CTEV
MCID: TLP001
MIFTS: 41

Talipes Equinovarus (CTEV)

Categories: Rare diseases

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 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and tibial hemimelia. An important gene associated with Talipes Equinovarus is PITX1 (Paired Like Homeodomain 1). The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are cardiovascular system and embryo

Related Diseases for Talipes Equinovarus

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 31.9 CC2D2A DARS2 KIAA1109 PITX1 PLOD2 RYR1
2 tibial hemimelia 30.1 GLI3 PITX1
3 anus, imperforate 29.9 GLI3 HOXD13
4 scoliosis 29.9 RYR1 TRPV4 TTN
5 neuromuscular disease 29.5 RYR1 TRPV4 TTN
6 tarp syndrome 12.2
7 esophageal atresia coloboma talipes 12.0
8 short stature talipes natal teeth 12.0
9 xeroderma talipes enamel defects 12.0
10 short stature robin sequence cleft mandible hand anomalies clubfoot 12.0
11 familial clubfoot with or without associated lower limb anomalies 12.0
12 clubfoot 12.0
13 musculocontractural ehlers-danlos syndrome 11.8
14 arthrogryposis, distal, type 3 11.7
15 robin sequence with cleft mandible and limb anomalies 11.7
16 crane-heise syndrome 11.5
17 popliteal pterygium syndrome 11.3
18 cyprus facial neuromusculoskeletal syndrome 11.3
19 vertical talus, congenital 11.3
20 dyssegmental dysplasia, silverman-handmaker type 11.3
21 pseudodiastrophic dysplasia 11.3
22 ehlers-danlos syndrome, musculocontractural type, 1 11.3
23 acromelic frontonasal dysostosis 11.3
24 moebius syndrome 11.2
25 epiphyseal dysplasia, multiple, 4 11.2
26 myopathy, congenital, bailey-bloch 11.2
27 arthrogryposis, distal, type 1a 11.1
28 spondyloepiphyseal dysplasia with congenital joint dislocations 11.1
29 spondyloepimetaphyseal dysplasia, strudwick type 11.1
30 lambert syndrome 11.1
31 chromosome 17q23.1-q23.2 duplication syndrome 11.1
32 diastrophic dysplasia 11.1
33 atelosteogenesis, type ii 11.1
34 genitopatellar syndrome 11.1
35 arthrogryposis, distal, type 5d 11.1
36 loeys-dietz syndrome 5 11.1
37 hydrocephalus-cleft palate-joint contractures syndrome 11.1
38 brachydactyly, type a4 11.0
39 catel-manzke syndrome 11.0
40 karak syndrome 11.0
41 arthrogryposis, distal, type 5 10.9
42 larsen syndrome 10.9
43 orofaciodigital syndrome iv 10.9
44 spondyloperipheral dysplasia 10.9
45 spondylocarpotarsal synostosis syndrome 10.9
46 bruck syndrome 2 10.9
47 arthrogryposis, distal, type 1b 10.9
48 epileptic encephalopathy, early infantile, 29 10.9
49 lethal congenital contracture syndrome 11 10.9
50 saul-wilson syndrome 10.9

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 CC2D2A COL5A1 GLI3 PITX1 PKD1 RYR1
2 embryo MP:0005380 10.03 CC2D2A COL5A1 GLI3 HOXD13 IRF6 PITX1
3 craniofacial MP:0005382 10.02 CC2D2A GLI3 IRF6 PITX1 PKD1 RYR1
4 digestive/alimentary MP:0005381 10 CC2D2A GLI3 HOXD13 IRF6 PITX1 PKD1
5 mortality/aging MP:0010768 10 CC2D2A COL5A1 DARS2 GLI3 HOXD13 IRF6
6 integument MP:0010771 9.97 CC2D2A COL5A1 GLI3 HOXD13 IRF6 PKD1
7 limbs/digits/tail MP:0005371 9.92 CC2D2A COL9A1 GLI3 HOXD13 IRF6 PITX1
8 hearing/vestibular/ear MP:0005377 9.88 CC2D2A COL9A1 GLI3 IRF6 PITX1 TRPV4
9 muscle MP:0005369 9.63 HOXD13 PITX1 PKD1 RYR1 TRPV4 TTN
10 skeleton MP:0005390 9.56 COL9A1 GLI3 HOXD13 IRF6 PITX1 PKD1
11 vision/eye MP:0005391 9.23 CC2D2A COL5A1 COL9A1 GLI3 HOXD13 KIAA1109

Drugs & Therapeutics for Talipes Equinovarus

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

(show all 33)
# 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 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
4 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
8 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
9 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
13 Anesthetics Phase 3
14 Hemagglutinins Phase 2
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
leucovorin Approved Not Applicable 58-05-9 6006 143
18
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
19
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
20
Cobalamin Experimental Not Applicable 13408-78-1 6438156
21 Neuroserpin
22 Astragalus
23 Analgesics Not Applicable
24 Vitamins Not Applicable
25 Micronutrients Not Applicable
26 Vitamin B9 Not Applicable
27 Vitamin B Complex Not Applicable
28 Folate Not Applicable
29 Hematinics Not Applicable
30 Trace Elements Not Applicable
31 Vitamin B 12 Not Applicable
32 Vitamin B12 Not Applicable
33 Calcium, Dietary Not Applicable

Interventional clinical trials:

(show top 50) (show all 78)
# 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 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 Children Born With Club Feet Completed NCT03671863
19 Clubfoot DNA Repository Completed NCT00607191
20 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
21 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
22 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
23 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
24 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306 Not Applicable
25 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
26 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185 Not Applicable
27 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651 Not Applicable
28 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
29 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Not Applicable Botulinic toxin (Botox)
30 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Not Applicable Intra muscular injection of Botulinum toxin
31 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
32 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
33 Post Marketing Surveillance Study of Dysport Completed NCT00210431
34 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
35 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
36 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
37 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
38 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
39 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
40 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
41 Muscle Fatigue and Foot Biomechanics Completed NCT03607253 Not Applicable
42 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
43 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
44 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
45 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
46 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Recruiting NCT02755766
47 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
48 Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot Recruiting NCT02815215 Early Phase 1
49 Using Botox to Treat Patients With Idiopathic Clubfoot Recruiting NCT00474032 Not Applicable Botulinum Toxin (Type A) injection (10 U/Kg)
50 Dynamic Evaluation of Ankle Joint and Muscle Mechanics in Children With Spastic Equinus Deformity Due to Cerebral Palsy Recruiting NCT02814786 Not Applicable

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, Heart

Publications for Talipes Equinovarus

Articles related to Talipes Equinovarus:

(show top 50) (show all 371)
# 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
Radiological assessment of congenital talipes equinovarus (clubfoot): Is it worthwhile? ( 30336403 )
2018
4
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2018
5
Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients. ( 29642612 )
2018
6
The etiology of idiopathic congenital talipes equinovarus: a systematic review. ( 30134936 )
2018
7
Tibialis anterior tendinopathy in a dystonic talipes calcaneovarus foot: A case treated by botulinum toxin. ( 30053629 )
2018
8
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening. ( 29473648 )
2018
9
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
10
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
11
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
12
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
13
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
14
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
15
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
16
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
17
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
18
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
19
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
20
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
21
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
22
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
23
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
24
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
25
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
26
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
27
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
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
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
31
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
32
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
33
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
34
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
35
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2015
36
A Four-year Review of Delayed Initial Treatment of Patients with Congenital Talipes equinovarus in a General Hospital. ( 28435588 )
2015
37
Outcome of Percutaneous Tenotomy in the Management of Congenital Talipes Equino Varus by Ponseti Method. ( 26329941 )
2015
38
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
39
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
40
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
41
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
42
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
43
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
44
Plantar pressures in children with congenital talipes equino varus--a comparison between surgical management and the Ponseti technique. ( 23973353 )
2014
45
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. ( 24800990 )
2014
46
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013
47
Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area. ( 23482273 )
2013
48
3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot). ( 23382871 )
2013
49
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. ( 22892537 )
2013
50
Congenital idiopathic talipes equinovarus: an evaluation in infants treated by the Ponseti method. ( 24142617 )
2013

Variations for Talipes Equinovarus

ClinVar genetic disease variations for Talipes Equinovarus:

6 (show all 32)
# 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 Conflicting interpretations of pathogenicity rs376283361 GRCh38 Chromosome 16, 2106458: 2106458
18 PKD1 NM_001009944.2(PKD1): c.7429C> T (p.Arg2477Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs376283361 GRCh37 Chromosome 16, 2156459: 2156459
19 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
20 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
21 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
22 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042
23 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
24 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
25 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 15518380: 15518380
26 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 15516757: 15516757
27 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 75030037: 75030037
28 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 76789795: 76789795
29 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh38 Chromosome 16, 2090798: 2090798
30 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh37 Chromosome 16, 2140799: 2140799
31 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 70258156: 70258156
32 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 I band GO:0031674 8.96 RYR1 TTN
2 cilium GO:0005929 8.92 CC2D2A GLI3 PKD1 TRPV4

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.5 PKD1 RYR1 TRPV4
2 branching morphogenesis of an epithelial tube GO:0048754 9.37 GLI3 PKD1
3 calcium ion transmembrane transport GO:0070588 9.33 PKD1 RYR1 TRPV4
4 limb morphogenesis GO:0035108 9.26 GLI3 HOXD13
5 prostate gland development GO:0030850 8.96 GLI3 HOXD13
6 skin development GO:0043588 8.92 COL5A1 IRF6 PKD1 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL5A1 COL9A1
2 calmodulin binding GO:0005516 9.13 RYR1 TRPV4 TTN
3 calcium channel activity GO:0005262 8.8 PKD1 RYR1 TRPV4

Sources for Talipes Equinovarus

3 CDC
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10 dbSNP
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17 ExPASy
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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74 UMLS via Orphanet
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