MCID: CLB002
MIFTS: 48

Clubfoot malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Clubfoot

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 A club foot or clubfoot, also called congenital talipes equinovarus (CTEV), is a congenital deformity... more...

MalaCards: Clubfoot, also known as congenital talipes equinovarus, is related to talipes equinovarus and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly. An important gene associated with Clubfoot is CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14), and among its related pathways is Transcriptional misregulation in cancer. The compounds gnrh and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related mouse phenotypes are cardiovascular system and limbs/digits/tail.

Description from OMIM:48 119800

Aliases & Classifications for Clubfoot

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9Disease Ontology, 11DISEASES, 46Novoseek, 59SNOMED-CT, 48OMIM, 36MeSH, 63UMLS, 28ICD9CM, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

clubfoot 9 11 46
congenital talipes equinovarus 9
equinovarus deformity of foot 9
congenital equinovarus 9
congenital clubfoot 9
club foot 46


Related Diseases for Clubfoot

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Clubfoot family:

Pitx1-Related Congenital Clubfoot Familial Clubfoot Due to 17q23.1q23.2 Microduplication
Familial Clubfoot Due to 5q31 Microdeletion

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1talipes equinovarus10.5
2clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.4
3adducted thumb and clubfoot syndrome10.3
4myotonic dystrophy type 210.3
5myotonic dystrophy10.3
6kabuki syndrome10.3
7familial clubfoot due to 17q23.1q23.2 microduplication10.2
8pseudohypoaldosteronism type ii10.2
9richieri costa pereira syndrome10.2
10short stature robin sequence cleft mandible hand anomalies clubfoot10.2
11familial clubfoot due to 5q31 microdeletion10.2
12polydactyly10.1
13neuronitis10.1
14multiple epiphyseal dysplasia10.1
15dysostosis10.1
16adducted thumbs dundar type10.1
17phace syndrome10.1
18radial defect robin sequence10.1
19constriction rings syndrome10.1
20cleft palate10.1
21ehlers-danlos syndrome10.1
22metatarsus adductus10.1
23moebius syndrome10.1
24multiple epiphyseal dysplasia 410.1
25myelomeningocele10.1
26tarp syndrome10.1
27pitx1-related congenital clubfoot10.1
28ehlers-danlos syndrome, musculocontractural type 210.1
29radioulnar synostosis10.0HOXA11, TBX4
30osteoporosis10.0TGFBR2, SLC26A2
31pituitary adenoma10.0PITX1, TGFBR2
32spondyloepiphyseal dysplasia with congenital joint dislocations9.9
33osteoarthritis9.9
34situs inversus9.9
35esophageal atresia9.9
36imperforate anus9.9
37larsen syndrome9.9
38friedreich ataxia9.9
39coloboma9.9
40cerebritis9.9
41gastroschisis9.9
42distal arthrogryposis9.9
43spondyloepimetaphyseal dysplasia, strudwick type9.9
44esophagitis9.9
45myopathy9.9
46neuromuscular disease9.9
47oligohydramnios9.9
48spina bifida9.9
49atelosteogenesis type 29.9
50congenital fiber-type disproportion9.9

Graphical network of the top 20 diseases related to Clubfoot:



Diseases related to clubfoot

Symptoms for Clubfoot

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48OMIM
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Clinical features from OMIM:

119800

Drugs & Therapeutics for Clubfoot

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Clubfoot

Drug clinical trials:

Search ClinicalTrials for Clubfoot

Search NIH Clinical Center for Clubfoot

Search CenterWatch for Clubfoot

Genetic Tests for Clubfoot

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Anatomical Context for Clubfoot

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Sources:
34MalaCards
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MalaCards organs/tissues related to Clubfoot:

34
Bone, Skeletal muscle

Animal Models for Clubfoot or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Clubfoot:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7TBX4, CHST14, TGFBR2, PITX1
2MP:00053718.4HOXA11, PITX1, CHST14, TBX4, SLC26A2
3MP:00053848.0HOXA11, TGFBR2, CHST14, TBX4, SLC26A2
4MP:00053827.9HOXD4, PITX1, TGFBR2, CHST14, SLC26A2
5MP:00053787.5HOXD4, PITX1, TGFBR2, CHST14, SLC26A2
6MP:00053907.0SLC26A2, TBX4, CHST14, TGFBR2, PITX1, HOXD4
7MP:00107686.9HOXA11, HOXD4, PITX1, TGFBR2, CHST14, TBX4

Publications for Clubfoot

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53PubMed
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Articles related to Clubfoot:

