CCF
MCID: CLB019
MIFTS: 40

Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly (CCF)

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

Aliases & Classifications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

MalaCards integrated aliases for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

Name: Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 58 76 13 41
Ccf 58 76
Hereditary Clubfoot Due to Pitx1 Point Mutation 60
Familial Clubfoot Due to Pitx1 Point Mutation 60
Hereditary Clubfoot Due to 5q31 Microdeletion 60
Familial Clubfoot Due to 5q31 Microdeletion 60
Talipes Equinovarus 76
Tev 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
clubfoot is bilateral in most patients


HPO:

33
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 119800
MeSH 45 D003025
ICD10 via Orphanet 35 Q66.8
MedGen 43 C0009081

Summaries for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

UniProtKB/Swiss-Prot : 76 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.

MalaCards based summary : Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly, also known as ccf, is related to talipes equinovarus and tarp syndrome. An important gene associated with Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly is PITX1 (Paired Like Homeodomain 1). Affiliated tissues include bone, breast and brain, and related phenotypes are foot polydactyly and patellar hypoplasia

OMIM : 58 Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012). (119800)

Related Diseases for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Graphical network of the top 20 diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:



Diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Symptoms & Phenotypes for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Human phenotypes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

33
# Description HPO Frequency HPO Source Accession
1 foot polydactyly 33 occasional (7.5%) HP:0001829
2 patellar hypoplasia 33 occasional (7.5%) HP:0003065
3 talipes equinovarus 33 HP:0001762

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
tibial hemimelia (in some patients)
patellar hypoplasia, bilateral (in some patients)
no anomalies of upper limbs

Skeletal Feet:
talipes equinovarus (clubfoot)
oblique talus (in some patients)
preaxial mirror-image polydactyly (in some patients)

Clinical features from OMIM:

119800

MGI Mouse Phenotypes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 CC2D2A INPP5E PITX1 RYR1
2 mortality/aging MP:0010768 9.5 CC2D2A DARS2 INPP5E KIAA1109 PITX1 RYR1
3 limbs/digits/tail MP:0005371 9.46 CC2D2A INPP5E PITX1 RYR1
4 renal/urinary system MP:0005367 8.92 CC2D2A INPP5E TNFRSF13B TRPV4

Drugs & Therapeutics for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Search Clinical Trials , NIH Clinical Center for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Genetic Tests for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Anatomical Context for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

MalaCards organs/tissues related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

42
Bone, Breast, Brain, Testes

Publications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Articles related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

(show top 50) (show all 296)
# Title Authors Year
1
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30697014 )
2019
2
Experience of treating the Talipes equinovarus deformity with Ponsetti technique at district level. ( 30736648 )
2019
3
The Validity of Patient-Reported Outcome Measurement Information System (PROMIS) Parent Proxy Instruments to Assess Function in Children With Talipes Equinovarus. ( 30913133 )
2019
4
Carotid-cavernous fistula(CCF) presenting as paroxysmal painful ophthalmoplegia. ( 30744702 )
2019
5
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
6
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
7
Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients. ( 29642612 )
2018
8
Radiological assessment of congenital talipes equinovarus (clubfoot): Is it worthwhile? ( 30336403 )
2018
9
The etiology of idiopathic congenital talipes equinovarus: a systematic review. ( 30134936 )
2018
10
Preoperative circulating FPR and CCF score are promising biomarkers for predicting clinical outcome of stage II-III colorectal cancer patients. ( 30050325 )
2018
11
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
12
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
13
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
14
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
15
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
16
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
17
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2017
18
Combined direct and indirect traumatic carotid-cavernous fistula (CCF): Case report and review of the literature. ( 28712734 )
2017
19
Primary intraventricular haemorrhage due to rupture of giant varix of the basal vein of Rosenthal in a patient with long-standing direct CCF: angiographic features and treatment considerations. ( 29146727 )
2017
20
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
21
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
22
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
23
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
24
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
25
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
26
A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30A years. ( 27386344 )
2016
27
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
28
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
29
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
30
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
31
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
32
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2015
33
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
34
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
35
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
36
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
37
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
38
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
39
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
40
A Four-year Review of Delayed Initial Treatment of Patients with Congenital Talipes equinovarus in a General Hospital. ( 28435588 )
2015
41
A highly diverse spectrum of naphthoquinone derivatives produced by the endophytic fungus Biatriospora sp. CCF 4378. ( 25416512 )
2015
42
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
43
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
44
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
45
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
46
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
47
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
48
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2014
49
ABORL-CCF and disease prevention campaigns. ( 25183174 )
2014
50
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013

Variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

UniProtKB/Swiss-Prot genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

76
# Symbol AA change Variation ID SNP ID
1 PITX1 p.Glu130Lys VAR_058113 rs121909109

ClinVar genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh37 Chromosome 1, 116206600: 116206600
2 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh38 Chromosome 1, 115663979: 115663979
3 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
4 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
5 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
6 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
7 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh37 Chromosome 1, 173797450: 173797451
8 DARS2 NM_018122.5(DARS2): c.228-21_228-20delTTinsC indel Pathogenic rs1553201258 GRCh38 Chromosome 1, 173828312: 173828313
9 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh37 Chromosome 1, 173800770: 173800770
10 DARS2 NM_018122.5(DARS2): c.492+2T> C single nucleotide variant Pathogenic rs142433332 GRCh38 Chromosome 1, 173831632: 173831632
11 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
12 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
13 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980
14 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh38 Chromosome 5, 135031290: 135031290
15 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
16 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh38 Chromosome 19, 38499961: 38499961
17 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
18 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
19 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
20 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh37 Chromosome 5, 134364615: 134364649
21 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
22 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
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;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
26 complex Uncertain significance
27 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
28 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
29 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
30 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042
31 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
32 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
33 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 GRCh37 Chromosome 4, 15518380: 15518380
34 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 GRCh38 Chromosome 4, 15516757: 15516757
35 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic rs1554846212 GRCh38 Chromosome 10, 75030037: 75030037
36 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic rs1554846212 GRCh37 Chromosome 10, 76789795: 76789795
37 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh38 Chromosome 16, 2090798: 2090798
38 PKD1 NM_000296.3(PKD1): c.12011A> G (p.Gln4004Arg) single nucleotide variant Uncertain significance rs760873748 GRCh37 Chromosome 16, 2140799: 2140799
39 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance rs1555539904 GRCh38 Chromosome 16, 70258156: 70258156
40 AARS NM_001605.2(AARS): c.2054T> C (p.Val685Ala) single nucleotide variant Uncertain significance rs1555539904 GRCh37 Chromosome 16, 70292059: 70292059

Expression for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Search GEO for disease gene expression data for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly.

Pathways for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

GO Terms for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Cellular components related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.8 CC2D2A INPP5E TRPV4

Biological processes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 8.62 RYR1 TRPV4

Molecular functions related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.62 RYR1 TRPV4

Sources for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

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