Clubfoot (CTEV)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Clubfoot

MalaCards integrated aliases for Clubfoot:

Name: Clubfoot 12 73 20 29 54 6 44 15
Talipes 20 29 6
Congenital Talipes Equinovarus 12 20
Congenital Clubfoot 12 36
Talipes Equinovarus 20 32
Equinovarus Deformity of Foot 12
Congenital Equinovarus 12
Club Foot 54
Ctev 20


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Disease Ontology 12 DOID:11836
KEGG 36 H00903
ICD9CM 34 754.51
MeSH 44 D003025
NCIt 50 C84641
SNOMED-CT 67 33163000
ICD10 32 Q66.0 Q66.89
UMLS 70 C0009081

Summaries for Clubfoot

GARD : 20 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 : Clubfoot, also known as talipes, is related to ehlers-danlos syndrome, musculocontractural type, 1 and arthrogryposis, distal, type 7. 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 Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are cardiovascular system and integument

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 : 73 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 283)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, musculocontractural type, 1 32.6 CHST3 CHST14
2 arthrogryposis, distal, type 7 32.3 TPM2 TNNT3 MYH3
3 saul-wilson syndrome 32.3 CHST3 CHST14
4 arthrogryposis, distal, type 1a 32.2 TPM2 TNNT3 MYH3 MYBPC1
5 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 32.2 TRPV4 RYR1 PLOD2 PITX1 KIAA1109 KAT6B
6 arthrogryposis, distal, type 5d 32.1 TNNT3 MYH3 MYBPC1
7 genitopatellar syndrome 32.0 KAT6B DUSP29
8 arthrogryposis, distal, type 2b1 32.0 TPM2 TNNT3 MYH3
9 arthrogryposis, distal, type 2a 31.9 TPM2 TNNT3 MYH3 MYBPC1
10 arthrogryposis, distal, type 1b 31.9 TNNT3 MYBPC1
11 spondyloepiphyseal dysplasia with congenital joint dislocations 31.8 TRPV4 SLC26A2 CHST3 CHST14
12 spondylocarpotarsal synostosis syndrome 31.6 TNNT3 SLC26A2 MYH3
13 larsen syndrome 31.6 TBX4 SLC26A2 CHST3 CHST14
14 familial clubfoot with or without associated lower limb anomalies 31.1 TRPV4 RYR1 PLOD2 PITX1 KIAA1109 KAT6B
15 distal arthrogryposis 30.9 TPM2 TNNT3 RYR1 MYH3 MYBPC1 KIAA1109
16 ehlers-danlos syndrome 30.6 PLOD2 COL5A1 CHST14
17 congenital contractures 30.6 TNNT3 RYR1 CHST14
18 congenital fiber-type disproportion 30.4 TPM2 TNNT3 RYR1
19 multiple pterygium syndrome, escobar variant 30.4 TPM2 TNNT3 RYR1 PLOD2 MYH3
20 chromosome 17q23.1-q23.2 deletion syndrome 30.3 TBX4 PITX1
21 autosomal recessive disease 29.9 SLC26A2 PLOD2 MYH3 DARS2
22 scoliosis 29.9 TRPV4 RYR1 PLOD2 PITX1 MYH3 MYBPC1
23 crane-heise syndrome 11.4
24 arthrogryposis, distal, type 3 11.4
25 robin sequence with cleft mandible and limb anomalies 11.3
26 tarp syndrome 11.3
27 al-gazali syndrome 11.3
28 musculocontractural ehlers-danlos syndrome 11.3
29 cyprus facial neuromusculoskeletal syndrome 11.2
30 radial defect robin sequence 11.2
31 popliteal pterygium syndrome 11.1
32 dyssegmental dysplasia, silverman-handmaker type 11.1
33 acromelic frontonasal dysostosis 11.1
34 chromosome 15q26-qter deletion syndrome 11.1
35 epiphyseal dysplasia, multiple, 4 11.1
36 spondyloepimetaphyseal dysplasia, strudwick type 11.1
37 myopathy, congenital, bailey-bloch 11.1
38 chromosome 17q23.1-q23.2 duplication syndrome 11.1
39 stac3 disorder 11.1
40 pseudoainhum 11.1
41 lambert syndrome 11.0
42 atelosteogenesis, type ii 11.0
43 esophageal atresia coloboma talipes 11.0
44 aase-smith syndrome i 10.9
45 diastrophic dysplasia 10.9
46 pseudodiastrophic dysplasia 10.9
47 loeys-dietz syndrome 5 10.9
48 alkuraya-kucinskas syndrome 10.9
49 vertical talus, congenital 10.9
50 brachydactyly, type a4 10.9

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 10.03 AARS1 CC2D2A CHST14 COL5A1 INPP5E KIAA1109
2 integument MP:0010771 9.85 AARS1 CC2D2A CHST14 COL5A1 INPP5E KIAA1109
3 limbs/digits/tail MP:0005371 9.56 CC2D2A CHST14 INPP5E PITX1 RYR1 SLC26A2
4 mortality/aging MP:0010768 9.44 AARS1 CC2D2A CHST14 COL5A1 DARS2 INPP5E

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
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Clonidine Approved Phase 4 4205-90-7 2803
4 abobotulinumtoxinA Phase 4
5 Botulinum Toxins Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Neurotransmitter Agents Phase 4
8 Cholinergic Agents Phase 4
9 incobotulinumtoxinA Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Sodium Channel Blockers Phase 4
12 Anesthetics Phase 4
13 Anesthetics, Local Phase 4
14 Diuretics, Potassium Sparing Phase 4
15 Analgesics Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Antihypertensive Agents Phase 4
18 Adrenergic Agents Phase 4
19 Sympatholytics Phase 4
20 Adrenergic Agonists Phase 4
21 Hemagglutinins Phase 2
22 Pharmaceutical Solutions

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 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
2 Video and Temporal Spatial Parameters Assessment of Gait After Dysport Treatment. A Pilot Study Completed NCT03501043 Phase 4 Dysport
3 A Randomized, Comparison Study of L.M.X.4 Cream Versus J-Tip Needle-Free Injection System With Lidocaine in Children Undergoing In-Office Percutaneous Achilles Tenotomy for Clubfoot Not yet recruiting NCT04766684 Phase 4 L.M.X.4 cream with J-Tip saline injection
4 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
5 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
6 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®
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 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
10 Treatment of Idiopathic Clubfoot Utilizing Botulinum Toxin A: A New Treatment for Correction Unknown status NCT00152334 Botox
11 Natural History and Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneovalgus,a Randomized Controlled Trial Unknown status NCT01767662
12 Rate Of Residual Clubfoot Deformity With Correlation To Absence Of Peroneus Tertius Muscle: A Prospective Study Unknown status NCT03749265
13 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 Unknown status NCT03249805
14 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
15 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
16 Results of Gait Analysis Including Oxford Foot Model in Children With Clubfoot Treated With the Ponseti Method Completed NCT02022267
17 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
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 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot in Newborns and Infants Completed NCT02815306
20 The Pma Mouse and the Developmental Basis of Clubfoot: MRI Anatomical Modelling of Human ICTEV (Clubfoot) Completed NCT01088828
21 Normalization of Forefoot Supination After Tibialis Anterior Tendon Transfer for Dynamic Clubfoot Recurrence Completed NCT03953430
22 Comparison of Two Different Cast Materials for the Treatment of Congenital Idiopathic Clubfoot Using the Ponseti Method: A Prospective Randomized Controlled Trial Completed NCT01067651
23 Measurement of Compliance in Clubfoot Bracing Via a Novel Pressure Sensor Completed NCT01481324
24 Clubfoot DNA Repository Completed NCT00607191
25 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185
26 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Completed NCT02755766
27 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
28 Treatment of Spastic Equinovarus Foot After Stroke. Efficacy: Association Between Ankle Foot Orthosis and Botulinum Toxin A (BTA) Injection Completed NCT00199589 Botulinic toxin (Botox)
29 Study of the Efficacy and Safety of the Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot With ICF Assessment Completed NCT01265238
30 Determination of the Pathophysicologic Collagen Changes in the Diabetic Achilles Tendon. Completed NCT01382628
31 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
32 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
33 Children Born With Club Feet: Ultrasound Diagnosis and Antenatal Assessment Completed NCT03671863
34 Customized Orthosis for Children With Clubfoot Following Ponseti Casting Recruiting NCT03853811
35 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
36 Efficacy of Botox in Patients With Idiopathic Clubfoot Recruiting NCT00474032 Botulinum Toxin (Type A) injection (10 U/Kg)
37 Duration of Brace Wear in Clubfoot Treatment - A Prospective Randomized Trail Active, not recruiting NCT01551264
38 Pronostic Factors of Long Term Outcome in Patients With Clubfoot Treated by the Ponseti Method Active, not recruiting NCT04693065
39 Evaluation of CGH Array in Prenatal Diagnosis of Bilateral Clubfoot Not yet recruiting NCT04737083
40 A Multicenter Study on the Treatment of Recurrent Clubfoot With the Tendon Release of Musculi Tibialis Posterior Not yet recruiting NCT04212663
41 Ankle Equinus Contracture Treated With Dynamic Splinting in a Randomized, Controlled Trial Terminated NCT01238484
42 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
43 Comparison of Ponseti Method Versus Older Treatments in Talipes Equinovarus Through Gait Analysis and Clinical Results Withdrawn NCT03580746
44 Economic Evaluation of Clubfoot Treatment: One Centre's Experience Withdrawn NCT00475631
45 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, Skin, Skeletal Muscle, Brain, Spinal Cord, Kidney, Uterus

Publications for Clubfoot

Articles related to Clubfoot:

(show top 50) (show all 3270)
# Title Authors PMID Year
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 61 6
29290337 2018
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. 6 61
22258522 2012
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. 6 61
18950742 2008
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
Development of a method to produce a valid and reliable foot mask for plantar pressure evaluation in children with clubfoot. 61
32932417 2021
Gross motor skill development is similar in children post Ponseti casting for congenital talipes equinovarus compared to typically developing children: a systematic review. 61
33767125 2021
Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report. 61
33717247 2021
Analysis OF C677T polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene as a risk factor for congenital talipes equino varus (CTEV). 61
33717913 2021
The Ponseti Method for the Treatment of Clubfeet Associated With Amniotic Band Syndrome: A Single Institution 20-Year Experience. 61
33710127 2021
Ponseti Idiopathic and Nonidiopathic Clubfoot Correction With Secondary Surgeries. 61
33789808 2021
Synthetic Cast Material Versus Plaster of Paris for the Treatment of Idiopathic Clubfoot by the Ponseti Protocol: A Comparative Analysis of 136 Feet. 61
33710129 2021
The effectiveness of three-phase physiotherapy program in children with clubfoot after Ponseti treatment. 61
33722486 2021
20 years of functional treatment for clubfoot: advantages and limitations compared with the Ponseti method. 61
33741833 2021
Talectomy for the Management of Resistant Talipes Equinovarus Deformity; Does Adding Ilizarov External Fixator Provide Extra Advantages? 61
33218863 2021
Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report. 61
33750440 2021
Sport Ability during Walking Age in Clubfoot-Affected Children after Ponseti Method: A Case-Series Study. 61
33804306 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. 61
33719213 2021
Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level. 61
33786756 2021
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. 61
33340101 2021
Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial-wide birth defects monitoring system. 61
33372274 2021
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 61
33776626 2021
Quantification of Ankle Dorsiflexion in Ponseti-managed Unilateral Clubfoot Patients During Early Childhood. 61
33264177 2021
The role of social media in clubfoot: information sharing and social support. 61
33643463 2021
Foot abduction increases after achilles tenotomy in clubfoot patients. 61
33610428 2021
Prospective Study of Gross Motor Milestones in Children with Severe Idiopathic Clubfoot Treated by Ponseti Method. 61
33569113 2021
Ilizarov Frame Application Based on Ponseti Principles for Clubfoot Correction: A Case Report and Description of Surgical Technique. 61
33569117 2021
Comprehensive Idiopathic Clubfoot Treatment based on the Ponseti Method: The FMC, Umuahia Experience. 61
33641152 2021
Clubfeet and congenital constriction band syndrome. 61
33593432 2021
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. 61
33547725 2021
Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study. 61
33568363 2021
Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia. 61
33529824 2021
Functional Outcomes of Talectomy in Pediatric Feet. 61
33559504 2021
Syndromic clubfoot beyond arthrogryposis and myelomeningocele: orthopedic treatment with Ponseti method. 61
33642245 2021
Flat Top Talus: Complication of Ponseti Method or Overcorrection? 61
33754113 2021
A Community Audit of 300 "Drop-Out" Instances in Children Undergoing Ponseti Clubfoot Care in Bangladesh-What Do the Parents Say? 61
33498625 2021
New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre. 61
32112473 2021
Does generalized joint hypermobility influence the Ponseti treatment of clubfoot patients? 61
32453119 2021
Using the modified Ponseti method to treat complex clubfoot: Early results. 61
33463433 2021
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 2021
Genetic association and characterization of FSTL5 in isolated clubfoot. 61
33105483 2021
Congenital Talipes Equinovarus: Results of Treatment and Are We Bracing Effectively? 61
33573906 2021
Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. 61
33372835 2021
The reliability and validity of the weight-bearing lunge test in a Congenital Talipes Equinovarus population (CTEV). 61
33505779 2021
Variations in arterial pedal circulation in idiopathic congenital talipes equinovarus: a systematic review. 61
32195760 2021
The Ponseti method of treatment for neuromuscular and syndromic (non-idiopathic) clubfeet: evaluation of a programme-based approach at a mean follow-up of 5.8 years. 61
32651710 2021
Congenital isolated clubfoot: Correlation between prenatal assessment and postnatal degree of severity. 61
32779833 2020
Assessment of severity of clubfoot in walking children by combined multiple tools: A new classification system. 61
33035821 2020
Ponseti method in the treatment of post-operative relapsed idiopathic clubfoot after posteromedial release. A short term functional study. 61
33049428 2020

