Aliases & Classifications for Coxa Vara

MalaCards integrated aliases for Coxa Vara:

Name: Coxa Vara 58 30 17

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coxa vara:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 122750
MedGen 43 C0239138
SNOMED-CT via HPO 70 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 : 77 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 65)
# Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 33.9 PRG4 TPR VTN
2 spondyloepimetaphyseal dysplasia, strudwick type 32.9 COL10A1 COL2A1
3 brittle bone disorder 30.2 COL2A1 CRTAP
4 coxa vara, congenital 12.4
5 spondylometaphyseal dysplasia, corner fracture type 11.8
6 ischiocoxopodopatellar syndrome 11.7
7 slipped capital femoral epiphysis 11.6
8 epiphyseal dysplasia, microcephaly, and nystagmus 11.6
9 spondyloepimetaphyseal dysplasia, missouri type 11.5
10 cdags syndrome 11.4
11 47,xyy 11.4
12 beukes hip dysplasia 11.3
13 metaphyseal chondrodysplasia, schmid type 11.3
14 spondyloepimetaphyseal dysplasia, sponastrime type 11.3
15 rhizomelic dysplasia, patterson-lowry type 11.3
16 osteogenesis imperfecta, type vii 11.3
17 pillay syndrome 11.3
18 joint disorders 10.8
19 arthropathy 10.8
20 pericarditis 10.8
21 arthritis 10.5
22 pseudoarthrosis 10.5
23 legg-calve-perthes disease 10.4
24 mccune-albright syndrome 10.3
25 cystic fibrosis 10.3
26 cerebral palsy 10.3
27 osteochondritis dissecans 10.3
28 osteochondrosis 10.3
29 fibrous dysplasia 10.3
30 dysostosis 10.3
31 juvenile rheumatoid arthritis 10.3
32 epiphysiolysis of the hip 10.3
33 idiopathic avascular necrosis 10.3
34 achondroplasia 10.2
35 cleidocranial dysplasia 10.2
36 neural tube defects 10.2
37 odontochondrodysplasia 10.2
38 tetralogy of fallot 10.2
39 cataract 10.2
40 hemangioma 10.2
41 osteopetrosis 10.2
42 osteomyelitis 10.2
43 osteomalacia 10.2
44 rickets 10.2
45 protein-losing enteropathy 10.2
46 hypoparathyroidism 10.2
47 synostosis 10.2
48 renal osteodystrophy 10.2
49 ankylosis 10.2
50 microcephaly 10.2

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



Diseases related to Coxa Vara

Symptoms & Phenotypes for Coxa Vara

Human phenotypes related to Coxa Vara:

33
# Description HPO Frequency HPO Source Accession
1 coxa vara 33 HP:0002812

Symptoms via clinical synopsis from OMIM:

58
Hips:
isolated coxa vara

Clinical features from OMIM:

122750

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 30

Anatomical Context for Coxa Vara

MalaCards organs/tissues related to Coxa Vara:

42
Bone

Publications for Coxa Vara

Articles related to Coxa Vara:

(show top 50) (show all 184)
# Title Authors Year
1
Surgical correction of coxa vara: Evaluation of neck shaft angle, Hilgenreiner-epiphyseal angle for indication of recurrence. ( 31061596 )
2019
2
Long-term Outcomes of Operative and Nonoperative Treatment of Congenital Coxa Vara. ( 27261966 )
2018
3
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 29397575 )
2018
4
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. ( 29156476 )
2018
5
Percutaneous multiplanar subtrochanteric osteotomy with external fixation for developmental coxa vara (preliminary results). ( 27748677 )
2017
6
Coxa vara in postseptic arthritis of the hip in children. ( 28151779 )
2017
7
Trochantoplasty for Total Hip Arthroplasty in Patients With Coxa Vara Deformity. ( 28262457 )
2017
8
Management of Coxa Vara Septica and Pseudoarthrosis of the Femoral Neck: A Case Report. ( 28434011 )
2017
9
Transfixing Kirshner wires for fixation of intertrochanteric valgus osteotomies in management of pediatric coxa vara. ( 28702703 )
2017
10
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. ( 28291008 )
2017
11
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 27224999 )
2016
12
Pathognomonic acetabular cysts in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 27748313 )
2016
13
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis. ( 26508154 )
2016
14
Fixation of Intertrochanteric Valgus Osteotomy with T Plate in Treatment of Developmental Coxa Vara. ( 27583115 )
2016
15
Two-Stage Surgical Treatment of Complex Femoral Deformities with Severe Coxa Vara in Polyostotic Fibrous Dysplasia. ( 30237924 )
2016
16
Two-stage surgical treatment of complex femoral deformities with severe coxa vara in polyostotic fibrous dysplasia. ( 25609438 )
2015
17
Acute, unstable slipped capital femoral epiphysis with associated congenital coxa vara. ( 26110218 )
2015
18
Osteomalacia and coxa vara. An unusual co-existence for femoral neck stress fracture. ( 26454499 )
2015
19
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 25297354 )
2014
20
Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation. ( 25365895 )
2014
21
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ( 26388606 )
2014
22
Axial involvement with facet joint arthropathy and bony ankylosis in a case of camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome. ( 23931850 )
2013
23
Valgus osteotomy by external fixation for treatment for developmental coxa vara. ( 24081626 )
2013
24
Midterm results after subtrochanteric end-to-side valgization osteotomy in severe infantile coxa vara. ( 23653021 )
2013
25
The classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence. 1926. ( 23519926 )
2013
26
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. ( 24083061 )
2013
27
Coxa vara in conjunction with metaphyseal dysostosis. ( 22747872 )
2012
28
Pauwels' osteotomy for surgical correction of infantile coxa vara. ( 22547145 )
2012
29
Subtrochanteric valgus osteotomy in developmental coxa vara: A comment. ( 22448073 )
2012
30
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
31
Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 22386609 )
2012
32
Juxtaphyseal Intraosseous Hemangioma of Proximal Femur causing Coxa vara and Coxa breva deformity in a growing child. ( 27298838 )
2011
33
The reciprocal ledge closing wedge osteotomy for post traumatic coxa vara. ( 21904844 )
2011
34
Subtrochanteric valgus osteotomy in developmental coxa vara. ( 21772624 )
2011
35
Valgus intertrochanteric osteotomy for coxa vara of Bucholz-Ogden Types II and III in patients older than 30 years. ( 21331545 )
2011
36
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. ( 21565623 )
2011
37
Post-traumatic coxa vara in children following screw fixation of the femoral neck. ( 20809743 )
2010
38
Coxa vara with proximal femoral growth arrest as a possible consequence of extracorporeal membrane oxygenation: a case report. ( 19918457 )
2009
39
Results and complications of a surgical technique for correction of coxa vara in children with osteopenic bones. ( 19034168 )
2008
40
Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children. ( 18724194 )
2008
41
Acetabular changes in coxa vara. ( 18465187 )
2008
42
Congenital coxa vara deformity. ( 18046207 )
2007
43
Progressive coxa vara by eccentric growth tethering in immature pigs. ( 16751743 )
2006
44
Coxa vara: a novel measurement technique in skeletal dysplasias. ( 16505708 )
2006
45
High prevalence of coxa vara in patients with severe osteogenesis imperfecta. ( 16439896 )
2006
46
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. ( 16001436 )
2005
47
Percutaneous triplanar femoral osteotomy correction for developmental coxa vara: a new technique. ( 15614055 )
2005
48
Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 15702367 )
2005
49
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. ( 16037531 )
2005
50
Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report. ( 15608409 )
2004

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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