Clubfoot (CTEV)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Clubfoot

MalaCards integrated aliases for Clubfoot:

Name: Clubfoot 12 74 52 29 54 6 43 15
Talipes 52 29 6
Congenital Talipes Equinovarus 12 52
Congenital Clubfoot 12 36
Equinovarus Deformity of Foot 12
Congenital Equinovarus 12
Talipes Equinovarus 52
Club Foot 54
Ctev 52


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Disease Ontology 12 DOID:11836
KEGG 36 H00903
ICD9CM 34 754.51
MeSH 43 D003025
NCIt 49 C84641
SNOMED-CT 67 397932003
ICD10 32 Q66.89
UMLS 71 C0009081

Summaries for Clubfoot

NIH Rare Diseases : 52 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.

MalaCards based summary : Clubfoot, also known as talipes, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and arthrogryposis, distal, type 1a. An important gene associated with Clubfoot is PITX1 (Paired Like Homeodomain 1), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are cardiovascular system and mortality/aging

Disease Ontology : 12 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.

KEGG : 36 Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.

Wikipedia : 74 Clubfoot is a birth defect where one or both feet are rotated inward and downward. The affected foot and... more...

Related Diseases for Clubfoot

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

(show top 50) (show all 278)
# Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 34.8 TRPV4 TNFRSF13B RYR1 PLOD2 PITX1 KIAA1109
2 arthrogryposis, distal, type 1a 33.3 TPM2 TNNT3 RYR1 MYH3 MYBPC1
3 arthrogryposis, distal, type 2b1 33.0 TPM2 TNNT3 MYH3
4 arthrogryposis, distal, type 2a 33.0 TPM2 TNNT3 MYH3 MYBPC1
5 saul-wilson syndrome 33.0 ZNF664 CHST3 CHST14
6 arthrogryposis, distal, type 7 32.8 TPM2 TNNT3 MYH3
7 arthrogryposis, distal, type 5d 32.7 TNNT3 MYH3 MYBPC1
8 spondyloepiphyseal dysplasia with congenital joint dislocations 32.6 TRPV4 SLC26A2 COL2A1 CHST3
9 arthrogryposis, distal, type 1b 32.4 TNNT3 MYBPC1
10 spondyloepiphyseal dysplasia congenita 32.3 COL2A1 CHST3
11 larsen syndrome 32.2 TBX4 SLC26A2 COL2A1 CHST3 CHST14
12 avascular necrosis 31.6 TRPV4 COL2A1
13 distal arthrogryposis 31.5 TPM2 TNNT3 RYR1 MYH3 MYBPC1
14 congenital contractures 31.1 TNNT3 RYR1 CHST14
15 congenital fiber-type disproportion 30.9 TPM2 TNNT3 RYR1
16 chromosome 17q23.1-q23.2 deletion syndrome 30.8 TBX4 PITX1
17 multiple pterygium syndrome, escobar variant 30.6 TPM2 TNNT3 RYR1 MYH3
18 scoliosis 30.6 TRPV4 RYR1 PLOD2 PITX1 MYH3 MYBPC1
19 autosomal recessive disease 30.4 SLC26A2 PLOD2 MYH3 DARS2
20 esophageal atresia coloboma talipes 12.3
21 familial clubfoot with or without associated lower limb anomalies 12.2
22 robin sequence with cleft mandible and limb anomalies 12.1
23 musculocontractural ehlers-danlos syndrome 12.0
24 arthrogryposis, distal, type 3 12.0
25 tarp syndrome 11.9
26 ehlers-danlos syndrome, musculocontractural type, 1 11.8
27 crane-heise syndrome 11.7
28 chromosome 17q23.1-q23.2 duplication syndrome 11.7
29 alkuraya-kucinskas syndrome 11.5
30 cyprus facial neuromusculoskeletal syndrome 11.5
31 radial defect robin sequence 11.5
32 epiphyseal dysplasia, multiple, 4 11.4
33 popliteal pterygium syndrome 11.4
34 dyssegmental dysplasia, silverman-handmaker type 11.4
35 acromelic frontonasal dysostosis 11.4
36 al-gazali syndrome 11.4
37 chromosome 15q26-qter deletion syndrome 11.4
38 vertical talus, congenital 11.4
39 moebius syndrome 11.4
40 myotonic dystrophy 11.4
41 myopathy, congenital, bailey-bloch 11.4
42 spondyloepimetaphyseal dysplasia, strudwick type 11.3
43 lambert syndrome 11.3
44 atelosteogenesis, type ii 11.3
45 genitopatellar syndrome 11.3
46 charge syndrome 11.3
47 stac3 disorder 11.3
48 pseudoainhum 11.3
49 aase-smith syndrome i 11.2
50 diastrophic dysplasia 11.2

Graphical network of the top 20 diseases related to Clubfoot:

Diseases related to Clubfoot

Symptoms & Phenotypes for Clubfoot

MGI Mouse Phenotypes related to Clubfoot:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 AARS1 CC2D2A CHST14 COL2A1 KIAA1109 PITX1
2 mortality/aging MP:0010768 10 AARS1 CC2D2A CHST14 COL2A1 DARS2 INPP5E
3 limbs/digits/tail MP:0005371 9.91 CC2D2A CHST14 COL2A1 INPP5E PITX1 RYR1
4 craniofacial MP:0005382 9.87 CC2D2A CHST14 COL2A1 INPP5E PITX1 RYR1
5 renal/urinary system MP:0005367 9.5 CC2D2A CHST14 COL2A1 INPP5E TNFRSF13B TNNT3
6 skeleton MP:0005390 9.28 CHST14 CHST3 COL2A1 INPP5E PITX1 RYR1

Drugs & Therapeutics for Clubfoot

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Botulinum Toxins Phase 4
4 Botulinum Toxins, Type A Phase 4
5 Cholinergic Agents Phase 4
6 incobotulinumtoxinA Phase 4
Ketamine Approved, Vet_approved Phase 2, Phase 3 6740-88-1 3821
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
9 Anesthetics Phase 3
10 Excitatory Amino Acid Antagonists Phase 2, Phase 3
11 Anesthetics, Dissociative Phase 2, Phase 3
12 Anesthetics, General Phase 2, Phase 3
13 Anesthetics, Local Phase 2, Phase 3
14 Anesthetics, Intravenous Phase 2, Phase 3
15 Hemagglutinins Phase 2
Adenosine Approved, Investigational 58-61-7 60961
17 Astragalus
18 Neurotransmitter Agents
19 Pharmaceutical Solutions
20 Analgesics
21 Anti-Arrhythmia Agents
22 Vasodilator Agents

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Video and Temporal Spatial Parameters Assessment of Gait After Dysport Treatment. A Pilot Study Completed NCT03501043 Phase 4 Dysport
2 Effects of Repeated Use of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot in Stroke Patients: A Randomized Clinical Trial Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
3 Study of the Efficacy of the Selective Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patient Following the ICF Model. A Prospective, Randomized, Controlled Single Blind Study Completed NCT00825097 Phase 3 Botulinum toxin injection
4 Infra-orbital Nerve Block for Post Operative Analgesia in Young Children Undergoing Pediatric Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3 Bupivacaine;Ketamine
5 Multi-center Open Comparative Randomized Trial of Clinical and Neurophysiological Efficacy and Safety of Xeomin (Botulinum Toxin Type A) vs. Botox (Complex of Botulinum Toxin Type A and Hemagglutinin) in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
6 Treatment of Idiopathic Clubfoot Utilizing Botulinum Toxin A: A New Treatment for Correction Unknown status NCT00152334 Botox
7 A Retrospective Multicenter Analysis on Treatment of Congenital Idiopathic Clubfoot With Minimally Invasive Carroll's Technique Unknown status NCT02815215 Early Phase 1
8 Effectiveness of Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088
9 Natural History and Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneovalgus,a Randomized Controlled Trial Unknown status NCT01767662
10 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
11 Do Physical Manipulation Exercises With EPAT Improve Ankle Dorsiflexion and Reduce Dynamic Plantar Forefoot Pressure in Diabetic Subjects With Equinus?: A Pilot RCT Unknown status NCT02233140
12 In Vivo Dynamic Evaluation of Ankle Joint and Muscle Mechanics in Children With Spastic Equinus Deformity Due to Cerebral Palsy: Implications for Recurrent Equinus. Unknown status NCT02814786
13 Genetic Disease Gene Identification Unknown status NCT00916903
14 The Pma Mouse and the Developmental Basis of Clubfoot: MRI Anatomical Modelling of Human ICTEV (Clubfoot) Completed NCT01088828
15 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
16 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot in Newborns and Infants Completed NCT02815306
17 Clubfoot DNA Repository Completed NCT00607191
18 A Double-Blind, Randomized Control Trial Comparing Botulinum Toxin Type A (Botox) and Placebo in the Treatment of Idiopathic Clubfoot Completed NCT00152347 Botox
19 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
20 Comparison of Two Different Cast Materials for the Treatment of Congenital Idiopathic Clubfoot Using the Ponseti Method: A Prospective Randomized Controlled Trial Completed NCT01067651
21 Measurement of Compliance in Clubfoot Bracing Via a Novel Pressure Sensor Completed NCT01481324
22 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research (CAMR) Completed NCT00210431
23 Normalization of Forefoot Supination After Tibialis Anterior Tendon Transfer for Dynamic Clubfoot Recurrence Completed NCT03953430
24 Results of Gait Analysis Including Oxford Foot Model in Children With Clubfoot Treated With the Ponseti Method Completed NCT02022267
25 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185
26 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
27 Treatment of Spastic Equinovarus Foot After Stroke. Efficacy: Association Between Ankle Foot Orthosis and Botulinum Toxin A (BTA) Injection Completed NCT00199589 Botulinic toxin (Botox)
28 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Completed NCT02755766
29 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Randomized Controlled Trial Versus Placebo Completed NCT03405948 Intra muscular injection of Botulinum toxin
30 Study of the Efficacy and Safety of the Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot With ICF Assessment Completed NCT01265238
31 Children Born With Club Feet: Ultrasound Diagnosis and Antenatal Assessment Completed NCT03671863
32 Determination of the Pathophysicologic Collagen Changes in the Diabetic Achilles Tendon. Completed NCT01382628
33 Impairments of Oral Language in Subjects With the Möbius Sequence Completed NCT00856531
34 Customized Orthosis for Children With Clubfoot Following Ponseti Casting Recruiting NCT03853811
35 Efficacy of Botox in Patients With Idiopathic Clubfoot Recruiting NCT00474032 Botulinum Toxin (Type A) injection (10 U/Kg)
36 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
37 Efficacy of a New Design of Foot Abduction Brace (FAB) Compared to Standard FAB During Ponseti Treatment of Idiopathic Clubfoot by Measuring Rate of Recurrence and Compliance Using Novel Touch Sensors Recruiting NCT03249805
38 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Recruiting NCT03262844
39 Duration of Brace Wear in Clubfoot Treatment - A Prospective Randomized Trail Active, not recruiting NCT01551264
40 Osteopathic Approach Into Neonatology Ward: the NE-O Model Available NCT01902563
41 Rate Of Residual Clubfoot Deformity With Correlation To Absence Of Peroneus Tertius Muscle: A Prospective Study Not yet recruiting NCT03749265
42 A Multicenter Study on the Treatment of Recurrent Clubfoot With the Tendon Release of Musculi Tibialis Posterior Not yet recruiting NCT04212663
43 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Suspended NCT03059264
44 Ankle Equinus Contracture Treated With Dynamic Splinting in a Randomized, Controlled Trial Terminated NCT01238484
45 The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Plafond (Pilon) Fractures: A Pilot Study Terminated NCT02051933 Botox;Placebo
46 Prospective Randomized Controlled Trial Comparing Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer. Terminated NCT01751503
47 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475
48 Comparison of Ponseti Method Versus Older Treatments in Talipes Equinovarus Through Gait Analysis and Clinical Results Withdrawn NCT03580746
49 Economic Evaluation of Clubfoot Treatment: One Centre's Experience Withdrawn NCT00475631
50 Surgical Treatment of Plantar Fasciitis: Instep Plantar Fasciotomy With and Without Gastrocnemius Recession Withdrawn NCT02287714

Search NIH Clinical Center for Clubfoot

Cochrane evidence based reviews: clubfoot

Genetic Tests for Clubfoot

Genetic tests related to Clubfoot:

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

Anatomical Context for Clubfoot

MalaCards organs/tissues related to Clubfoot:

Bone, Brain, Skin, Skeletal Muscle, Testes, Spinal Cord, Heart

Publications for Clubfoot

Articles related to Clubfoot:

(show top 50) (show all 3149)
# Title Authors PMID Year
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 54 61
20101701 2010
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot). 54 61
11950872 2002
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 61 54
11565064 2001
In-toeing gait in children with clubfoot and the effect of tibial rotation osteotomy. 61
31651746 2020
A new anchoring technique for tibialis anterior tendon transfer. 61
31725537 2020
YouTube as an information source for clubfoot: a quality analysis of video content. 61
31725533 2020
Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies. 61
32339917 2020
Global prevalence estimates of three chronic musculoskeletal conditions: club foot, juvenile idiopathic arthritis and juvenile systemic lupus erythematosus. 61
32532304 2020
The role of clubfoot training programmes in low- and middle-income countries: a systematic review. 61
32571163 2020
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus. 61
32236576 2020
Successful Ponseti-treated Clubfeet at Age 2 Years: What is the Rate of Surgical Intervention After This? 61
32558742 2020
Correction of the Neglected Clubfoot in the Adolescent and Adult Patient. 61
32381310 2020
Treatment for Clubfoot: Stockinette Versus Webril Cast Padding in the Ponseti Method. 61
32569033 2020
Myelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury? 61
31613408 2020
What a paediatrician should know about congenital clubfoot. 61
32498693 2020
Rare and de novo duplications containing SHOX in clubfoot. 61
32518174 2020
Talipes Equinovarus Treatment in Infants Treated by the Ponseti Method Compared With Posterior-Only Release: A Mid-Childhood Comparison of Results. 61
32482579 2020
Interventions for congenital talipes equinovarus (clubfoot). 61
32412098 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
Confirmation of Tenotomy Healing at 3 Weeks Using the Ponseti Protocol. 61
31952922 2020
Temporal Variation of Scores Along the Course of the Ponseti Treatment in Older Children: A Ready Guide to Progress of Treatment. 61
31335484 2020
Objective Measurement of Brace Wear in Successfully Ponseti-Treated Clubfeet: Pattern of Decreasing Use in the First 2 Years. 61
31436753 2020
Guided Growth for Ankle Valgus Deformity: The Challenges of Hardware Removal. 61
32398628 2020
Plantar Pressure Distribution of Right and Left Foot in Bilateral Clubfoot Treated by Ponseti Method: A Correlation Analysis. 61
32441275 2020
Effectiveness of therapeutic footwear for children: A systematic review. 61
32404124 2020
Clinical outcomes of iatrogenic complex clubfoot treated with modified Ponseti method. 61
32377781 2020
Increased Microvessel and Arteriole Density in the Contracted Side of the Relapsed Clubfoot. 61
32379245 2020
Complex Clubfoot Treatment With Ponseti Method: A Latin American Multicentric Study. 61
31688820 2020
Does generalized joint hypermobility influence the Ponseti treatment of clubfoot patients? 61
32453119 2020
Preference-based measures of health-related quality of life in congenital mobility impairment: a systematic review of validity and responsiveness. 61
32318840 2020
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. 61
31655143 2020
The Influence of Achilles Tenotomy and Compliance with Foot Abduction Orthosis on the Relapse Rate of Ponseti Treatment for Idiopathic Clubfoot: A Regional Study. 61
32307285 2020
A retrospective study of idiopathic clubfoot managed by Ponseti method using Pirani and Dimeglio scoring, in Indian population: a minimum 3-year follow-up. 61
32301826 2020
Results of JESS (Joshi's External Stabilizing System) in Relapsed, Neglected and Neurogenic Clubfoot in an Age Group of 2-10 Years. 61
32468991 2020
A combined method for binning coupling angles to define coordination patterns. 61
32169285 2020
The influence of laterality, sex and family history on clubfoot severity. 61
32351628 2020
Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series. 61
31891236 2020
Variations in arterial pedal circulation in idiopathic congenital talipes equinovarus: a systematic review. 61
32195760 2020
Use of PROMIS in Assessment of Children With Ponseti-treated Idiopathic Clubfoot: Better Scores With Greater Than 3 Years of Brace Use. 61
32235190 2020
Is the Denis Browne Splint a Myth? A Long-Term Prospective Cohort Study in Clubfoot Management using Denis Browne Splint Versus Daily Exercise Protocol. 61
32130997 2020
Generation and characterization of a human iPSC line derived from congenital clubfoot amniotic fluid cells. 61
31986484 2020
Results of Modified Ponseti Technique in Difficult Clubfoot and a review of literature. 61
32099284 2020
Correlation of scores with number of Ponseti casts required for clubfoot correction in the older child. 61
32099285 2020
Nwdps protocol - A simple functional outcome assessment tool for clubfoot correction and a review of literature. 61
32099286 2020
Comparison of three different methods of anterior tibial tendon transfer for relapsed clubfoot: A pilot study. 61
32099287 2020
Results of a Standard versus an Accelerated Ponseti Protocol for Clubfoot: A Prospective Randomized Study. 61
32117545 2020
Early Radiographic Changes in the Lateral Talocalcaneal Angle Following Achilles Tenotomy in Children With Idiopathic Clubfoot. 61
31855081 2020
Normalization of Forefoot Supination After Tibialis Anterior Tendon Transfer for Dynamic Clubfoot Recurrence. 61
32205682 2020
Does an overcorrected clubfoot caused by surgery or by the Ponseti method behave differently? 61
32135471 2020

Variations for Clubfoot

ClinVar genetic disease variations for Clubfoot:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>ASNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
2 PITX1 NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)SNV Pathogenic 7505 rs121909109 5:134366980-134366980 5:135031290-135031290
3 46;XX;t(7;13)(p13;q34)dnTranslocation Pathogenic 267841
4 46;XY;t(2;10)(p25;q26)dnTranslocation Pathogenic 268018
5 DARS2 NM_018122.5(DARS2):c.492+2T>CSNV Pathogenic 1062 rs142433332 1:173800770-173800770 1:173831632-173831632
6 DARS2 NM_018122.5(DARS2):c.228-21_228-20delinsCindel Pathogenic 1057 rs1553201258 1:173797450-173797451 1:173828312-173828313
7 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
8 PITX1 NM_002653.5(PITX1):c.765_799del (p.Ala256fs)deletion Pathogenic 37253 rs730882191 5:134364615-134364649 5:135028925-135028959
9 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys)SNV Pathogenic 12989 rs118192174 19:38990601-38990601 19:38499961-38499961
10 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His)SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819
11 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)SNV Pathogenic/Likely pathogenic 400 rs121918130 9:139327634-139327634 9:136433182-136433182
12 PLOD2 NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)SNV Pathogenic/Likely pathogenic 374012 rs780770356 3:145788912-145788912 3:146071125-146071125
13 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter)SNV Pathogenic/Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
14 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)SNV risk factor 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
15 KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037
16 PLOD2 NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)SNV Likely pathogenic 374011 rs778360818 3:145797042-145797042 3:146079255-146079255
17 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs)deletion Likely pathogenic 374067 rs1057518871 9:137690256-137690256 9:134798410-134798410
18 PKD1 NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)SNV Conflicting interpretations of pathogenicity 257000 rs376283361 16:2156459-2156459 16:2106458-2106458
19 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)SNV Conflicting interpretations of pathogenicity 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
20 PKD1 NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)SNV Uncertain significance 523352 rs760873748 16:2140799-2140799 16:2090798-2090798
21 AARS1 NM_001605.2(AARS1):c.2054T>C (p.Val685Ala)SNV Uncertain significance 523443 rs1555539904 16:70292059-70292059 16:70258156-70258156
22 46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dncomplex Uncertain significance 268021

Expression for Clubfoot

Search GEO for disease gene expression data for Clubfoot.

Pathways for Clubfoot

GO Terms for Clubfoot

Cellular components related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 8.62 MYH3 MYBPC1

Biological processes related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation GO:0043039 9.32 DARS2 AARS1
2 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
3 muscle contraction GO:0006936 9.26 TPM2 TNNT3 RYR1 MYBPC1
4 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 TRPV4 COL2A1
5 muscle filament sliding GO:0030049 8.92 TPM2 TNNT3 MYH3 MYBPC1

Molecular functions related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.02 TRPV4 TPM2 TNNT3 MYH3 MYBPC1

Sources for Clubfoot

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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