Variations for Clubfoot

ClinVar genetic disease variations for Clubfoot:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX1 NM_002653.5(PITX1):c.388G>A (p.Glu130Lys) SNV Pathogenic 7505 rs121909109 GRCh37: 5:134366980-134366980
GRCh38: 5:135031290-135031290
2 PITX1 NM_002653.5(PITX1):c.765_799del (p.Ala256fs) Deletion Pathogenic 37253 rs730882191 GRCh37: 5:134364615-134364649
GRCh38: 5:135028925-135028959
3 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic 400 rs121918130 GRCh37: 9:139327634-139327634
GRCh38: 9:136433182-136433182
4 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>A SNV Pathogenic 523401 rs1553827236 GRCh37: 4:15518380-15518380
GRCh38: 4:15516757-15516757
5 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 GRCh37: 4:15589552-15589552
GRCh38: 4:15587929-15587929
6 DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic 1062 rs142433332 GRCh37: 1:173800770-173800770
GRCh38: 1:173831632-173831632
7 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic 30473 rs387906905 GRCh37: 12:110236624-110236624
GRCh38: 12:109798819-109798819
8 DARS2 NM_018122.5(DARS2):c.228-21_228-20delinsC Indel Pathogenic 1057 rs1553201258 GRCh37: 1:173797450-173797451
GRCh38: 1:173828312-173828313
9 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) SNV Pathogenic 12989 rs118192174 GRCh37: 19:38990601-38990601
GRCh38: 19:38499961-38499961
10 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 GRCh37: 10:76789795-76789795
GRCh38: 10:75030037-75030037
11 PITX1 NM_002653.5(PITX1):c.414G>T (p.Lys138Asn) SNV Likely pathogenic 1033526 GRCh37: 5:134365000-134365000
GRCh38: 5:135029310-135029310
12 KIAA1109 NM_001384125.1(KIAA1109):c.3323+1G>A SNV Likely pathogenic 978640 GRCh37: 4:123151367-123151367
GRCh38: 4:122230212-122230212
13 KIAA1109 NM_001384125.1(KIAA1109):c.692del (p.Phe231fs) Deletion Likely pathogenic 978675 GRCh37: 4:123109112-123109112
GRCh38: 4:122187957-122187957
14 PLOD2 NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) SNV Likely pathogenic 374012 rs780770356 GRCh37: 3:145788912-145788912
GRCh38: 3:146071125-146071125
15 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) SNV Likely pathogenic 183349 rs730882245 GRCh37: 4:123128323-123128323
GRCh38: 4:122207168-122207168
16 PLOD2 NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) SNV Likely pathogenic 374011 rs778360818 GRCh37: 3:145797042-145797042
GRCh38: 3:146079255-146079255
17 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs) Deletion Likely pathogenic 374067 rs1057518871 GRCh37: 9:137690256-137690256
GRCh38: 9:134798410-134798410
18 PITX1 NM_002653.5(PITX1):c.683G>T (p.Ser228Ile) SNV Uncertain significance 930834 GRCh37: 5:134364731-134364731
GRCh38: 5:135029041-135029041
19 UNC13C NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) SNV Uncertain significance 982686 GRCh37: 15:54305383-54305383
GRCh38: 15:54013186-54013186
20 AARS1 NM_001605.2(AARS1):c.2054T>C (p.Val685Ala) SNV Uncertain significance 523443 rs1555539904 GRCh37: 16:70292059-70292059
GRCh38: 16:70258156-70258156
21 PKD1 NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) SNV Uncertain significance 523352 rs760873748 GRCh37: 16:2140799-2140799
GRCh38: 16:2090798-2090798
22 PKD1 NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) SNV Uncertain significance 257000 rs376283361 GRCh37: 16:2156459-2156459
GRCh38: 16:2106458-2106458
23 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Uncertain significance 5302 rs34557412 GRCh37: 17:16852187-16852187
GRCh38: 17:16948873-16948873
24 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain significance 167818 rs142594314 GRCh37: 1:116206600-116206600
GRCh38: 1:115663979-115663979

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 9.26 DARS2 AARS1
2 muscle contraction GO:0006936 9.26 TPM2 TNNT3 RYR1 MYBPC1
3 regulation of ATPase activity GO:0043462 9.16 TPM2 TNNT3
4 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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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