(show top 50)    (show all 495)
idTitleAuthorsYear
1
Is tibialis anterior tendon transfer effective for recurrent clubfoot? (24061847)
2014
2
Propofol sedation for infants with idiopathic clubfoot undergoing percutaneous tendoachilles tenotomy. (23232381)
2013
3
Descriptive epidemiology of idiopathic clubfoot. (23686911)
2013
4
Low prevalence of osteoarthritis in patients with congenital clubfoot at more than 60 years' follow-up. (23109633)
2012
5
Treatment results of late-relapsing idiopathic clubfoot previously treated with the Ponseti method. (22584843)
2012
6
The influence of brace type on the success rate of the Ponseti treatment protocol for idiopathic clubfoot. (22468155)
2011
7
Application of the Ponseti principle for deformity correction in neglected and relapsed clubfoot using the Ilizarov fixator. (20842065)
2011
8
Long-term results of the posteromedial release in the treatment of idiopathic clubfoot. (20864856)
2010
9
Clubfoot classification: correlation with Ponseti cast treatment. (20864855)
2010
10
Bracing following correction of idiopathic clubfoot using the Ponseti method. (20675641)
2010
11
Plantar pressures following Ponseti and French physiotherapy methods for clubfoot. (20032748)
2010
12
Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study. (19127394)
2009
13
CT study on the effect of different treatment protocols for clubfoot pathology. (19190974)
2009
14
Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. (19487512)
2009
15
Clubfoot: etiology and treatment Ignacio V. Ponseti, MD, 1914-. (19184257)
2009
16
Clubfoot treatment: Ponseti and French functional methods are equally effective. (19242767)
2009
17
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (20004762)
2009
18
Ponseti treatment for idiopathic clubfoot: minimum 5-year followup. (19130158)
2009
19
Evaluation of the utility of the Ponseti method of correction of clubfoot deformity in a developing nation. (17115153)
2008
20
Clubfoot: etiology and treatment. (19823650)
2008
21
Comparison of serial casting and stretching technique in children with congenital idiopathic clubfoot: evaluation of a new assessment system. (18283573)
2008
22
Results of manipulation of idiopathic clubfoot deformity in Malawi by orthopaedic clinical officers using the Ponseti method: a realistic alternative for the developing world? (18209628)
2007
23
Calcaneal derotation osteotomy for clubfoot revision surgery. (17414784)
2007
24
Results of an accelerated Ponseti protocol for clubfoot. (16199943)
2005
25
Radical soft-tissue release of the arthrogrypotic clubfoot. (15703521)
2005
26
Three-dimensional hindfoot motion in adolescents with surgically treated unilateral clubfoot. (16199945)
2005
27
Bleeding complications following percutaneous tendoachilles tenotomy in the treatment of clubfoot deformity. (15205614)
2004
28
Validity of the anteroposterior talocalcaneal angle to assess congenital clubfoot correction. (15100132)
2004
29
The effect of the internet in the treatment of congenital idiopathic clubfoot. (14575256)
2003
30
Anthropometric study of patients treated for clubfoot. (12826950)
2003
31
Joint laxity and the risk of clubfoot. (14632308)
2003
32
The ponseti technique for correction of congenital clubfoot. (12377924)
2002
33
Regional fasciocutaneous flap closure for clubfoot surgery. (11176353)
2001
34
Anterior tibial tendon transfer in residual dynamic clubfoot deformity. (11176351)
2001
35
Ankle and first metatarsophalangeal joint dorsiflexion in children with clubfoot. (11675544)
2001
36
Comparison of the soft-tissue release methods in idiopathic clubfoot. (11008747)
2000
37
Accurate determination of cast weight for neonates with clubfoot. (10739288)
2000
38
Postoperative blood loss into plaster casts after clubfoot surgery: an experimental model. (10218182)
1999
39
Surgical treatment of clubfoot: the significance of talocalcaneonavicular malposition correction. (10709589)
1999
40
Rotation fasciocutaneous flap for neglected clubfoot: a new technique. (9600556)
1998
41
Cases of congenital dislocation of the knee (CDK) not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome can be treated conservatively. (9531418)
1998
42
Long-term results of the operative treatment of clubfoot: a representative study. (9642705)
1998
43
Regional anesthesia for clubfoot surgery in children. (10099069)
1998
44
Muscle and tendon size relationships in a paralyzed chick embryo model of clubfoot. (9600555)
1998
45
An independent assessment of two clubfoot-classification systems. (9600557)
1998
46
A personal revolution in the development of clubfoot correction. (9030444)
1997
47
Management of clubfoot deformity in amyoplasia. (9591987)
1997
48
Controversies in the surgical management of clubfoot. (8727753)
1996
49
Treatment of idiopathic clubfoot. A thirty-year follow-up note. (8876592)
1996
50
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. (6469248)
1984

Variations for Clubfoot

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Expression for genes affiliated with Clubfoot

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Clubfoot

Search GEO for disease gene expression data for Clubfoot.

Pathways for genes affiliated with Clubfoot

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51PathCards, 31KEGG
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Pathways related to Clubfoot according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TGFBR2, HOXA11

Compounds for genes affiliated with Clubfoot

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46Novoseek, 25HMDB
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Compounds related to Clubfoot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gnrh469.5TGFBR2, PITX1
2sulfate46 2510.3SLC26A2, CHST14

GO Terms for genes affiliated with Clubfoot

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17Gene Ontology
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Cellular components related to Clubfoot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6PITX1, HOXA11

Biological processes related to Clubfoot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:0303269.7TBX4, HOXA11
2skeletal system developmentGO:0015019.6PITX1, HOXA11
3cartilage developmentGO:0512169.5PITX1, TGFBR2
4anatomical structure morphogenesisGO:0096539.5PITX1, HOXA11
5glycosaminoglycan metabolic processGO:0302039.3SLC26A2, CHST14
6multicellular organismal developmentGO:0072758.8TBX4, HOXD4, HOXA11

Molecular functions related to Clubfoot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435658.8PITX1, HOXD4, HOXA11
2sequence-specific DNA binding transcription factor activityGO:0037008.0TBX4, PITX1, HOXD4, HOXA11

Products for genes affiliated with Clubfoot

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Clubfoot

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet