MCID: TLP001
MIFTS: 42

Talipes Equinovarus

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, 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 Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are cardiovascular system and embryo

Wikipedia : 77 Clubfoot is a birth defect where one or both feet are rotated inward and downward. The affected foot and... more...

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 136)
# Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 31.6 CC2D2A DARS2 KIAA1109 PITX1 PLOD2 RYR1
2 tibial hemimelia 30.3 GLI3 PITX1
3 anus, imperforate 30.1 GLI3 HOXD13
4 neuromuscular disease 29.4 RYR1 TRPV4 TTN
5 tarp syndrome 12.3
6 esophageal atresia coloboma talipes 12.1
7 short stature talipes natal teeth 12.1
8 xeroderma talipes enamel defects 12.1
9 short stature robin sequence cleft mandible hand anomalies clubfoot 12.1
10 familial clubfoot with or without associated lower limb anomalies 12.1
11 clubfoot 12.0
12 robin sequence with cleft mandible and limb anomalies 11.9
13 musculocontractural ehlers-danlos syndrome 11.9
14 arthrogryposis, distal, type 3 11.8
15 crane-heise syndrome 11.5
16 popliteal pterygium syndrome 11.3
17 cyprus facial neuromusculoskeletal syndrome 11.3
18 vertical talus, congenital 11.3
19 dyssegmental dysplasia, silverman-handmaker type 11.3
20 pseudodiastrophic dysplasia 11.3
21 ehlers-danlos syndrome, musculocontractural type, 1 11.3
22 acromelic frontonasal dysostosis 11.3
23 arthrogryposis, distal, type 2b1 11.3
24 epiphyseal dysplasia, multiple, 4 11.3
25 myopathy, congenital, bailey-bloch 11.3
26 lambert syndrome 11.2
27 chromosome 17q23.1-q23.2 duplication syndrome 11.2
28 arthrogryposis, distal, type 1a 11.2
29 spondyloepiphyseal dysplasia with congenital joint dislocations 11.2
30 spondyloepimetaphyseal dysplasia, strudwick type 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 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 larsen syndrome 11.0
42 orofaciodigital syndrome iv 11.0
43 spondyloperipheral dysplasia 11.0
44 spondylocarpotarsal synostosis syndrome 11.0
45 bruck syndrome 2 11.0
46 arthrogryposis, distal, type 1b 11.0
47 epileptic encephalopathy, early infantile, 29 11.0
48 lethal congenital contracture syndrome 11 11.0
49 chromosome 10p duplication 11.0
50 sillence syndrome 11.0

