarus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 32.3 PITX1 RYR1
2 clubfoot 32.1 HOXD13 PITX1
3 tarp syndrome 12.1
4 vertical talus, congenital 11.5
5 crane-heise syndrome 11.3
6 pseudodiastrophic dysplasia 11.1
7 ehlers-danlos syndrome, musculocontractural type, 1 11.1
8 popliteal pterygium syndrome 11.1
9 acromelic frontonasal dysostosis 11.1
10 cyprus facial neuromusculoskeletal syndrome 11.1
11 aging 10.3
12 myotonic dystrophy 10.3
13 myelomeningocele 10.2
14 neural tube defects 10.2
15 multiple pterygium syndrome, escobar variant 10.1 IRF6 RYR1
16 constricting bands, congenital 10.0
17 eunuchism 10.0
18 dystonia 10.0
19 hypogonadotropic hypogonadism 23 without anosmia 10.0
20 compartment syndrome 10.0
21 neuropathy 10.0
22 metatarsus adductus 10.0
23 blood group, i system 10.0
24 spasticity 10.0
25 early-onset generalized limb-onset dystonia 10.0
26 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.0
27 hemangioma 10.0
28 dystonia 1, torsion, autosomal dominant 10.0
29 scoliosis 10.0
30 dystonia 12 10.0
31 idiopathic scoliosis 10.0
32 kabuki syndrome 1 10.0
33 ritscher-schinzel syndrome 10.0
34 tarsal coalition 10.0
35 osteomyelitis 10.0
36 synpolydactyly 9.8 GLI3 HOXD13
37 tracheoesophageal fistula 9.8 GLI3 HOXD13
38 tibial hemimelia, bilateral 9.8 GLI3 PITX1
39 tibial hemimelia 9.8 GLI3 PITX1
40 bone development disease 9.7 GLI3 HOXD13
41 physical disorder 9.7 GLI3 IRF6
42 chromosome 2q35 duplication syndrome 9.7 GLI3 HOXD13

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



Diseases related to Talipes Equinovarus

Symptoms & Phenotypes for Talipes Equinovarus

MGI Mouse Phenotypes related to Talipes Equinovarus:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 GLI3 HOXD13 IRF6 PITX1 RYR1
2 craniofacial MP:0005382 9.62 GLI3 IRF6 PITX1 RYR1
3 hearing/vestibular/ear MP:0005377 9.46 COL9A1 GLI3 IRF6 PITX1
4 limbs/digits/tail MP:0005371 9.43 GLI3 HOXD13 IRF6 PITX1 RYR1 COL9A1
5 skeleton MP:0005390 9.1 GLI3 HOXD13 IRF6 PITX1 RYR1 COL9A1

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 51-84-3 187
2 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
3 Cholinergic Agents Phase 4,Phase 3,Phase 2
4 Neuromuscular Agents Phase 4,Phase 3,Phase 2
5 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
6 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
7 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
8 Botulinum Toxins Phase 4,Phase 3,Phase 2
9 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
10 incobotulinumtoxinA Phase 4,Phase 2
11 Anesthetics Phase 3
12 Pharmaceutical Solutions Phase 2
13 Hemagglutinins Phase 2
14
Menthol Approved 2216-51-5 16666
15 Neuroserpin
16 Analgesics
17 Calcium, Dietary
18 Astragalus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 65)

# 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 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
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 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
8 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088
9 A Double-Blind, Randomized Control Trial Comparing Botulinum Toxin Type A (Botox) and Placebo in the Treatment of Idiopathic Clubfoot Unknown status NCT00152347 Botox
10 Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneus Unknown status NCT01767662
11 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140
12 Genetic Disease Gene Identification Unknown status NCT00916903
13 Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft Unknown status NCT01645267
14 Calcaneal Neck Lengthening Osteotomy in Children With Artificial Bone Graft Unknown status NCT01618812
15 Clubfoot DNA Repository Completed NCT00607191
16 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
17 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
18 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
19 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
20 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306
21 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
22 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185
23 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651
24 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Botulinic toxin (Botox)
25 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Intra muscular injection of Botulinum toxin
26 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
27 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
28 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
29 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538
30 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882
31 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
32 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327
33 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566
34 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
35 Weightbearing Assessment of Tarsal Instability Completed NCT01868789
36 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179
37 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
38 The Outcome Effect of Shoe Lift for Individuals With Low Back Pain and Pronated Foot Due to Anatomical Leg Length Discrepancy Completed NCT01187693
39 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Recruiting NCT02755766
40 Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot Recruiting NCT02815215 Early Phase 1
41 Using Botox to Treat Patients With Idiopathic Clubfoot Recruiting NCT00474032 Botulinum Toxin (Type A) injection (10 U/Kg)
42 Pedobarographic Assessments of Clubfoot Treated Patients Recruiting NCT00175708
43 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
44 Dynamic Evaluation of Ankle Joint and Muscle Mechanics in Children With Spastic Equinus Deformity Due to Cerebral Palsy Recruiting NCT02814786
45 MiracleFeet Foot Abduction Brace Sensor Trial Recruiting NCT03249805
46 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
47 Talonavicular Arthrodesis and Surgical Treatment of Ankle and Varus Foot Recruiting NCT02790346
48 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Recruiting NCT01751503
49 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
50 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome Recruiting NCT03262844

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 28 PITX1
2 Talipes 28

Anatomical Context for Talipes Equinovarus

MalaCards organs/tissues related to Talipes Equinovarus:

38
Bone

Publications for Talipes Equinovarus

Articles related to Talipes Equinovarus:

(show top 50) (show all 244)
# Title Authors Year
1
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
2
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
3
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2017
4
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
5
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
6
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
7
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
8
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
9
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
10
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
11
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
12
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
13
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
14
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
15
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
16
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
17
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
18
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
19
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
20
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
21
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
22
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
23
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
24
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
25
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
26
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2015
27
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
28
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
29
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
30
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
31
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
32
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2014
33
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
34
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
35
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
36
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
37
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. ( 22892537 )
2013
38
Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area. ( 23482273 )
2013
39
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013
40
Congenital idiopathic talipes equinovarus: an evaluation in infants treated by the Ponseti method. ( 24142617 )
2013
41
3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot). ( 23382871 )
2013
42
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. ( 23678225 )
2013
43
SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus. ( 23254326 )
2013
44
A single-center prospective evaluation of the Ponseti method in nonidiopathic congenital talipes equinovarus. ( 22892629 )
2012
45
Congenital talipes equinovarus: an epidemiological study in Sicily. ( 22489891 )
2012
46
Assessment of calf volume in Congenital Talipes Equinovarus by computer analysed digital photography. ( 22385530 )
2012
47
Assessment of talipes equinovarus treated by Ponseti technique: three-year preliminary report. ( 22387138 )
2012
48
Prenatal detection and postnatal outcome of congenital talipes equinovarus in 106 fetuses. ( 22580510 )
2012
49
Correlation of foot bimalleolar angle with Pirani score to assess the severity of congenital talipes equinovarus deformity. ( 21912337 )
2012
50
The inter-relationship of clinical parameters in congenital talipes equinovarus: relevance to pathological anatomy and clinical classification. ( 23450265 )
2012

Variations for Talipes Equinovarus

ClinVar genetic disease variations for Talipes Equinovarus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
2 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
3 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
4 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
5 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980

Expression for Talipes Equinovarus

Search GEO for disease gene expression data for Talipes Equinovarus.

Pathways for Talipes Equinovarus

GO Terms for Talipes Equinovarus

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.71 GLI3 HOXD13 IRF6 PITX1
2 negative regulation of cell proliferation GO:0008285 9.63 GLI3 IRF6 RBM10
3 anterior/posterior pattern specification GO:0009952 9.48 GLI3 HOXD13
4 embryonic digit morphogenesis GO:0042733 9.43 GLI3 HOXD13
5 pattern specification process GO:0007389 9.37 GLI3 HOXD13
6 embryonic limb morphogenesis GO:0030326 9.32 GLI3 HOXD13
7 skin development GO:0043588 9.26 IRF6 RYR1
8 transcription by RNA polymerase II GO:0006366 9.26 GLI3 HOXD13 IRF6 PITX1
9 limb morphogenesis GO:0035108 9.16 GLI3 HOXD13
10 prostate gland development GO:0030850 8.62 GLI3 HOXD13

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.46 GLI3 HOXD13 IRF6 PITX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 GLI3 HOXD13 PITX1
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.13 GLI3 HOXD13 PITX1
4 sequence-specific DNA binding GO:0043565 8.92 GLI3 HOXD13 IRF6 PITX1

Sources for Talipes Equinovarus

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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50 NINDS
51 Novoseek
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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