MCID: CLB002
MIFTS: 43

Clubfoot malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Clubfoot

About this section

Aliases & Descriptions for Clubfoot:

Name: Clubfoot 10 47 12 36
Congenital Talipes Equinovarus 10
Equinovarus Deformity of Foot 10
 
Congenital Equinovarus 10
Congenital Clubfoot 10
Club Foot 47

Classifications:



External Ids:

Disease Ontology10 DOID:11836
ICD1027 Q66.0, Q66.89
ICD9CM29 754.51
MeSH36 D003025
NCIt42 C84641
UMLS65 C0009081

Summaries for Clubfoot

About this section
Disease Ontology:10 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.

MalaCards based summary: Clubfoot, also known as congenital talipes equinovarus, is related to arthrogryposis, distal, type 2b and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly. An important gene associated with Clubfoot is CHST14 (Carbohydrate (Dermatan 4) Sulfotransferase 14), and among its related pathways are dermatan sulfate biosynthesis and Cardiac conduction. Affiliated tissues include bone, lung and liver, and related mouse phenotypes are muscle and limbs/digits/tail.

Wikipedia:68 Club foot or clubfoot, also called congenital talipes equinovarus (CTEV), is a congenital deformity... more...

Related Diseases for Clubfoot

About this section

Diseases in the Clubfoot family:

Pitx1-Related Congenital Clubfoot Familial Clubfoot Due to Pitx1 Point Mutation

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

(show top 50)    (show all 388)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b30.0MYBPC1, MYH3, TNNT3, TPM2
2clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly12.5
3familial clubfoot due to 17q23.1q23.2 microduplication12.3
4familial clubfoot due to pitx1 point mutation12.3
5familial clubfoot due to 5q31 microdeletion12.3
6short stature robin sequence cleft mandible hand anomalies clubfoot12.2
7pitx1-related congenital clubfoot12.2
8familial clubfoot with or without associated lower limb anomalies12.2
9ehlers-danlos syndrome, musculocontractural type11.8
10tarp syndrome11.7
11pseudohypoaldosteronism, type iie11.6
12epiphyseal dysplasia, multiple, 411.6
13talipes equinovarus11.6
14robin sequence with cleft mandible and limb anomalies11.5
15arthrogryposis, distal, type 311.5
16ehlers-danlos syndrome, musculocontractural type 111.2
17lambert syndrome11.2
18arthrogryposis multiplex congenita, distal, type 110.4
19spondyloepiphyseal dysplasia with congenital joint dislocations10.4
20arthrogryposis, distal, type 5d10.3
21diastrophic dysplasia10.3
22atelosteogenesis ii10.3
23smed strudwick type10.3
24loeys-dietz syndrome 510.3
25chromosome 17q23.1-q23.2 duplication syndrome10.3PITX1, TBX4
26prostatitis10.3
27pancreatitis10.3
28endotheliitis10.3
29aneurysm10.3
30breast cancer10.2
31leukemia10.2
32congenital disorder of glycosylation, type iid10.2MYH3, TPM2
33cerebritis10.2
34vertical talus, congenital10.2
35spondylocarpotarsal synostosis syndrome10.2
36larsen syndrome10.2
37bruck syndrome 210.2
38orofaciodigital syndrome iv10.2
39spondyloperipheral dysplasia10.2
40arthrogryposis, distal, type 1b10.2
41moebius syndrome10.2
42epileptic encephalopathy, early infantile, 2910.2
43melanoma10.2
44neuronitis10.2
45hypertensive heart disease10.2ECEL1, TNNT3
46congenital craniosynostosis maternal hyperthyroiditis10.1CHST14, TNNT3
47prostate cancer10.1
48sarcoma10.1
49aortic aneurysm10.1
50pneumonia10.1

Graphical network of the top 20 diseases related to Clubfoot:



Diseases related to clubfoot

Symptoms for Clubfoot

About this section

Drugs & Therapeutics for Clubfoot

About this section

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AbobotulinumtoxinAPhase 4, Phase 3, Phase 2588
2IncobotulinumtoxinAPhase 4, Phase 3, Phase 2599
3OnabotulinumtoxinAPhase 4, Phase 3, Phase 2588
4Botulinum Toxins, Type APhase 4, Phase 3, Phase 2588
5
AcetylcholineexperimentalPhase 3, Phase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
6Neurotransmitter AgentsPhase 3, Phase 214795
7Peripheral Nervous System AgentsPhase 3, Phase 218510
8Neuromuscular AgentsPhase 3, Phase 2922
9Cholinergic AgentsPhase 3, Phase 23243
10Botulinum ToxinsPhase 3, Phase 2616
11AnestheticsPhase 37385
12Pharmaceutical SolutionsPhase 27004
13HemagglutininsPhase 2111
14Analgesics9358
15AstragalusNutraceutical48

Interventional clinical trials:

