ANFH
MCID: AVS004
MIFTS: 56

Avascular Necrosis of the Femoral Head (ANFH) malady

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Avascular Necrosis of the Femoral Head

Aliases & Descriptions for Avascular Necrosis of the Femoral Head:

Name: Avascular Necrosis of the Femoral Head 54 38 13
Avascular Necrosis of Femoral Head, Primary 54 24
Femur Head Necrosis 42 69
Anfh 24 66
Avascular Necrosis of the Femoral Head, Primary 66
Familial Avascular Necrosis of Femoral Head 56
Familial Osteonecrosis of the Femoral Head 56
Avascular Necrosis of Femoral Head 66
Ischemic Necrosis of Femoral Head 66
Aseptic Necrosis of Femoral Head 66
Avascular Necrosis of Femur Head 69
Osteonecrosis of Femoral Head 66

Characteristics:

Orphanet epidemiological data:

56
familial avascular necrosis of femoral head
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult;

HPO:

32
avascular necrosis of the femoral head:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare bone diseases


External Ids:

OMIM 54 608805
Orphanet 56 ORPHA86820
ICD10 via Orphanet 34 M87.8
MedGen 40 C0410480
MeSH 42 D005271

Summaries for Avascular Necrosis of the Femoral Head

UniProtKB/Swiss-Prot : 66 Avascular necrosis of the femoral head, primary: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability.

MalaCards based summary : Avascular Necrosis of the Femoral Head, also known as avascular necrosis of femoral head, primary, is related to familial avascular necrosis of the femoral head and sickle cell disease, and has symptoms including avascular necrosis of the capital femoral epiphysis An important gene associated with Avascular Necrosis of the Femoral Head is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Folate Metabolism and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Alendronate and Methyclothiazide have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are homeostasis/metabolism and cardiovascular system

Description from OMIM: 608805

Related Diseases for Avascular Necrosis of the Femoral Head

Diseases in the Avascular Necrosis of the Femoral Head family:

Familial Avascular Necrosis of the Femoral Head

Diseases related to Avascular Necrosis of the Femoral Head via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 familial avascular necrosis of the femoral head 12.6
2 sickle cell disease 10.5
3 osteonecrosis 10.5
4 traumatic avascular necrosis 10.4
5 endotheliitis 10.2
6 leukemia 10.2
7 pleural tuberculosis 10.2 LEP SOD1
8 arthritis 10.2
9 idiopathic avascular necrosis 10.2
10 lupus erythematosus 10.2
11 systemic lupus erythematosus 10.2
12 nystagmus, congenital motor, autosomal recessive 10.2 HLA-DRB1 LEP
13 metatropic dysplasia 10.2 COL2A1 TRPV4
14 epiphyseal dysplasia, multiple, with myopia and deafness 10.2 COL2A1 TRPV4
15 albinism, oculocutaneous, type v 10.2 APOA1 APOB
16 slipped capital femoral epiphysis 10.1
17 bursitis 10.1
18 osteoarthritis 10.1
19 craniodiaphyseal dysplasia 10.1 APOA1 APOB
20 transient retinal arterial occlusion 10.1 APOA1 APOB
21 neurological manifestations of pompe disease 10.1 CAT SOD1
22 sp7-related osteogenesis imperfecta 10.1 COL2A1 TRPV4
23 joint disorders 10.1 APOA1 APOB
24 fetal alcohol spectrum disorder 10.1 COL2A1 TRPV4
25 bird fancier's lung 10.0 APOA1 APOB
26 prostate cancer 10.0
27 prostatitis 10.0
28 back pain 10.0
29 rheumatoid arthritis 10.0
30 lymphoma 10.0
31 lymphoblastic leukemia 10.0
32 periostitis 10.0
33 myositis fibrosa 10.0 CAT SOD1
34 lipomatosis 10.0 APOA1 APOB LEP
35 body dysmorphic disorder 10.0 APOA1 APOB LEP
36 skin squamous cell carcinoma 10.0 APOA1 APOB
37 chondrocalcinosis with early-onset osteoarthritis 10.0 APOA1 APOB
38 bell's palsy 10.0 IGFBP3 SOD1
39 mitochondrial complex iii deficiency, nuclear type 4 10.0 APOA1 APOB
40 narcolepsy 6 9.9 APOA1 APOB SREBF2
41 pityriasis rubra pilaris 9.9 IGFBP3 TRPV4
42 spinocerebellar ataxia 20 9.9 APOA1 APOB
43 sarcoma 9.9
44 trichorhinophalangeal syndrome 9.9
45 trichorhinophalangeal syndrome, type i 9.9
46 pituitary apoplexy 9.9
47 legg-calve-perthes disease 9.9
48 renal osteodystrophy 9.9
49 pandas 9.9
50 metachondromatosis 9.9

