Aliases & Classifications for Coxa Vara

MalaCards integrated aliases for Coxa Vara:

Name: Coxa Vara 57 29

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coxa vara:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 122750
MedGen 42 C0239138
SNOMED-CT via HPO 69 263681008 74820003

Summaries for Coxa Vara

MalaCards based summary : Coxa Vara is related to camptodactyly-arthropathy-coxa vara-pericarditis syndrome and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Coxa Vara is PRG4 (Proteoglycan 4), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. Affiliated tissues include bone, and related phenotype is coxa vara.

Wikipedia : 76 Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is... more...

Description from OMIM: 122750

Related Diseases for Coxa Vara

Diseases in the Coxa Vara family:

Coxa Vara, Congenital

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 34.1 VTN TPR PRG4
2 spondyloepimetaphyseal dysplasia, strudwick type 32.8 COL2A1 COL10A1
3 brittle bone disorder 30.2 CRTAP COL2A1
4 coxa vara, congenital 12.3
5 spondylometaphyseal dysplasia, corner fracture type 11.7
6 ischiocoxopodopatellar syndrome 11.6
7 slipped capital femoral epiphysis 11.6
8 epiphyseal dysplasia, microcephaly, and nystagmus 11.6
9 spondyloepimetaphyseal dysplasia, missouri type 11.4
10 cdags syndrome 11.3
11 47,xyy 11.3
12 beukes hip dysplasia 11.3
13 metaphyseal chondrodysplasia, schmid type 11.3
14 rhizomelic dysplasia, patterson-lowry type 11.3
15 osteogenesis imperfecta, type vii 11.3
16 pillay syndrome 11.3
17 arthropathy 10.8
18 pericarditis 10.8
19 arthritis 10.4
20 pseudoarthrosis 10.4
21 cerebral palsy 10.3
22 osteochondritis dissecans 10.3
23 fibrous dysplasia 10.3
24 dysostosis 10.3
25 idiopathic avascular necrosis 10.3
26 achondroplasia 10.1
27 legg-calve-perthes disease 10.1
28 mccune-albright syndrome 10.1
29 neural tube defects 10.1
30 tetralogy of fallot 10.1
31 cataract 10.1
32 hemangioma 10.1
33 osteochondrosis 10.1
34 osteopetrosis 10.1
35 osteomyelitis 10.1
36 osteomalacia 10.1
37 rickets 10.1
38 protein-losing enteropathy 10.1
39 microcephaly 10.1
40 hypoparathyroidism 10.1
41 synostosis 10.1
42 renal osteodystrophy 10.1
43 osteochondrodysplasia 10.1
44 ankylosis 10.1
45 cleidocranial dysplasia spectrum disorder 10.1
46 trichorhinophalangeal syndrome 10.1
47 skeletal dysplasias 10.1
48 depression 10.1
49 epiphysiolysis of the hip 10.1
50 cartilage disease 10.1 COL2A1 COL10A1

Graphical network of the top 20 diseases related to Coxa Vara:



Diseases related to Coxa Vara

Symptoms & Phenotypes for Coxa Vara

Symptoms via clinical synopsis from OMIM:

57
Hips:
isolated coxa vara


Clinical features from OMIM:

122750

Human phenotypes related to Coxa Vara:

32
# Description HPO Frequency HPO Source Accession
1 coxa vara 32 HP:0002812

Drugs & Therapeutics for Coxa Vara

Search Clinical Trials , NIH Clinical Center for Coxa Vara

Genetic Tests for Coxa Vara

Genetic tests related to Coxa Vara:

# Genetic test Affiliating Genes
1 Coxa Vara 29

Anatomical Context for Coxa Vara

MalaCards organs/tissues related to Coxa Vara:

41
Bone

Publications for Coxa Vara

Articles related to Coxa Vara:

(show top 50) (show all 183)
# Title Authors Year
1
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 29397575 )
2018
2
Percutaneous multiplanar subtrochanteric osteotomy with external fixation for developmental coxa vara (preliminary results). ( 27748677 )
2017
3
Trochantoplasty for Total Hip Arthroplasty in Patients With Coxa Vara Deformity. ( 28262457 )
2017
4
Coxa vara in postseptic arthritis of the hip in children. ( 28151779 )
2017
5
Management of Coxa Vara Septica and Pseudoarthrosis of the Femoral Neck: A Case Report. ( 28434011 )
2017
6
Transfixing Kirshner wires for fixation of intertrochanteric valgus osteotomies in management of pediatric coxa vara. ( 28702703 )
2017
7
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. ( 29156476 )
2017
8
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. ( 28291008 )
2017
9
Pathognomonic acetabular cysts in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 27748313 )
2016
10
Long-term Outcomes of Operative and Nonoperative Treatment of Congenital Coxa Vara. ( 27261966 )
2016
11
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 27224999 )
2016
12
Fixation of Intertrochanteric Valgus Osteotomy with T Plate in Treatment of Developmental Coxa Vara. ( 27583115 )
2016
13
Two-Stage Surgical Treatment of Complex Femoral Deformities with Severe Coxa Vara in Polyostotic Fibrous Dysplasia. ( 30237924 )
2016
14
Acute, unstable slipped capital femoral epiphysis with associated congenital coxa vara. ( 26110218 )
2015
15
Osteomalacia and coxa vara. An unusual co-existence for femoral neck stress fracture. ( 26454499 )
2015
16
Two-stage surgical treatment of complex femoral deformities with severe coxa vara in polyostotic fibrous dysplasia. ( 25609438 )
2015
17
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis. ( 26508154 )
2015
18
Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation. ( 25365895 )
2014
19
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome. ( 25297354 )
2014
20
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 26388606 )
2014
21
Axial involvement with facet joint arthropathy and bony ankylosis in a case of camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome. ( 23931850 )
2013
22
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. ( 24083061 )
2013
23
The classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence. 1926. ( 23519926 )
2013
24
Midterm results after subtrochanteric end-to-side valgization osteotomy in severe infantile coxa vara. ( 23653021 )
2013
25
Valgus osteotomy by external fixation for treatment for developmental coxa vara. ( 24081626 )
2013
26
Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 22386609 )
2012
27
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. ( 22678705 )
2012
28
Subtrochanteric valgus osteotomy in developmental coxa vara: A comment. ( 22448073 )
2012
29
Pauwels' osteotomy for surgical correction of infantile coxa vara. ( 22547145 )
2012
30
Coxa vara in conjunction with metaphyseal dysostosis. ( 22747872 )
2012
31
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. ( 21565623 )
2011
32
Valgus intertrochanteric osteotomy for coxa vara of Bucholz-Ogden Types II and III in patients older than 30 years. ( 21331545 )
2011
33
Subtrochanteric valgus osteotomy in developmental coxa vara. ( 21772624 )
2011
34
The reciprocal ledge closing wedge osteotomy for post traumatic coxa vara. ( 21904844 )
2011
35
Juxtaphyseal Intraosseous Hemangioma of Proximal Femur causing Coxa vara and Coxa breva deformity in a growing child. ( 27298838 )
2011
36
Post-traumatic coxa vara in children following screw fixation of the femoral neck. ( 20809743 )
2010
37
Coxa vara with proximal femoral growth arrest as a possible consequence of extracorporeal membrane oxygenation: a case report. ( 19918457 )
2009
38
Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children. ( 18724194 )
2008
39
Acetabular changes in coxa vara. ( 18465187 )
2008
40
Results and complications of a surgical technique for correction of coxa vara in children with osteopenic bones. ( 19034168 )
2008
41
Congenital coxa vara deformity. ( 18046207 )
2007
42
High prevalence of coxa vara in patients with severe osteogenesis imperfecta. ( 16439896 )
2006
43
Coxa vara: a novel measurement technique in skeletal dysplasias. ( 16505708 )
2006
44
Progressive coxa vara by eccentric growth tethering in immature pigs. ( 16751743 )
2006
45
Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 15702367 )
2005
46
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. ( 16037531 )
2005
47
Percutaneous triplanar femoral osteotomy correction for developmental coxa vara: a new technique. ( 15614055 )
2005
48
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. ( 16001436 )
2005
49
Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report. ( 15608409 )
2004
50
Camptodactyly, arthropathy, coxa vara, and pericarditis syndrome among egyptians. ( 12734910 )
2003

Variations for Coxa Vara

Expression for Coxa Vara

Search GEO for disease gene expression data for Coxa Vara.

Pathways for Coxa Vara

GO Terms for Coxa Vara

Cellular components related to Coxa Vara according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 AZU1 COL10A1 COL2A1 MMP13 PRG4 VTN
2 extracellular space GO:0005615 9.73 AZU1 COL10A1 COL2A1 CRTAP MMP13 VTN
3 endoplasmic reticulum lumen GO:0005788 9.54 COL10A1 COL2A1 CRTAP
4 basement membrane GO:0005604 9.43 COL2A1 VTN
5 extrinsic component of membrane GO:0019898 9.4 AZU1 TPR
6 collagen trimer GO:0005581 9.33 COL10A1 COL2A1 MMP13
7 extracellular matrix GO:0031012 9.26 COL10A1 COL2A1 MMP13 VTN
8 collagen-containing extracellular matrix GO:0062023 8.92 COL10A1 COL2A1 PRG4 VTN

Biological processes related to Coxa Vara according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.16 COL2A1 MMP13
2 extracellular matrix organization GO:0030198 9.13 COL10A1 COL2A1 VTN
3 endochondral ossification GO:0001958 8.62 COL2A1 MMP13

Molecular functions related to Coxa Vara according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.32 MMP13 VTN
2 scavenger receptor activity GO:0005044 9.26 PRG4 VTN
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL10A1 COL2A1
4 polysaccharide binding GO:0030247 8.96 PRG4 VTN
5 extracellular matrix structural constituent GO:0005201 8.8 COL10A1 COL2A1 VTN

Sources for Coxa Vara

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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