(show all 33)
idNameStatusNCT IDPhase
1Post Marketing Surveillance Study of DysportCompletedNCT00210431Phase 4
2Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic PatientsCompletedNCT00825097Phase 3
3Study of GSK1358820 In Patients With Post-Stroke Lower Limb SpasticityCompletedNCT00460655Phase 3
4Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral PalsyRecruitingNCT02188277Phase 2
5Exploring the Causes of Clubfoot Using Magnetic Resonance Imaging, MRICompletedNCT01088828
6Gait Analysis in Ponseti ClubfootCompletedNCT02022267
7Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot)CompletedNCT00474344
8Comparison of Casting Materials for the Treatment of Clubfoot Using the Ponseti MethodCompletedNCT01067651
9Outcomes of Compliance With Brace Wear in ClubfootCompletedNCT01481324
10A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot InfantsCompletedNCT02395185
11Treatment of Spastic Equinovarus Foot After StrokeCompletedNCT00199589
12Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus FootCompletedNCT01265238
13Impairments of Oral Language in Mobius SyndromeCompletedNCT00856531
14Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and ClubfeetRecruitingNCT02755766
15Clubfoot DNA RepositoryRecruitingNCT00607191
16Using Botox to Treat Patients With Idiopathic ClubfootRecruitingNCT00474032
17Pedobarographic Assessments of Clubfoot Treated PatientsRecruitingNCT00175708
18Prospective Evaluation of Treatment for ClubfootRecruitingNCT02257229
19Effectiveness of Parents' Manipulation in Newborn With Talipes CalcaneusRecruitingNCT01767662
20Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar PressureRecruitingNCT02233140
21Extramembranous and Interosseous Technique of Tibialis Posterior Tendon TransferRecruitingNCT01751503
22Duration of Brace Wear in Clubfoot Treatment - A Prospective Randomized TrialActive, not recruitingNCT01551264
23Efficacy of Botox in Patients With Idiopathic ClubfootActive, not recruitingNCT00152334
24A Double-Blind, Randomized Control Trial Comparing Botulinum Toxin Type A (Botox) and Placebo in the Treatment of Idiopathic ClubfootActive, not recruitingNCT00152347
25Osteopathic Approach Into Neonatology Ward: the NE-O ModelAvailableNCT01902563
26Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903
27Sucrose Analgesia in Infants Undergoing Casting for Club FootNot yet recruitingNCT01050088
28Safety and Efficacy of the Universal Neonatal Foot Orthosis in the Treatment of Metatarsus Adductus (MTA)Not yet recruitingNCT01600183
29Determination of the Pathophysicologic Collagen Changes in the Diabetic Achilles TendonSuspendedNCT01382628
30Ankle Equinus Contracture Treated With Dynamic SplintingTerminatedNCT01238484
31The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Pilon FracturesTerminatedNCT02051933
32Economic Evaluation of Clubfoot Treatment: One Centre's ExperienceWithdrawnNCT00475631
33Instep Plantar Fasciotomy With and Without Gastrocnemius RecessionWithdrawnNCT02287714

Search NIH Clinical Center for Clubfoot


Cochrane evidence based reviews: clubfoot

Genetic Tests for Clubfoot

About this section

Anatomical Context for Clubfoot

About this section

MalaCards organs/tissues related to Clubfoot:

33
Bone, Lung, Liver, Prostate, Brain, Endothelial, Breast

Animal Models for Clubfoot or affiliated genes

About this section

MGI Mouse Phenotypes related to Clubfoot:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ECEL1, HOXD10, HOXD13, PITX1, TNNT3
2MP:00053718.4CHST14, HOXD10, HOXD13, PITX1, SLC26A2, TBX4
3MP:00053907.1CHST14, CHST3, ECEL1, HOXD10, HOXD13, PITX1