Graphical network of the top 20 diseases related to Avascular Necrosis of the Femoral Head:



Diseases related to Avascular Necrosis of the Femoral Head

Symptoms & Phenotypes for Avascular Necrosis of the Femoral Head

Clinical features from OMIM:

608805

Human phenotypes related to Avascular Necrosis of the Femoral Head:

32
id Description HPO Frequency HPO Source Accession
1 avascular necrosis of the capital femoral epiphysis 32 HP:0005743

MGI Mouse Phenotypes related to Avascular Necrosis of the Femoral Head:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 ABCB1 APOA1 APOB CAT COL2A1 IGFBP3
2 cardiovascular system MP:0005385 9.87 ABCB1 APOA1 APOB COL2A1 LEP SOD1
3 integument MP:0010771 9.63 APOA1 IGFBP3 LEP SOD1 SREBF2 TRPV4
4 liver/biliary system MP:0005370 9.56 ABCB1 APOA1 APOB COL2A1 IGFBP3 LEP
5 vision/eye MP:0005391 9.1 COL2A1 LEP SOD1 SREBF2 TRPV4 APOB

Drugs & Therapeutics for Avascular Necrosis of the Femoral Head

Drugs for Avascular Necrosis of the Femoral Head (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
2
Methyclothiazide Approved Phase 4 135-07-9 4121
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
4
Etidronic acid Approved Phase 4 7414-83-7, 2809-21-4 3305
5
Rivaroxaban Approved Phase 4 366789-02-8
6
Dalteparin Approved Phase 4 9041-08-1
7 diuretics Phase 4
8 Natriuretic Agents Phase 4
9 Sodium Chloride Symporter Inhibitors Phase 4
10 Anesthetics Phase 4,Phase 3,Phase 2,Early Phase 1
11 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2
12 Calcium, Dietary Phase 4,Phase 3,Phase 2
13 calcium heparin Phase 4
14 glucocorticoids Phase 4
15
protease inhibitors Phase 4
16 Serine Proteinase Inhibitors Phase 4
17 HIV Protease Inhibitors Phase 4
18 Heparin, Low-Molecular-Weight Phase 4
19 Hormone Antagonists Phase 4,Phase 2
20 Hormones Phase 4,Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
22 Factor Xa Inhibitors Phase 4
23 Anticoagulants Phase 4
24 Antithrombin III Phase 4
25 Antithrombins Phase 4
26 Atorvastatin Calcium Phase 4 134523-03-8
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
28 Hypolipidemic Agents Phase 4
29 Anticholesteremic Agents Phase 4
30 Lipid Regulating Agents Phase 4
31 Antimetabolites Phase 4
32 serine Nutraceutical Phase 4
33
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
34
Donepezil Approved Phase 3 120014-06-4 3152
35 Cholinergic Agents Phase 3
36 Neurotransmitter Agents Phase 3
37 Diphosphonates Phase 3,Phase 2
38 vitamin d Phase 3
39 Ibandronic acid Phase 3
40 Coagulants Phase 3
41 Hemostatics Phase 3
42 Fibrin Tissue Adhesive Phase 3
43 Cholinesterase Inhibitors Phase 3
44 Nootropic Agents Phase 3
45
Ketoconazole Approved, Investigational Phase 2 65277-42-1 47576 3823
46
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
47 Steroid Synthesis Inhibitors Phase 2
48 Cytochrome P-450 CYP3A Inhibitors Phase 2
49 Cytochrome P-450 Enzyme Inhibitors Phase 2
50 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 93)
