Aliases & Classifications for Coxa Vara

MalaCards integrated aliases for Coxa Vara:

Name: Coxa Vara 56 29 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coxa vara:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 122750
MedGen 41 C0239138
SNOMED-CT via HPO 68 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, kidney and pituitary, and related phenotype is coxa vara.

Wikipedia : 74 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 87)
# Related Disease Score Top Affiliating Genes
1 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 33.6 VTN TPR PRG4 AZU1
2 spondyloepimetaphyseal dysplasia, strudwick type 33.2 COL2A1 COL10A1
3 spondyloepiphyseal dysplasia congenita 32.7 COL2A1 COL10A1
4 pericarditis 31.1 VTN TPR PRG4
5 arthropathy 30.9 PRG4 MMP13 COL2A1
6 osteochondrosis 30.8 COL2A1 COL10A1
7 cleidocranial dysplasia 30.4 MMP13 COL10A1
8 pyle disease 30.3 COL2A1 COL10A1
9 brittle bone disorder 30.3 CRTAP COL2A1 COL10A1
10 odontochondrodysplasia 30.1 CRTAP COL2A1 COL10A1
11 bone disease 29.8 MMP13 COL2A1 COL10A1
12 synovitis 29.8 PRG4 MMP13 COL2A1
13 scoliosis 29.6 MMP13 COL2A1 COL10A1
14 osteoarthritis 29.4 PRG4 MMP13 COL2A1 COL10A1
15 coxa vara, congenital 12.6
16 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 12.2
17 spondylometaphyseal dysplasia, corner fracture type 11.9
18 slipped capital femoral epiphysis 11.8
19 metaphyseal chondrodysplasia, schmid type 11.7
20 epiphyseal dysplasia, microcephaly, and nystagmus 11.7
21 rhizomelic dysplasia, patterson-lowry type 11.7
22 spondyloepimetaphyseal dysplasia, sponastrime type 11.7
23 spondyloepimetaphyseal dysplasia, missouri type 11.6
24 cdags syndrome 11.5
25 47,xyy 11.5
26 beukes hip dysplasia 11.4
27 ophthalmomandibulomelic dysplasia 11.4
28 spondyloepiphyseal dysplasia tarda, x-linked 11.4
29 osteogenesis imperfecta, type vii 11.4
30 legg-calve-perthes disease 10.7
31 avascular necrosis 10.7
32 juvenile rheumatoid arthritis 10.6
33 autosomal recessive disease 10.5
34 fibrous dysplasia 10.5
35 dysostosis 10.5
36 overgrowth syndrome 10.5
37 spondyloepiphyseal dysplasia with congenital joint dislocations 10.5
38 rickets 10.5
39 hemopericardium 10.5
40 pericardial effusion 10.5
41 multiple epiphyseal dysplasia 10.5
42 cerebral palsy 10.5
43 osteochondritis dissecans 10.5
44 skeletal dysplasias 10.5
45 spondyloepimetaphyseal dysplasia, matrilin-3 related 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:

31
# Description HPO Frequency HPO Source Accession
1 coxa vara 31 HP:0002812

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Kidney, Pituitary, Heart

Publications for Coxa Vara

Articles related to Coxa Vara:

