CTEV
MCID: TLP001
MIFTS: 42

Talipes Equinovarus (CTEV)

Categories: Rare diseases

Aliases & Classifications for Talipes Equinovarus

MalaCards integrated aliases for Talipes Equinovarus:

Name: Talipes Equinovarus 54 30 6
Talipes 54 30 6
Congenital Talipes Equinovarus 54
Clubfoot 54
Ctev 54

Classifications:



External Ids:

ICD10 34 Q66.0

Summaries for Talipes Equinovarus

NIH Rare Diseases : 54 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 and epiphyseal dysplasia, multiple, 4. 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 growth/size/body region and cardiovascular system

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 33.1 HOXD13 PITX1 SLC26A2
2 epiphyseal dysplasia, multiple, 4 32.1 COL9A1 SLC26A2
3 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 31.6 CC2D2A DARS2 KIAA1109 PITX1 PLOD2 RYR1
4 tibial hemimelia 30.3 GLI3 PITX1
5 anus, imperforate 30.0 GLI3 HOXD13
6 neuromuscular disease 29.4 RYR1 TRPV4 TTN
7 tarp syndrome 12.3
8 esophageal atresia coloboma talipes 12.1
9 short stature talipes natal teeth 12.1
10 xeroderma talipes enamel defects 12.1
11 short stature robin sequence cleft mandible hand anomalies clubfoot 12.0
12 familial clubfoot with or without associated lower limb anomalies 12.0
13 musculocontractural ehlers-danlos syndrome 11.9
14 arthrogryposis, distal, type 3 11.8
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 11.3
25 myopathy, congenital, bailey-bloch 11.3
26 arthrogryposis, distal, type 1a 11.2
27 spondyloepiphyseal dysplasia with congenital joint dislocations 11.2
28 spondyloepimetaphyseal dysplasia, strudwick type 11.2
29 lambert syndrome 11.2
30 chromosome 17q23.1-q23.2 duplication syndrome 11.2
31 diastrophic dysplasia 11.1
32 atelosteogenesis, type ii 11.1
33 genitopatellar syndrome 11.1
34 arthrogryposis, distal, type 5d 11.1
35 loeys-dietz syndrome 5 11.1
36 saul-wilson syndrome 11.1
37 brachydactyly, type a4 11.0
38 catel-manzke syndrome 11.0
39 karak syndrome 11.0
40 arthrogryposis, distal, type 5 10.9
41 larsen syndrome 10.9
42 orofaciodigital syndrome iv 10.9
43 spondyloperipheral dysplasia 10.9
44 spondylocarpotarsal synostosis syndrome 10.9
45 bruck syndrome 2 10.9
46 arthrogryposis, distal, type 1b 10.9
47 epileptic encephalopathy, early infantile, 29 10.9
48 lethal congenital contracture syndrome 11 10.9
49 chromosome 10p duplication 10.9
50 hydrocephalus-cleft palate-joint contractures 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:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 CC2D2A COL5A1 GLI3 HOXD13 INPP5E IRF6
2 cardiovascular system MP:0005385 10.16 CC2D2A COL5A1 GLI3 PITX1 PKD1 RYR1
3 embryo MP:0005380 10.16 CC2D2A COL5A1 GLI3 HOXD13 INPP5E IRF6
4 craniofacial MP:0005382 10.15 CC2D2A GLI3 INPP5E IRF6 PITX1 PKD1
5 mortality/aging MP:0010768 10.13 CC2D2A COL5A1 DARS2 GLI3 HOXD13 INPP5E
6 digestive/alimentary MP:0005381 10.08 CC2D2A GLI3 HOXD13 INPP5E IRF6 PITX1
7 limbs/digits/tail MP:0005371 10.06 CC2D2A COL9A1 GLI3 HOXD13 INPP5E IRF6
8 integument MP:0010771 10.02 CC2D2A COL5A1 GLI3 HOXD13 IRF6 PKD1
9 hearing/vestibular/ear MP:0005377 9.95 CC2D2A COL9A1 GLI3 IRF6 PITX1 TRPV4
10 renal/urinary system MP:0005367 9.7 CC2D2A GLI3 HOXD13 INPP5E PKD1 TNFRSF13B
11 skeleton MP:0005390 9.7 COL9A1 GLI3 HOXD13 INPP5E IRF6 PITX1
12 vision/eye MP:0005391 9.32 CC2D2A COL5A1 COL9A1 GLI3 HOXD13 INPP5E

Drugs & Therapeutics for Talipes Equinovarus

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 51-84-3 187
2 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
4 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
6 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
8 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter 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
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 15589840
15
leucovorin Approved Not Applicable 58-05-9 6006 143
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
18
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
19
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
20
Cobalamin Experimental Not Applicable 13408-78-1 6857388
21 Astragalus
22 Neuroserpin
23 Analgesics Not Applicable
24 Nutrients Not Applicable
25 Vitamin B Complex Not Applicable
26 Trace Elements Not Applicable
27 Vitamins Not Applicable
28 Hematinics Not Applicable
29 Vitamin B 12 Not Applicable
30 Folate Not Applicable
31 Vitamin B9 Not Applicable
32 Micronutrients Not Applicable
33 Vitamin B12 Not Applicable
34 Immunologic Factors
35 Vaccines
36 Calcium, Dietary Not Applicable

Interventional clinical trials:

(show top 50) (show all 83)
# 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 Association of Ingrown Toenails With Flat Foot, Hallux Abducto Valgus and Hallux Limitus Completed NCT03843177
35 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
36 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
37 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
38 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
39 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
40 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
41 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
42 Muscle Fatigue and Foot Biomechanics Completed NCT03607253 Not Applicable
43 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
44 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
45 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
46 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
47 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Recruiting NCT02755766
48 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
49 Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot Recruiting NCT02815215 Early Phase 1
50 Customized Orthosis for Children With Clubfoot Recruiting NCT03853811 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 30 PITX1
2 Talipes 30

Anatomical Context for Talipes Equinovarus

MalaCards organs/tissues related to Talipes Equinovarus:

42
Bone

Publications for Talipes Equinovarus

Articles related to Talipes Equinovarus:

(show top 50) (show all 374)
# Title Authors Year
1
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30697014 )
2019
2
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30736648 )
2019
3
The Validity of Patient-Reported Outcome Measurement Information System (PROMIS) Parent Proxy Instruments to Assess Function in Children With Talipes Equinovarus. ( 30913133 )
2019
4
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
5
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
6
Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients. ( 29642612 )
2018
7
Radiological assessment of congenital talipes equinovarus (clubfoot): Is it worthwhile? ( 30336403 )
2018
8
The etiology of idiopathic congenital talipes equinovarus: a systematic review. ( 30134936 )
2018
9
Tibialis anterior tendinopathy in a dystonic talipes calcaneovarus foot: A case treated by botulinum toxin. ( 30053629 )
2018
10
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening. ( 29473648 )
2018
11
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
12
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
13
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
14
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
15
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
16
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
17
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2017
18
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
19
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
20
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
21
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
22
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
23
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
24
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
25
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
26
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
27
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
28
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
29
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
30
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2015
31
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
32
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
33
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
34
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
35
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
36
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
37
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
38
A Four-year Review of Delayed Initial Treatment of Patients with Congenital Talipes equinovarus in a General Hospital. ( 28435588 )
2015
39
Outcome of Percutaneous Tenotomy in the Management of Congenital Talipes Equino Varus by Ponseti Method. ( 26329941 )
2015
40
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
41
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
42
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
43
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
44
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
45
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
46
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2014
47
Plantar pressures in children with congenital talipes equino varus--a comparison between surgical management and the Ponseti technique. ( 23973353 )
2014
48
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. ( 24800990 )
2014
49
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013
50
Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area. ( 23482273 )
2013

Variations for Talipes Equinovarus

ClinVar genetic disease variations for Talipes Equinovarus:

6 (show all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh37 Chromosome 1, 116206600: 116206600
2 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh38 Chromosome 1, 115663979: 115663979
3 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
4 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
5 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
6 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
7 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh37 Chromosome 1, 173797450: 173797451
8 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh38 Chromosome 1, 173828312: 173828313
9 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh37 Chromosome 1, 173800770: 173800770
10 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh38 Chromosome 1, 173831632: 173831632
11 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
12 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
13 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980
14 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh38 Chromosome 5, 135031290: 135031290
15 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
16 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh38 Chromosome 19, 38499961: 38499961
17 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
18 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
19 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
20 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh37 Chromosome 5, 134364615: 134364649
21 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
22 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
23 PKD1 NM_001009944.2(PKD1): c.7429C> T (p.Arg2477Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs376283361 GRCh38 Chromosome 16, 2106458: 2106458
24 PKD1 NM_001009944.2(PKD1): c.7429C> T (p.Arg2477Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs376283361 GRCh37 Chromosome 16, 2156459: 2156459
25 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
26 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
27 complex Uncertain significance
28 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
29 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
30 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
31 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042
32 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
33 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
34 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 GRCh37 Chromosome 4, 15518380: 15518380
35 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 GRCh38 Chromosome 4, 15516757: 15516757
36 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic rs1554846212 GRCh38 Chromosome 10, 75030037: 75030037
37 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic rs1554846212 GRCh37 Chromosome 10, 76789795: 76789795
38 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh38 Chromosome 16, 2090798: 2090798
39 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh37 Chromosome 16, 2140799: 2140799
40 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance rs1555539904 GRCh38 Chromosome 16, 70258156: 70258156
41 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance rs1555539904 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 9.02 CC2D2A GLI3 INPP5E PKD1 TRPV4
2 I band GO:0031674 8.96 RYR1 TTN

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 GLI3 HOXD13 IRF6 PITX1 PKD1 WNT7A
2 calcium ion transport GO:0006816 9.67 PKD1 RYR1 TRPV4
3 calcium ion transmembrane transport GO:0070588 9.61 PKD1 RYR1 TRPV4
4 embryonic hindlimb morphogenesis GO:0035116 9.52 PITX1 WNT7A
5 branching morphogenesis of an epithelial tube GO:0048754 9.51 GLI3 PKD1
6 limb morphogenesis GO:0035108 9.48 GLI3 HOXD13
7 cartilage development GO:0051216 9.43 PITX1 PKD1 WNT7A
8 cartilage condensation GO:0001502 9.4 PKD1 WNT7A
9 prostate gland development GO:0030850 9.37 GLI3 HOXD13
10 embryonic digit morphogenesis GO:0042733 9.33 GLI3 HOXD13 WNT7A
11 wound healing, spreading of epidermal cells GO:0035313 9.32 COL5A1 WNT7A
12 embryonic limb morphogenesis GO:0030326 9.13 GLI3 HOXD13 WNT7A
13 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 calcium channel activity GO:0005262 8.8 PKD1 RYR1 TRPV4

Sources for Talipes Equinovarus

3 CDC
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75 UMLS via Orphanet
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