id Name Status NCT ID Phase
1 Alendronate in the Prevention of Collapse of Femoral Head in Non-Traumatic Osteonecrosis Unknown status NCT00265252 Phase 4
2 A Randomised Single Centre Study to Compare the Long-Term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Unknown status NCT00208442 Phase 4
3 Benefit of Orthopedic Navigation in the ARThroplasty of the Hip Completed NCT01496300 Phase 4
4 Prophylaxis of Deep Vein Thrombosis Following Total Hip Arthroplasty Completed NCT02379663 Phase 4
5 Ultra-Short Anatomic and Conventional Cementless Stems Cementless Stems in Patients Younger Than Fifty-Five Years Old Completed NCT02338596 Phase 4
6 Vertebral Fracture and Osteonecrosis Associated With High-dose Glucocorticoid Completed NCT00679978 Phase 4
7 Assessment of the Effects of Atorvastatin Therapy on Myocardial Deformation Characteristics, in Patients With STEMI Recruiting NCT02590653 Phase 4
8 Efficacy of the CLP® Hip - Retrospective Terminated NCT00764842 Phase 4
9 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
10 Implantation of Bone Marrow Cells to Treat Avascular Necrosis of Femoral Head (ANFH) Unknown status NCT01613612 Phase 2, Phase 3
11 Proton Magnetic Resonance Spectroscopy (1H MRS) in Evaluating the Bone Marrow, Muscle and Adipose Tissue on Normal and Human Immunodeficiency Virus Infected Subjects Unknown status NCT00172315 Phase 3
12 Efficacy of Zoledronic Acid in Preventing Collapse of the Osteonecrotic Femoral Head Completed NCT00939900 Phase 3
13 Efficacy and Safety of Fibrin Sealant Vapor Heated Solvent/Detergent Treated (FS VH S/D) for Hemostasis in Subjects Undergoing Total Hip Replacement Completed NCT00161902 Phase 3
14 Study Into the Effect of Ibandronate for the Treatment of Bone Marrow Edema in Relation to Spontaneous or Non-traumatic Osteonecrosis of the Knee: A Randomized Double-blind, Placebo-controlled Trial Completed NCT00532220 Phase 3
15 Randomized Clinical Trial for the Treatment of Osteonecrosis of the Femoral Head Recruiting NCT01892514 Phase 3
16 Phase 3 Study on Autologous Osteoblastic Cells Implantation to Early Stage Osteonecrosis of the Femoral Head Recruiting NCT01529008 Phase 3
17 Trinity™ BIOLOX Delta™ CoC THR Multi-center Study Active, not recruiting NCT01921309 Phase 3
18 A Clinical Trial Study of Hip System in Primary Total Hip Arthroplasty in China Active, not recruiting NCT02399007 Phase 3
19 Donepezil Attenuate Postoperative Cognitive Dysfunction Not yet recruiting NCT02927522 Phase 3
20 A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement Terminated NCT00208468 Phase 3
21 Evaluation of Mesenchymal Stem Cells to Treat Avascular Necrosis of the Hip Unknown status NCT02065167 Phase 2
22 MBCP Safety and Performance in the Osteonecrosis of Femur Head Unknown status NCT00289575 Phase 2
23 Osteonecrosis of the Hip and Bisphosphonate Treatment Unknown status NCT00781261 Phase 2
24 Effectiveness of Two Types of Treatment in Restoring Muscle After Hip or Knee Surgery Completed NCT00393848 Phase 2
25 Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Avascular Necrosis of the Femoral Head Completed NCT01643655 Phase 1, Phase 2
26 Autologous Osteoblastic Cells Implantation to Early Stage Osteonecrosis of the Femoral Head Completed NCT02890537 Phase 2
27 Ixmyelocel-T Treatment of Patients With Osteonecrosis of the Femoral Head Completed NCT00505219 Phase 2
28 PHASE II CLINICAL TRIAL Prospective, Open, Nonrandomized Treatment of Osteonecrosis of the Femoral Head by the Administration of Autologous Mesenchymal Stem Cells Completed NCT01700920 Phase 2
29 Mesenchymal Stem Cells in Osteonecrosis of the Femoral Head Recruiting NCT01605383 Phase 1, Phase 2
30 Autologous Bone Marrow Stem Cell Transplantation for Hip Osteonecrosis in Sickle Cell Disease Enrolling by invitation NCT02448121 Phase 1, Phase 2
31 The Study of Early Stage Osteonecrosis of Femoral Head With Human Umbilical Cord Mesenchymal Stem Cells Not yet recruiting NCT03180463 Phase 1, Phase 2
32 Treatment of Osteonecrosis of the Femoral Head by Bone Marrow Transplantation Completed NCT00821470 Phase 1
33 Evaluate the Effect of Bone Marrow Derived Cd133+ Cells in Patient With Osteonecrosis of Femoral Head Completed NCT01198080 Phase 1
34 Molecular Genetic Study of Avascular Necrosis of the Femoral Head Unknown status NCT00260897
35 Mesenchymal Stem Cell for Osteonecrosis of the Femoral Head Unknown status NCT00813267 Early Phase 1
36 Comparison of Hip Resurfacing to Large Femoral Head Total Hip Arthroplasty Unknown status NCT00175487
37 Ketamine Prevent POCD Unknown status NCT02220400
38 Acetylcholine and Postoperative Cognitive Change in Aged Patients Unknown status NCT02063542
39 A Comparison of Two Different Surgical Techniques in Hip Resurfacing Arthroplasty Unknown status NCT00913679
40 Examine the Possible Association of Hepatic CYP3A Activity and the Susceptibility to Femur Head Necrosis Completed NCT00244400
41 Transcription Factor Runx2 in Necrotic Femoral Head Tissue Completed NCT02735538
42 Clinical and Radiological Results of Total Hip Arthroplasty Using a Ceramic Friction Pair Completed NCT02062437
43 The Use of Bisphosphonates in the Treatment of Avascular Necrosis of the Femoral Head Completed NCT02007915
44 Observational Study Evaluating Outcomes of Hip Arthroplasty Using Tornier Dual Mobility Acetabular Cup Completed NCT02062450
45 Rotational Thromboelastography Study in Tranexamic Acid and Colloid Infusion Completed NCT02146456
46 The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' Disease Completed NCT02676271
47 Controlled Study of Stage 3 Osteonecrosis Treatment by Bone Marrow Completed NCT01544712
48 Project JAY THA Registration Study Completed NCT02347384
49 A Clinical Investigation of the C2a-Taper™ Acetabular System Completed NCT00578851
50 Selective Ultrasound Screening for DDH 1991-2006 Completed NCT01866527