(show top 50) (show all 697)
# Title Authors PMID Year
1
Hereditary congenital coxa vara with dominant inheritance? 61 56
5101666 1971
2
Familial infantile coxa vara. 61 56
13332001 1956
3
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia. 61
31628567 2020
4
[Comparison of proximal femoral nail anti-rotation operation in traction bed supine position and non-traction bed lateral position in treatment of intertrochanteric fracture of femur]. 61
31939231 2020
5
Complications After Pediatric Hip Fractures: Evaluation and Management. 61
31633660 2020
6
Slipped capital femoral epiphysis after treatment of femoral neck fracture. 61
31933615 2020
7
Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia. 61
31856751 2019
8
Limitations of arthroscopy for managing coxa profunda. 61
31672415 2019
9
Free Fracture Fragment Predicts Poorer Outcomes in Adolescents With Delbet II Femoral Neck Fracture. 61
31841732 2019
10
Adult Idiopathic Bilateral Coxa Vara with Hip Osteoarthritis Treated with Bilateral Proximal Femur Osteotomy: A Case Report. 61
31688053 2019
11
[Research progress on anteromedial cortical positive support reduction in treatment of intertrochanteric fracture]. 61
31544428 2019
12
Schmid Metaphyseal Chondrodysplasia 61
31633898 2019
13
The Phenomenon of the Apparent (Double) Femoral Head in Infant Hip Sonography According to Graf-Description, Incidence and Clinical Relevance. 61
31634952 2019
14
Evaluation of the Efficacy of Pasteurized Autograft and Intramedullary Vascularized Fibular Transfer for Osteosarcoma of the Femoral Diaphysis. 61
31663287 2019
15
[Clinical study on reduction of difficult-reducing intertrochanteric fracture with ball head screw driver of proximal femoral nail antirotation]. 61
31544434 2019
16
Analyzing risk factors for recurrence of developmental coxa vara after surgery. 61
31489041 2019
17
The Community Orthopaedic Surgeon Taking Trauma Call: Pediatric Femoral Neck Fracture Pearls and Pitfalls. 61
31290842 2019
18
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. 61
31169747 2019
19
Findings and Management of the Rare Caput Flexum Deformity of the Hip: A Case Report. 61
31441832 2019
20
[Effectiveness of proximal femoral nail antirotation assisted by mesh locator for intertrochanteric fracture in the elderly]. 61
31197990 2019
21
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. 61
31191206 2019
22
Surgical correction of coxa vara: Evaluation of neck shaft angle, Hilgenreiner-epiphyseal angle for indication of recurrence. 61
31061596 2019
23
The 'critical trochanter angle': a predictor for stem alignment in total hip arthroplasty. 61
31146787 2019
24
Damage control orthopedics applied in an 8-year-old child with life-threatening multiple injuries: A CARE-compliant case report. 61
31008978 2019
25
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". 61
30599297 2019
26
Incidence, risk factors and prognosis of transient pseudosubluxation after total hip arthroplasty. 61
29739249 2019
27
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
28
The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study. 61
30608389 2019
29
Proximal Femur Fractures in Children: Enigmatic Injuries. 61
32032056 2019
30
Temporary epiphysiodesis using the FlexTack™ implant (tension band) featuring a modified explantation technique. 61
29907912 2018
31
Femoral Neck Fractures in Children: A Review. 61
30237607 2018
32
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
33
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. 61
29156476 2018
34
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. 61
30027601 2018
35
PFNA vs. DHS helical blade for elderly patients with osteoporotic femoral intertrochanteric fractures. 61
30004570 2018
36
Management of Pediatric Femoral Neck Fracture. 61
29781820 2018
37
Pediatric proximal femur fractures. 61
29681707 2018
38
Long-term Outcomes of Operative and Nonoperative Treatment of Congenital Coxa Vara. 61
27261966 2018
39
Management of femoral neck fractures in children: Experience of a short series in a developing country. 61
31290477 2018
40
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. 61
29397575 2018
41
Locking plate and fibular strut-graft augmentation in the reconstruction of unicameral bone cyst of proximal femur in the paediatric population. 61
28963665 2018
42
Technical particularities of joint preserving hip surgery in osteopetrosis. 61
29250335 2017
43
Transfixing Kirshner wires for fixation of intertrochanteric valgus osteotomies in management of pediatric coxa vara. 61
28702703 2017
44
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 61
29100092 2017
45
Evaluation of outcome of proximal femur locking compression plate (PFLCP) in unstable proximal femur fractures. 61
29062210 2017
46
DHS osteosynthesis with internal bone grafting in unstable delayed presented intracapsular neck femur fractures. 61
28802420 2017
47
A Modified Technique of Fixation for Proximal Femoral Valgus Osteotomy in Abnormal Bone: A Report of Two Cases. 61
29021887 2017
48
Trochantoplasty for Total Hip Arthroplasty in Patients With Coxa Vara Deformity. 61
28262457 2017
49
Percutaneous multiplanar subtrochanteric osteotomy with external fixation for developmental coxa vara (preliminary results). 61
27748677 2017
50
Coxa vara in postseptic arthritis of the hip in children. 61
28151779 2017

Variations for Coxa Vara

Expression for Coxa Vara

Search GEO for disease gene expression data for Coxa Vara.

Pathways for Coxa Vara

Pathways related to Coxa Vara according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 VTN PRG4 MMP13 COL2A1 COL10A1
2
Show member pathways
12.28 MMP13 CRTAP COL2A1 COL10A1
3
Show member pathways
11.67 VTN MMP13 CRTAP COL2A1 COL10A1
4 11.39 VTN COL10A1
5 11.14 MMP13 COL2A1 COL10A1
6 10.92 VTN MMP13 COL2A1

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 space GO:0005615 9.73 VTN MMP13 CRTAP COL2A1 COL10A1 AZU1
2 endoplasmic reticulum lumen GO:0005788 9.54 CRTAP COL2A1 COL10A1
3 extracellular matrix GO:0031012 9.5 MMP13 COL2A1 COL10A1
4 collagen-containing extracellular matrix GO:0062023 9.46 VTN PRG4 COL2A1 COL10A1
5 extrinsic component of membrane GO:0019898 9.4 TPR AZU1
6 extracellular region GO:0005576 9.17 VTN PRG4 MMP13 CRTAP COL2A1 COL10A1
7 collagen trimer GO:0005581 9.13 MMP13 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 endochondral ossification GO:0001958 8.96 MMP13 COL2A1
3 extracellular matrix organization GO:0030198 8.92 VTN MMP13 COL2A1 COL10A1

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

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 9.26 VTN PRG4
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL2A1 COL10A1
3 polysaccharide binding GO:0030247 8.96 VTN PRG4
4 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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