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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 CC2D2A COL5A1 GLI3 PITX1 PKD1 RYR1
2 embryo MP:0005380 10.13 CC2D2A COL5A1 GLI3 HOXD13 INPP5E IRF6
3 mortality/aging MP:0010768 10.1 CC2D2A COL5A1 DARS2 GLI3 HOXD13 INPP5E
4 craniofacial MP:0005382 10.08 CC2D2A GLI3 INPP5E IRF6 PITX1 PKD1
5 digestive/alimentary MP:0005381 10.06 CC2D2A GLI3 HOXD13 INPP5E IRF6 PITX1
6 integument MP:0010771 10.02 CC2D2A COL5A1 GLI3 HOXD13 IRF6 PKD1
7 limbs/digits/tail MP:0005371 10.02 CC2D2A COL9A1 GLI3 HOXD13 INPP5E IRF6
8 hearing/vestibular/ear MP:0005377 9.95 CC2D2A COL9A1 GLI3 IRF6 PITX1 TRPV4
9 renal/urinary system MP:0005367 9.7 CC2D2A GLI3 HOXD13 INPP5E PKD1 TNFRSF13B
10 skeleton MP:0005390 9.65 COL9A1 GLI3 HOXD13 INPP5E IRF6 PITX1
11 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 45)
# 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 Botulinum Toxins Phase 4,Phase 3,Phase 2,Not Applicable
3 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Not Applicable
4 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
5 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
6 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
8 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Cholinergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
12 Anesthetics Phase 3,Phase 2,Not Applicable
13
Procaine Approved, Investigational, Vet_approved Phase 2 59-46-1 4914
14
Chloroprocaine Approved Phase 2 133-16-4 8612
15 Hemagglutinins Phase 2
16 Central Nervous System Depressants Phase 2,Not Applicable
17 Anesthetics, Local Phase 2,Not Applicable
18
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
19
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
20
leucovorin Approved Not Applicable 58-05-9 143 6006
21
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
22
Bupivacaine Approved, Investigational Not Applicable 38396-39-3, 2180-92-9 2474
23
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
24
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
25
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
26
Cobalamin Experimental Not Applicable 13408-78-1 6857388
27 Astragalus
28 Neuroserpin
29 Analgesics Not Applicable
30 Vitamin B9 Not Applicable
31 Vitamin B Complex Not Applicable
32 Nutrients Not Applicable
33 Trace Elements Not Applicable
34 Vitamin B12 Not Applicable
35 Micronutrients Not Applicable
36 Folate Not Applicable
37 Vitamins Not Applicable
38 Vitamin B 12 Not Applicable
39 Hematinics Not Applicable
40 Anti-Arrhythmia Agents Not Applicable
41 Diuretics, Potassium Sparing Not Applicable
42 Sodium Channel Blockers Not Applicable
43 Vaccines
44 Immunologic Factors
45 Calcium, Dietary Not Applicable

Interventional clinical trials:

(show top 50) (show all 87)
# 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 The Efficacy and Safety of Chloroprocaine 1% and 2% in Pediatric Population Undergoing'Calcaneo Stop' Surgery or Inguinal Hernia Repair Enrolling by invitation NCT03918798 Phase 2 Chloroprocaine 1% Injectable Solution;Chloroprocaine 2% Injectable Solution
11 Efficacy of Botox in Patients With Idiopathic Clubfoot Unknown status NCT00152334 Not Applicable Botox
12 Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088 Not Applicable
13 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
14 Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneus Unknown status NCT01767662 Not Applicable
15 Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar Pressure Unknown status NCT02233140 Not Applicable
16 Genetic Disease Gene Identification Unknown status NCT00916903
17 Neuromuscular Study to Assess Foot Intrinsic Muscles Unknown status NCT03154853 Not Applicable
18 Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft Unknown status NCT01645267 Not Applicable
19 Calcaneal Neck Lengthening Osteotomy in Children With Artificial Bone Graft Unknown status NCT01618812
20 Children Born With Club Feet Completed NCT03671863
21 Clubfoot DNA Repository Completed NCT00607191
22 Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRI Completed NCT01088828
23 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
24 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
25 Gait Analysis in Ponseti Clubfoot Completed NCT02022267
26 Gait Analysis in Children With Clubfoot Treated With Tibialis Anterior Tendon Transfer Completed NCT03953430
27 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot Completed NCT02815306 Not Applicable
28 Outcomes of Compliance With Brace Wear in Clubfoot Completed NCT01481324
29 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185 Not Applicable
30 Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti Method Completed NCT01067651 Not Applicable
31 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
32 Treatment of Spastic Equinovarus Foot After Stroke Completed NCT00199589 Not Applicable Botulinic toxin (Botox)
33 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Completed NCT03405948 Not Applicable Intra muscular injection of Botulinum toxin
34 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
35 Impairments of Oral Language in Mobius Syndrome Completed NCT00856531
36 Post Marketing Surveillance Study of Dysport Completed NCT00210431
37 How Prefabricated Plantar Insoles Can Reduce the Pronation Completed NCT03954821
38 Association of Ingrown Toenails With Flat Foot, Hallux Abducto Valgus and Hallux Limitus Completed NCT03843177
39 Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot Completed NCT03372642
40 Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538 Not Applicable
41 Cotton Sock in Pediatric Patients With Leg-foot Splint Completed NCT03040882 Not Applicable
42 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
43 Comparison of Two Different Insole Types in Painful Flexible Flatfoot Completed NCT02706327 Not Applicable
44 Clinical Trial of the Effect of Functional Orthoses in Children With Flat Feet Completed NCT02633566 Not Applicable
45 Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet Completed NCT02055495
46 Muscle Fatigue and Foot Biomechanics Completed NCT03607253 Not Applicable
47 Weightbearing Assessment of Tarsal Instability Completed NCT01868789 Not Applicable
48 Polyurethane Foam on the Heel for Prevention in Children Completed NCT03039179 Not Applicable
49 The Development of Flat Foot After Ankle Fractures Completed NCT00507910
50 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

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
Spinal Cord

Publications for Talipes Equinovarus

Articles related to Talipes Equinovarus:

(show top 50) (show all 388)
# Title Authors Year
1
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30697014 )
2019
2
The Validity of Patient-Reported Outcome Measurement Information System (PROMIS) Parent Proxy Instruments to Assess Function in Children With Talipes Equinovarus. ( 30913133 )
2019
3
Brace Yourselves: Outcomes of Ponseti Casting and Foot Abduction Orthosis Bracing in Idiopathic Congenital Talipes Equinovarus. ( 30969199 )
2019
4
Tibialis anterior tendinopathy in a dystonic talipes calcaneovarus foot: A case treated by botulinum toxin. ( 30053629 )
2019
5
Outcome of isolated fetal talipes: a systematic review and meta-analysis. ( 31034582 )
2019
6
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30736648 )
2019
7
Radiological assessment of congenital talipes equinovarus (clubfoot): Is it worthwhile? ( 30336403 )
2018
8
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2018
9
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2018
10
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
11
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
12
Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients. ( 29642612 )
2018
13
The etiology of idiopathic congenital talipes equinovarus: a systematic review. ( 30134936 )
2018
14
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening. ( 29473648 )
2018
15
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2017
16
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2017
17
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
18
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
19
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
20
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
21
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
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
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2016
24
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
25
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2016
26
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
27
A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years. ( 27386344 )
2016
28
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
29
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
30
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
31
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
32
Correlation of Pirani score and Foot bimalleolar angle in the treatment of idiopathic congenital talipes equino varus by Ponseti method in infants. ( 29182130 )
2016
33
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
34
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
35
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2015
36
Congenital talipes equinovarus: frequency of associated malformations not identified by prenatal ultrasound. ( 25394569 )
2015
37
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
38
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
39
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
40
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
41
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
42
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
43
A Four-year Review of Delayed Initial Treatment of Patients with Congenital Talipes equinovarus in a General Hospital. ( 28435588 )
2015
44
Outcome of Percutaneous Tenotomy in the Management of Congenital Talipes Equino Varus by Ponseti Method. ( 26329941 )
2015
45
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
46
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
47
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
48
Osteopathic manipulative treatment of congenital talipes equinovarus: a case report. ( 24411143 )
2014
49
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
50
Plantar pressures in children with congenital talipes equino varus--a comparison between surgical management and the Ponseti technique. ( 23973353 )
2014

Variations for Talipes Equinovarus

ClinVar genetic disease variations for Talipes Equinovarus:

6 (show all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
2 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
3 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh37 Chromosome 1, 173797450: 173797451
4 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh38 Chromosome 1, 173828312: 173828313
5 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh37 Chromosome 1, 173800770: 173800770
6 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh38 Chromosome 1, 173831632: 173831632
7 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
8 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
9 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980
10 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh38 Chromosome 5, 135031290: 135031290
11 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
12 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh38 Chromosome 19, 38499961: 38499961
13 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
14 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
15 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
16 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh37 Chromosome 5, 134364615: 134364649
17 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
18 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
19 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh37 Chromosome 1, 116206600: 116206600
20 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh38 Chromosome 1, 115663979: 115663979
21 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
22 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
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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