Search NIH Clinical Center for Avascular Necrosis of the Femoral Head

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Avascular Necrosis of the Femoral Head:
RNL-Astrostem
Embryonic/Adult Cultured Cells Related to Avascular Necrosis of the Femoral Head:
Adipose-derived mesenchymal stem cells PMIDs: 21303266 24341080

Cochrane evidence based reviews: femur head necrosis

Genetic Tests for Avascular Necrosis of the Femoral Head

Genetic tests related to Avascular Necrosis of the Femoral Head:

id Genetic test Affiliating Genes
1 Avascular Necrosis of Femoral Head, Primary 24 COL2A1

Anatomical Context for Avascular Necrosis of the Femoral Head

MalaCards organs/tissues related to Avascular Necrosis of the Femoral Head:

39
Bone, Bone Marrow, Endothelial, Heart, Myeloid, Prostate, Pituitary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Avascular Necrosis of the Femoral Head:
id Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Avascular Necrosis of the Femoral Head

Articles related to Avascular Necrosis of the Femoral Head:

(show top 50) (show all 365)
id Title Authors Year
1
Total hip arthroplasty after failed curved intertrochanteric varus osteotomy for avascular necrosis of the femoral head. ( 27019530 )
2016
2
Risk factors of avascular necrosis of the femoral head and fixation failure in patients with valgus angulated femoral neck fractures over the age of 50 years. ( 27793326 )
2016
3
Multiple Small Diameter Drillings Increase Femoral Neck Stability Compared with Single Large Diameter Femoral Head Core Decompression Technique for Avascular Necrosis of the Femoral Head. ( 27466872 )
2016
4
Effects of Focused Extracorporeal Shock Waves on Bone Marrow Mesenchymal Stem Cells in Patients with Avascular Necrosis of the Femoral Head. ( 26674675 )
2016
5
Roles of osteocyte apoptosis in steroid-induced avascular necrosis of the femoral head. ( 27050956 )
2016
6
F-18 fluoride positron emission tomography/computed tomography in the diagnosis of avascular necrosis of the femoral head: Comparison with magnetic resonance imaging. ( 26917886 )
2016
7
Tao-Hong-Si-Wu Decoction ameliorates steroid-induced avascular necrosis of the femoral head by regulating the HIF-1I+ pathway and cell apoptosis. ( 27558153 )
2016
8
Avascular necrosis of the femoral head at 2 years after pertrochanteric fracture surgery: Case report. ( 26900462 )
2016
9
Bilateral avascular necrosis of the femoral head following treatment of Ewing's sarcoma. ( 26586407 )
2016
10
Effects of hypoxia on osteogenic differentiation of mesenchymal stromal cells used as a cell therapy for avascular necrosis of the femoral head. ( 27421741 )
2016
11
Role of Ayurveda in the conservative management of avascular necrosis of the femoral head: A case study. ( 27143802 )
2016
12
Evaluation of the stability of reference genes in bone mesenchymal stem cells from patients with avascular necrosis of the femoral head. ( 27323096 )
2016
13
Inter-observer and intra-observer reliability in the radiographic diagnosis of avascular necrosis of the femoral head following reconstructive hip surgery in children with cerebral palsy. ( 26972813 )
2016
14
Transtrochanteric rotational osteotomy for avascular necrosis of the femoral head after unstable slipped capital femoral epiphysis: 10-year clinical results. ( 27461924 )
2016
15
In vitro and in vivo evaluation of calcium phosphate composite scaffolds containing BMP-VEGF loaded PLGA microspheres for the treatment of avascular necrosis of the femoral head. ( 26706534 )
2016
16
Impaired osteogenic differentiation associated with connexin43/microRNA-206 in steroid-induced avascular necrosis of the femoral head. ( 27450649 )
2016
17
Core Decompression Augmented With Autologous Bone Marrow Aspiration Concentrate for Early Avascular Necrosis of the Femoral Head. ( 27656386 )
2016
18
Incidence of Avascular Necrosis of the Femoral Head After Intramedullary Nailing of Femoral Shaft Fractures: A Multicenter Retrospective Analysis of 542 Cases. ( 26844518 )
2016
19
Management of non-traumatic avascular necrosis of the femoral head-a comparative analysis of the outcome of multiple small diameter drilling and core decompression with fibular grafting. ( 27757848 )
2016
20
Early treatment with the von Rosen splint for neonatal instability of the hip is safe regarding avascular necrosis of the femoral head. ( 26730503 )
2016
21
Efficacy and safety evaluation of intravenous infusion of cervus and cucumis polypeptides for treatment of avascular necrosis of the femoral head: a randomized clinical trial. ( 26946617 )
2016
22
Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 27847717 )
2016
23
The physiopathology of avascular necrosis of the femoral head: an update. ( 28040082 )
2016
24
Avascular Necrosis of the Femoral Head After Palliative Radiotherapy in Metastatic Prostate Cancer: Absence of a Dose Threshold? ( 27081582 )
2016
25
Evaluation of the muscle morphology of the obturator externus and piriformis as the predictors of avascular necrosis of the femoral head in acetabular fractures. ( 27116689 )
2016
26
Aspects of postoperative magnetic resonance imaging of patients with avascular necrosis of the femoral head, treated by advanced core decompression. ( 26093539 )
2015
27
Incremental value of 99mTc-MDP hybrid SPECT/CT over planar scintigraphy and SPECT in avascular necrosis of the femoral head. ( 26308940 )
2015
28
A steroid-induced bilateral avascular necrosis of the femoral head in an underage patient affected by multiple sclerosis. ( 26811707 )
2015
29
Repair effect of coexpression of the hVEGF and hBMP genes via an adeno-associated virus vector in a rabbit model of early steroid-induced avascular necrosis of the femoral head. ( 25843672 )
2015
30
Avascular Necrosis of the Femoral Head: Are Any Genes Involved? ( 26213697 )
2015
31
Hip resurfacing arthroplasty in treatment of avascular necrosis of the femoral head. ( 25618763 )
2015
32
Avascular Necrosis of the Femoral Head Masquerading as Iliopsoas Bursitis: Imaging With Ultrasound and Magnetic Resonance. ( 26418490 )
2015
33
Avascular necrosis of the femoral head. ( 25929162 )
2015
34
Protective effects of total saponins of panax notoginseng on steroid-induced avascular necrosis of the femoral head in vivo and in vitro. ( 25694788 )
2015
35
Bilateral avascular necrosis of the femoral head due to the use of heroin: A case report. ( 26595896 )
2015
36
Vascular endothelial growth factor/bone morphogenetic protein-2 bone marrow combined modification of the mesenchymal stem cells to repair the avascular necrosis of the femoral head. ( 26629044 )
2015
37
Nitric oxide content and apoptosis rate in steroid-induced avascular necrosis of the femoral head. ( 26622359 )
2015
38
Geometric analysis of an expandable reamer for treatment of avascular necrosis of the femoral head. ( 26185054 )
2015
39
Enoxaparin prevents steroid-related avascular necrosis of the femoral head. ( 25110730 )
2014
40
Effectiveness of synovial fluid mesenchymal stem cells embedded in alginate beads for treatment of steroid-induced avascular necrosis of the femoral head. ( 24789300 )
2014
41
Intra-articular loose body caused by avascular necrosis of the femoral head in children. ( 24045502 )
2014
42
Stem cell therapy for the treatment of early stage avascular necrosis of the femoral head: a systematic review. ( 24886648 )
2014
43
A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-CalvAc-Perthes disease or avascular necrosis of the femoral head. ( 24949742 )
2014
44
ABCB1 gene polymorphisms and glucocorticoid-induced avascular necrosis of the femoral head susceptibility: a meta-analysis. ( 25544111 )
2014
45
Avascular necrosis of the femoral head. ( 24979495 )
2014
46
Evidence for using alendronate to treat adult avascular necrosis of the femoral head: a systematic review. ( 25424061 )
2014
47
Stem cell treatment for avascular necrosis of the femoral head: current perspectives. ( 24744611 )
2014
48
Cotransplantation of bone marrow mononuclear cells and umbilical cord mesenchymal stem cells in avascular necrosis of the femoral head. ( 24507042 )
2014
49
Avascular necrosis of the femoral head following trochanteric fractures in adults: a systematic review. ( 25467713 )
2014
50
Pro-osteogenic effects of fibrin glue in treatment of avascular necrosis of the femoral head in vivo by hepatocyte growth factor-transgenic mesenchymal stem cells. ( 24885252 )
2014

Variations for Avascular Necrosis of the Femoral Head

UniProtKB/Swiss-Prot genetic disease variations for Avascular Necrosis of the Femoral Head:

66
id Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly717Ser VAR_023929 rs387906558
2 COL2A1 p.Gly1170Ser VAR_023933 rs121912891
3 COL2A1 p.Thr1383Met VAR_075730 rs138498898

ClinVar genetic disease variations for Avascular Necrosis of the Femoral Head:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh37 Chromosome 12, 48369835: 48369835
2 COL2A1 NM_001844.4(COL2A1): c.2149G> A (p.Gly717Ser) single nucleotide variant Pathogenic rs387906558 GRCh37 Chromosome 12, 48376675: 48376675
3 COL2A1 NM_001844.4(COL2A1): c.4148C> T (p.Thr1383Met) single nucleotide variant Pathogenic rs138498898 GRCh37 Chromosome 12, 48368041: 48368041

Expression for Avascular Necrosis of the Femoral Head

Search GEO for disease gene expression data for Avascular Necrosis of the Femoral Head.

Pathways for Avascular Necrosis of the Femoral Head

Pathways related to Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 APOA1 APOB CAT SOD1
2 11.42 COL2A1 IGFBP3 LEP
3
Show member pathways
11.16 ABCB1 APOA1 APOB
4 10.86 CAT SOD1
5 10.7 APOA1 APOB
6
Show member pathways
10.4 ABCB1 CAT SOD1

GO Terms for Avascular Necrosis of the Femoral Head

Cellular components related to Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 APOA1 APOB CAT COL2A1 IGFBP3 LEP
2 cytoplasmic vesicle GO:0031410 9.8 APOA1 SOD1 SREBF2 TRPV4
3 cell surface GO:0009986 9.78 ABCB1 APOA1 HLA-DRB1 TRPV4
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.51 APOB HLA-DRB1
5 endoplasmic reticulum lumen GO:0005788 9.46 APOA1 APOB COL2A1 IGFBP3
6 very-low-density lipoprotein particle GO:0034361 9.43 APOA1 APOB
7 endocytic vesicle lumen GO:0071682 9.4 APOA1 APOB
8 low-density lipoprotein particle GO:0034362 9.32 APOA1 APOB
9 chylomicron GO:0042627 9.26 APOA1 APOB
10 extracellular space GO:0005615 9.17 APOA1 APOB CAT COL2A1 IGFBP3 LEP
11 intermediate-density lipoprotein particle GO:0034363 8.96 APOA1 APOB
12 extracellular exosome GO:0070062 10 ABCB1 APOA1 APOB CAT HLA-DRB1 IGFBP3

Biological processes related to Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 APOA1 APOB LEP SREBF2
2 cellular protein metabolic process GO:0044267 9.79 APOA1 APOB IGFBP3
3 response to drug GO:0042493 9.78 ABCB1 APOA1 CAT SOD1
4 response to ethanol GO:0045471 9.71 CAT LEP SOD1
5 steroid metabolic process GO:0008202 9.7 APOA1 APOB SREBF2
6 response to estradiol GO:0032355 9.69 APOB CAT LEP
7 placenta development GO:0001890 9.62 LEP SOD1
8 protein tetramerization GO:0051262 9.61 CAT HLA-DRB1
9 regulation of cholesterol biosynthetic process GO:0045540 9.6 APOB SREBF2
10 positive regulation of cytokine production GO:0001819 9.59 LEP SOD1
11 triglyceride catabolic process GO:0019433 9.58 APOA1 APOB
12 cholesterol efflux GO:0033344 9.57 APOA1 APOB
13 cholesterol transport GO:0030301 9.56 APOA1 APOB
14 response to reactive oxygen species GO:0000302 9.55 CAT SOD1
15 response to insulin GO:0032868 9.5 CAT LEP TRPV4
16 response to vitamin E GO:0033197 9.49 CAT LEP
17 lipoprotein biosynthetic process GO:0042158 9.46 APOA1 APOB
18 chylomicron assembly GO:0034378 9.43 APOA1 APOB
19 chylomicron remodeling GO:0034371 9.4 APOA1 APOB
20 positive regulation of cholesterol storage GO:0010886 9.37 APOB SREBF2
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 COL2A1 TRPV4
22 regulation of intestinal cholesterol absorption GO:0030300 9.16 APOA1 LEP
23 cholesterol metabolic process GO:0008203 9.02 APOA1 APOB CAT LEP SREBF2
24 regulation of response to osmotic stress GO:0047484 8.96 ABCB1 TRPV4

Molecular functions related to Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 antioxidant activity GO:0016209 9.16 CAT SOD1
2 lipid transporter activity GO:0005319 8.96 APOA1 APOB
3 cholesterol transporter activity GO:0017127 8.62 APOA1 APOB

Sources for Avascular Necrosis of the Femoral Head

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
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