Aliases & Classifications for Coxa Vara

MalaCards integrated aliases for Coxa Vara:

Name: Coxa Vara 57 29 17

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coxa vara:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 122750
MedGen 42 C0239138

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, kidney and pituitary, and related phenotype is coxa vara.

Wikipedia : 75 Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is... more...

More information 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 84)
# Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 33.7 VTN TPR PRG4
2 spondyloepimetaphyseal dysplasia, strudwick type 33.4 COL2A1 COL10A1
3 spondyloepiphyseal dysplasia congenita 32.3 MMP13 COL2A1 COL10A1
4 brittle bone disorder 30.7 CRTAP COL2A1
5 pyle disease 30.6 COL2A1 COL10A1
6 bone disease 30.2 MMP13 COL2A1 COL10A1
7 synovitis 29.8 PRG4 MMP13
8 coxa vara, congenital 12.6
9 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 12.1
10 spondylometaphyseal dysplasia, corner fracture type 11.9
11 slipped capital femoral epiphysis 11.8
12 metaphyseal chondrodysplasia, schmid type 11.7
13 epiphyseal dysplasia, microcephaly, and nystagmus 11.7
14 rhizomelic dysplasia, patterson-lowry type 11.7
15 spondyloepimetaphyseal dysplasia, sponastrime type 11.6
16 spondyloepimetaphyseal dysplasia, missouri type 11.6
17 cdags syndrome 11.5
18 47,xyy 11.5
19 beukes hip dysplasia 11.4
20 spondyloepiphyseal dysplasia tarda, x-linked 11.4
21 osteogenesis imperfecta, type vii 11.4
22 pillay syndrome 11.4
23 pericarditis 10.9
24 arthropathy 10.9
25 legg-calve-perthes disease 10.7
26 avascular necrosis 10.7
27 juvenile rheumatoid arthritis 10.6
28 autosomal recessive disease 10.5
29 fibrous dysplasia 10.5
30 dysostosis 10.5
31 col1a1/2-related osteogenesis imperfecta 10.5
32 overgrowth syndrome 10.5
33 cleidocranial dysplasia 10.5
34 spondyloepiphyseal dysplasia with congenital joint dislocations 10.5
35 rickets 10.5
36 hemopericardium 10.5
37 pericardial effusion 10.5
38 multiple epiphyseal dysplasia 10.5
39 cerebral palsy 10.5
40 osteochondrosis 10.5
41 osteochondritis dissecans 10.5
42 skeletal dysplasias 10.5
43 odontochondrodysplasia 10.4
44 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.4
45 scoliosis 10.4
46 osteomyelitis 10.4
47 osteomalacia 10.4
48 osteopetrosis 10.4
49 septic arthritis 10.4
50 arthritis 10.4

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:

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

Symptoms via clinical synopsis from OMIM:

57
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 29

Anatomical Context for Coxa Vara

MalaCards organs/tissues related to Coxa Vara:

41
Bone, Kidney, Pituitary

Publications for Coxa Vara

Articles related to Coxa Vara:

(show top 50) (show all 681)
# Title Authors PMID Year
1
Hereditary congenital coxa vara with dominant inheritance? 38 8
5101666 1971
2
Familial infantile coxa vara. 38 8
13332001 1956
3
The Community Orthopaedic Surgeon Taking Trauma Call: Pediatric Femoral Neck Fracture Pearls and Pitfalls. 38
31290842 2019
4
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. 38
31169747 2019
5
[Effectiveness of proximal femoral nail antirotation assisted by mesh locator for intertrochanteric fracture in the elderly]. 38
31197990 2019
6
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. 38
31191206 2019
7
Surgical correction of coxa vara: Evaluation of neck shaft angle, Hilgenreiner-epiphyseal angle for indication of recurrence. 38
31061596 2019
8
The 'critical trochanter angle': a predictor for stem alignment in total hip arthroplasty. 38
31146787 2019
9
Damage control orthopedics applied in an 8-year-old child with life-threatening multiple injuries: A CARE-compliant case report. 38
31008978 2019
10
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". 38
30599297 2019
11
Incidence, risk factors and prognosis of transient pseudosubluxation after total hip arthroplasty. 38
29739249 2019
12
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 38
30773277 2019
13
The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study. 38
30608389 2019
14
Temporary epiphysiodesis using the FlexTack™ implant (tension band) featuring a modified explantation technique. 38
29907912 2018
15
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 38
30063090 2018
16
Femoral Neck Fractures in Children: A Review. 38
30237607 2018
17
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. 38
29156476 2018
18
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. 38
30027601 2018
19
PFNA vs. DHS helical blade for elderly patients with osteoporotic femoral intertrochanteric fractures. 38
30004570 2018
20
Pediatric proximal femur fractures. 38
29681707 2018
21
Management of Pediatric Femoral Neck Fracture. 38
29781820 2018
22
Long-term Outcomes of Operative and Nonoperative Treatment of Congenital Coxa Vara. 38
27261966 2018
23
Management of femoral neck fractures in children: Experience of a short series in a developing country. 38
31290477 2018
24
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. 38
29397575 2018
25
Locking plate and fibular strut-graft augmentation in the reconstruction of unicameral bone cyst of proximal femur in the paediatric population. 38
28963665 2018
26
Technical particularities of joint preserving hip surgery in osteopetrosis. 38
29250335 2017
27
Transfixing Kirshner wires for fixation of intertrochanteric valgus osteotomies in management of pediatric coxa vara. 38
28702703 2017
28
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 38
29100092 2017
29
Evaluation of outcome of proximal femur locking compression plate (PFLCP) in unstable proximal femur fractures. 38
29062210 2017
30
DHS osteosynthesis with internal bone grafting in unstable delayed presented intracapsular neck femur fractures. 38
28802420 2017
31
A Modified Technique of Fixation for Proximal Femoral Valgus Osteotomy in Abnormal Bone: A Report of Two Cases. 38
29021887 2017
32
Percutaneous multiplanar subtrochanteric osteotomy with external fixation for developmental coxa vara (preliminary results). 38
27748677 2017
33
Trochantoplasty for Total Hip Arthroplasty in Patients With Coxa Vara Deformity. 38
28262457 2017
34
Coxa vara in postseptic arthritis of the hip in children. 38
28151779 2017
35
Bilateral femoral neck fractures associated with complex pelvic ring injuries in a pediatric patient: a case report. 38
27509482 2017
36
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect. 38
28323974 2017
37
Friction-Induced Mitochondrial Dysregulation Contributes to Joint Deterioration in Prg4 Knockout Mice. 38
28604608 2017
38
The effect of valgus and varus femoral osteotomies on measures of anteversion in the dog. 38
28127618 2017
39
Management of Coxa Vara Septica and Pseudoarthrosis of the Femoral Neck: A Case Report. 38
28434011 2017
40
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 38
27888646 2017
41
[A medium term therapeutic effects of anatomic locking plate for femoral intertrochanteric with lateral femoral wall fractures]. 38
29349966 2017
42
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. 38
28291008 2017
43
Treatment of shepherd's crook deformity in patients with polyostotic fibrous dysplasia using a new type of custom made retrograde intramedullary nail: a technical note. 38
28439311 2017
44
Is surgery always indicated in rachitic coronal knee deformities? Our experience in 198 knees. 38
28222650 2017
45
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. 38
28141691 2017
46
Double intertrochanteric osteotomy for trochanteric overgrowth and a short femoral neck in adolescents. 38
28031513 2016
47
Varus will have varus; a radiological study to assess and predict varus stem placement in uncemented femoral stems. 38
27768218 2016
48
Nonunion paediatric femoral neck fracture treatment without open reduction. 38
27229168 2016
49
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. 38
27890699 2016
50
Non-union fracture neck femur in a toddler: Reconstructed by valgus osteotomy - A minimally invasive approach. 38
28018062 2016

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

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 MMP13 COL2A1
2 extracellular matrix organization GO:0030198 9.13 VTN COL2A1 COL10A1
3 endochondral ossification GO:0001958 8.62 MMP13 COL2A1

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 VTN MMP13
2 scavenger receptor activity GO:0005044 9.26 VTN PRG4
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL2A1 COL10A1
4 polysaccharide binding GO:0030247 8.96 VTN PRG4
5 extracellular matrix structural constituent GO:0005201 8.8 VTN COL2A1 COL10A1

Sources for Coxa Vara

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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