Publications for Clubfoot

About this section

Articles related to Clubfoot:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
Implication of different clinical and pathological variables in patients with differentiated thyroid cancer on successful ablation for 3700A MBq (131)I: a single Egyptian institutional experience over 14A years. (27194041)
2016
2
Safety of paediatric day-stay laryngeal surgery for recurrent respiratory papillomatosis. (26857327)
2016
3
Hepatocyte growth factor activator inhibitor-1 is induced by bone morphogenetic proteins and regulates proliferation and cell fate of neural progenitor cells. (23409135)
2013
4
Management of intussusception in resource-limited settings. (23994003)
2013
5
Effectiveness of percutaneous closure of patent foramen ovale for hypoxemia. (23871675)
2013
6
A case of IgA nephropathy associated with mycosis fungoides that developed into rapidly progressive glomerulonephritis. (23364207)
2013
7
An external validation study of a classification of mixed connective tissue disease and systemic lupus erythematosus patients. (22805362)
2012
8
Aberrant expression levels of MTA1 and RECK in nasopharyngeal carcinoma: association with metastasis, recurrence, and prognosis. (22844865)
2012
9
Plasminogen activator inhibitor type 1 interacts with alpha3 subunit of proteasome and modulates its activity. (21135093)
2011
10
Incidence of alcoholism in the revisited Lundby population, 1947-1997. (20553657)
2010
11
Ovulation and pregnancy outcomes in response to human chorionic gonadotropin before resynchronized ovulation in dairy cattle. (19962184)
2010
12
Clubfoot treatment: Ponseti and French functional methods are equally effective. (19242767)
2009
13
Hepatitis C virus receptor expression in normal and diseased liver tissue. (18085708)
2008
14
Angiotensinogen gene polymorphism predicts hypertension, and iridological constitutional classification enhances the risk for hypertension in Koreans. (18446580)
2008
15
Chemotherapeutic drugs induce PPAR-gamma expression and show sequence-specific synergy with PPAR-gamma ligands in inhibition of non-small cell lung cancer. (18516296)
2008
16
Pilot study of interpersonal psychotherapy versus supportive psychotherapy for dysthymic patients with secondary alcohol abuse or dependence. (18552624)
2008
17
Antagonistic effect of EGF on FAK phosphorylation/dephosphorylation in a cell. (18543351)
2008
18
Risk factors for emotional and relationship problems in Peyronie's disease. (18638001)
2008
19
Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. (17238150)
2007
20
Primary benign schwannoma of the left ventricle coursing under the left anterior descending artery. (18001365)
2007
21
Determination of iodine in human milk and infant formulas. (18039487)
2007
22
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. (16826526)
2006
23
Elevated gene expression of MMP-1, MMP-10, and TIMP-1 reveal changes of molecules involved in turn-over of extracellular matrix in cyclosporine-induced gingival overgrowth. (16670920)
2006
24
Stillbirth and slow metabolizers of caffeine: comparison by genotypes. (16782969)
2006
25
Analysis of the differences in the expression of HSP27 and c-kit between benign prostatic hyperplasia and prostatic cancer tissues]. (16755871)
2006
26
Role of drug efflux carriers in the healthy and diseased brain. (17048260)
2006
27
C4d-positive renal transplants: single-center clinical outcomes. (18365397)
2006
28
Shedding of PECAM-1 during HIV infection: a potential role for soluble PECAM-1 in the pathogenesis of NeuroAIDS. (16507710)
2006
29
Epidermal growth factor, neurotrophins and the metastatic cascade in prostate cancer. (15280008)
2004
30
Differential ability of cytostatics from anthraquinone group to generate free radicals in three enzymatic systems: NADH dehydrogenase, NADPH cytochrome P450 reductase, and xanthine oxidase. (12688675)
2003
31
The Ontario Uterine Fibroid Embolization Trial. Part 1. Baseline patient characteristics, fibroid burden, and impact on life. (12524073)
2003
32
The human Imp3 and Imp4 proteins form a ternary complex with hMpp10, which only interacts with the U3 snoRNA in 60-80S ribonucleoprotein complexes. (12655004)
2003
33
Past-A, a novel proton-associated sugar transporter, regulates glucose homeostasis in the brain. (12417639)
2002
34
Effect of digoxin on atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP) and cyclic 3', 5'-guanosine monophosphate (cGMP) in patients with chronic congestive heart failure]. (11865578)
2001
35
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. (10534505)
1999
36
Soluble plasma thrombomodulin levels in patients with chronic myeloproliferative disorder. (10725982)
1999
37
CD69 surface expression on human lung eosinophils after segmental allergen provocation. (10445598)
1999
38
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
39
Isolation of peptides homologous to domains of human alpha 1B-glycoprotein from a mongoose antihemorrhagic factor. (7597727)
1995
40
Structural and functional analysis of the human phosphoenolpyruvate carboxykinase gene promoter. (8547315)
1995
41
Rab4 is phosphorylated by the insulin-activated extracellular-signal-regulated kinase ERK1. (8112321)
1994
42
Activation of globin gene expression by cDNAs from induced K562 cells. Evidence for involvement of ferritin in globin gene expression. (1840594)
1991
43
Purification and partial characterization of rat factor D. (1953671)
1991
44
Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase]. (1914322)
1991
45
Lingual and gastric lipases. (2134569)
1990
46
Thalidomide treatment of prurigo nodularis. (6208720)
1984
47
48
49
50

Variations for Clubfoot

About this section

Expression for genes affiliated with Clubfoot

About this section
Search GEO for disease gene expression data for Clubfoot.

GO Terms for genes affiliated with Clubfoot

About this section

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:00030099.8MYH3, TNNT3
2embryonic limb morphogenesisGO:00303269.7HOXD10, TBX4

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.3PITX1, ZNF664
2actin bindingGO:00037799.2MYBPC1, TNNT3, TPM2

Sources for Clubfoot

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet