ANFH1
MCID: AVS006
MIFTS: 42

Avascular Necrosis of Femoral Head, Primary, 1 (ANFH1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Avascular Necrosis of Femoral Head, Primary, 1

MalaCards integrated aliases for Avascular Necrosis of Femoral Head, Primary, 1:

Name: Avascular Necrosis of Femoral Head, Primary, 1 56 73 37
Avascular Necrosis of the Femoral Head 56 13
Avascular Necrosis of Femoral Head 73 36
Ischemic Necrosis of Femoral Head 56 73
Osteonecrosis of Femoral Head 56 73
Femur Head Necrosis 43 71
Anfh1 56 73
Femoral Head, Avascular Necrosis of; Anfh 56
Femoral Head, Avascular Necrosis of 56
Femoral Head, Aseptic Necrosis of 56
Necrosis, Avascular, Femoral Head 39
Aseptic Necrosis of Femoral Head 73
Avascular Necrosis of Femur Head 71
Anfh 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
patients present with groin pain
onset of symptoms in second to fifth decades of life


HPO:

31
avascular necrosis of femoral head, primary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 608805
OMIM Phenotypic Series 56 PS608805
KEGG 36 H01529
MeSH 43 D005271
UMLS 71 C0015814 C0410480

Summaries for Avascular Necrosis of Femoral Head, Primary, 1

KEGG : 36 Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. Most cases are sporadic, but familial cases have been described. It has been reported Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually diagnosed among children under age 14 years, with a peak onset between 5 and 8 years of age. There is delayed skeletal maturation and impaired growth. In addition to congenital abnormalities, LCPD is associated with greater risk of cardiovascular diseases and diseases of the blood. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.

MalaCards based summary : Avascular Necrosis of Femoral Head, Primary, 1, also known as avascular necrosis of the femoral head, is related to avascular necrosis of femoral head, primary, 2 and familial avascular necrosis of the femoral head. An important gene associated with Avascular Necrosis of Femoral Head, Primary, 1 is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are HIF-1 signaling pathway and VEGF signaling pathway. The drugs Heparin and Enoxaparin have been mentioned in the context of this disorder. Affiliated tissues include Adipose, and related phenotypes are generalized osteoporosis and avascular necrosis of the capital femoral epiphysis

OMIM : 56 Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). (608805)

UniProtKB/Swiss-Prot : 73 Avascular necrosis of femoral head, primary, 1: 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. ANFH1 inheritance is autosomal dominant.

Related Diseases for Avascular Necrosis of Femoral Head, Primary, 1

Diseases in the Familial Avascular Necrosis of the Femoral Head family:

Avascular Necrosis of Femoral Head, Primary, 1 Avascular Necrosis of Femoral Head, Primary, 2

Diseases related to Avascular Necrosis of Femoral Head, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 avascular necrosis of femoral head, primary, 2 12.3
2 familial avascular necrosis of the femoral head 11.7
3 avascular necrosis 10.9
4 sickle cell disease 10.8
5 legg-calve-perthes disease 10.6
6 sickle cell anemia 10.5
7 lymphocytic leukemia 10.5
8 alcohol dependence 10.4
9 leukemia, acute lymphoblastic 10.4
10 b-cell lymphoma 10.4
11 graft-versus-host disease 10.3
12 thalassemia 10.3
13 gout 10.3
14 frozen shoulder 10.3
15 synovitis 10.3
16 hemoglobinopathy 10.3
17 bursitis 10.3
18 osteochondrosis 10.3
19 osteochondritis dissecans 10.3
20 47,xyy 10.3
21 slipped capital femoral epiphysis 10.3
22 back pain 10.3
23 severe acute respiratory syndrome 10.3
24 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
25 lymphoma 10.3
26 chondrocalcinosis 10.3
27 vascular disease 10.3
28 gaucher's disease 10.3
29 cerebral palsy 10.3
30 purpura 10.3
31 systemic scleroderma 10.3
32 osteoporosis 10.2
33 bone mineral density quantitative trait locus 8 10.2
34 bone mineral density quantitative trait locus 15 10.2
35 osteonecrosis 10.2
36 traumatic avascular necrosis 10.2
37 systemic lupus erythematosus 10.2
38 osteoarthritis 10.2
39 lupus erythematosus 10.2
40 hydrops, lactic acidosis, and sideroblastic anemia 10.1
41 bone disease 10.1
42 breast cancer 10.1
43 coxa vara 10.1
44 multiple sclerosis 10.1
45 hypercholesterolemia, familial, 1 10.1
46 hypertriglyceridemia, familial 10.1
47 leukemia, chronic lymphocytic 10.1
48 metachondromatosis 10.1
49 scleroderma, familial progressive 10.1
50 thrombocytopenic purpura, autoimmune 10.1

Graphical network of the top 20 diseases related to Avascular Necrosis of Femoral Head, Primary, 1:



Diseases related to Avascular Necrosis of Femoral Head, Primary, 1

Symptoms & Phenotypes for Avascular Necrosis of Femoral Head, Primary, 1

Human phenotypes related to Avascular Necrosis of Femoral Head, Primary, 1:

31
# Description HPO Frequency HPO Source Accession
1 generalized osteoporosis 31 occasional (7.5%) HP:0040160
2 avascular necrosis of the capital femoral epiphysis 31 HP:0005743

Symptoms via clinical synopsis from OMIM:

56
Skeletal Pelvis:
narrowing of joint space
degeneration of hip joint

Skeletal Spine:
mild scoliosis (in some patients)

Skeletal:
generalized osteoporosis (in some patients)

Skeletal Limbs:
avascular necrosis of the femoral head
cystic changes of femoral head
sclerosis of femoral head
necrosis of bone and marrow tissue on histopathology

Clinical features from OMIM:

608805

Drugs & Therapeutics for Avascular Necrosis of Femoral Head, Primary, 1

Drugs for Avascular Necrosis of Femoral Head, Primary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
2
Enoxaparin Approved Phase 4 9005-49-6 772
3
Dalteparin Approved Phase 4 9005-49-6
4
Rivaroxaban Approved Phase 4 366789-02-8
5 Antithrombins Phase 4
6 HIV Protease Inhibitors Phase 4
7
protease inhibitors Phase 4
8 Serine Proteinase Inhibitors Phase 4
9 Anticoagulants Phase 4
10 Heparin, Low-Molecular-Weight Phase 4
11 calcium heparin Phase 4
12 Antithrombin III Phase 4
13 Factor Xa Inhibitors Phase 4
14
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
15
Zoledronic Acid Approved Phase 3 118072-93-8 68740
16
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
18
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
19 Diphosphonates Phase 3
20 Calcium, Dietary Phase 3
21 Calciferol Phase 3
22 Hemostatics Phase 3
23 Coagulants Phase 3
24 Fibrin Tissue Adhesive Phase 3
25 Ibandronic Acid Phase 3
26 Anti-Inflammatory Agents Phase 3
27 Fibrinolytic Agents Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 3
30 Platelet Aggregation Inhibitors Phase 3
31 Cyclooxygenase Inhibitors Phase 3
32 Antipyretics Phase 3
33 Antirheumatic Agents Phase 3
34 Analgesics Phase 3
35
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
36
Ketoconazole Approved, Investigational Phase 2 65277-42-1 47576
37 Anesthetics Phase 2
38 Hormone Antagonists Phase 2
39 Hormones Phase 2
40 Cytochrome P-450 CYP3A Inhibitors Phase 2
41 Anti-Infective Agents Phase 2
42 Cytochrome P-450 Enzyme Inhibitors Phase 2
43 Antifungal Agents Phase 2
44 Steroid Synthesis Inhibitors Phase 2
45
Cisatracurium Approved Early Phase 1 96946-41-7
46
Remifentanil Approved Early Phase 1 132875-61-7 60815
47
Propofol Approved, Investigational, Vet_approved Early Phase 1 2078-54-8 4943
48
Sufentanil Approved, Investigational Early Phase 1 56030-54-7 41693
49
Ropivacaine Approved Early Phase 1 84057-95-4 71273 175805
50
Tranexamic Acid Approved 1197-18-8 5526

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety for Prophylaxis of Deep Vein Thrombosis Following Total Hip Arthroplasty Completed NCT02379663 Phase 4 Rivaroxaban;Enoxaparin
2 Randomised Controlled Double-blind Monocenter Therapy Study Validating the Benefit From Information Provided by Image Free Navigation System on the Precision of the Placement of Acetabular Component in Patients Undergoing Primary THA Completed NCT01496300 Phase 4
3 Control Study of Implantation of Enriched Bone Marrow Cells for the Treatment of Avascular Necrosis of Femoral Head Unknown status NCT01613612 Phase 2, Phase 3
4 Combined Treatment of Early and Advanced Osteonecrosis of the Femoral Head With Core Decompression and Grafting With Demineralized Bone Matrix (DBM) or Homologous Lyophilized Bone Chips (LBC) Together With Platelet-rich-fibrin (PRF) and Concentrated Bone Marrow (CBM) Unknown status NCT01892514 Phase 3
5 Multicenter, Open-labeled, Randomized Clinical Trial to Determine the Efficacy of Zoledronic Acid in Preventing Collapse of the Osteonecrotic Femoral Head Completed NCT00939900 Phase 3 zoledronic acid (aclasta)
6 A Randomized, Controlled, Multicenter Study to Evaluate Efficacy and Safety of Fibrin Sealant VH S/D for Hemostasis in Subjects Undergoing Total Hip Replacement Completed NCT00161902 Phase 3 Fibrin Sealant Vapor-Heated Solvent/Detergent-treated
7 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 Ibandronate IV;Placebo
8 Aspirin (Acetylsalicylic Acid) in the Prevention of Collapse of the Femoral Head in Early-stage Non-traumatic Osteonecrosis: a Two-year Multicenter, Prospective, Randomized, Double-blind, Placebo-controlled Study Recruiting NCT03405974 Phase 3 Aspirin;Placebo
9 Evaluation of Safety and Feasibility of Bone Marrow Derived Autologous MSCs to Enhance Bone Healing in Patients With Avascular Necrosis of the Femoral Head Unknown status NCT02065167 Phase 2
10 The Study of Early Stage Osteonecrosis of Femoral Head With Human Umbilical Cord Mesenchymal Stem Cells (hUC-MSC) Unknown status NCT03180463 Phase 1, Phase 2 Allogeneic umbilical cord mesenchymal stem cells (SCLnow 19#)
11 Treatment of Osteonecrosis of the Femoral Head by Implantation of Preosteoblastic Cells: a Randomized, Controlled, Single Blind Pilot Study Completed NCT02890537 Phase 2 Core decompression/PREOB® implantation;Core decompression/BMC implantation
12 Restoration of Muscle Following Hip Surgery Completed NCT00393848 Phase 2 Essential amino acid supplement;Ketoconazole;Placebo
13 A Pilot Clinical Trial of "ex Vivo" Expanded Autologous Bone Marrow Mesenchymal Stem Cells Fixed in Allogenic Human Bone Tissue (XCEL-MT-OSTEO- ALPHA) in Osteonecrosis of the Femoral Head Active, not recruiting NCT01605383 Phase 1, Phase 2
14 Molecular Genetic Study of Avascular Necrosis of the Femoral Head-Revealing ANFH Pathogenesis Mechanism by Cell and Animal Models Unknown status NCT00260897
15 Genome-wide Association Study Identified Susceptibility Loci for Glucocorticoid-induced Femur Head Necrosis in the Chinese Population Unknown status NCT02365077
16 Porous Tantalum Rods Improve the Hip Joint Function of Patients With Avascular Necrosis of the Femoral Head After Femoral Neck Fracture Surgery: a Randomized Controlled Trial Unknown status NCT02877472
17 Proton Magnetic Resonance Spectroscopy (1H MRS) in Evaluating the Bone Marrow, Muscle and Adipose Tissue on Normal and Human Immunodeficiency Virus Infected Subjects, With Serial Follow-Up Unknown status NCT00172315
18 Feasibility of Implantation of Cemented Femoral Stem in the Treatment of Osteoporotic Femoral Neck Fracture in Elderly Patients: a Randomized Controlled Trial Unknown status NCT02901938
19 The Clinical Investigation of Anesthesia Depth's Influence in Total Intravenous Anesthesia on Postoperative Delirium of Elderly Patients Unknown status NCT02972762 Early Phase 1 Diprivan
20 Safety and Efficacy of Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Avascular Necrosis of the Femoral Head Completed NCT01643655
21 Examine the Possible Association of Hepatic CYP3A Activity and the Susceptibility to Femur Head Necrosis Completed NCT00244400
22 A Comparison of Two Different Surgical Techniques for Total Hip Resurfacing Completed NCT00750984
23 The Effect of Tranexamic Acid on Blood Coagulation After Colloid Infusion During Surgery: Rotational Thromboelastography Measurement Completed NCT02146456 Tranexamic Acid
24 Multicentric Observational Study Evaluating Clinical and Radiological Results of a Total Hip Arthroplasty Using a Ceramic Friction Pair Completed NCT02062437
25 Transcription Factor Runx2 in Necrotic Femoral Head Tissue: Study Protocol for a Retrospective Non-randomized, Parallel-controlled Clinical Trial Completed NCT02735538
26 Multicentre, Observational Study Evaluating the Clinical and Radiological Outcomes of Hip Arthroplasty Using the Dual Mobility Cup Completed NCT02062450
27 Effectiveness of Fast-track Clinical Pathway on Minimally-invasive Total Hip Arthroplasty Surgery in NTUH Completed NCT04145921
28 The Effect of Autologous Bone Marrow Concentration Combined With Core Decompression for Avascular Necrosis of Femoral Head Recruiting NCT03787329
29 SLIP Registry - SCFE Longitudinal International Prospective Registry Recruiting NCT04117841
30 Multicentric Observational Study to Evaluate Long-Term Outcome, Performance, and Safety of Tornier's Implantable Devices in Hip Arthroplasty Recruiting NCT02230826
31 Prospective, Non-Interventional, Multicenter, Post-Market Clinical Follow-up Study CoreHip® Recruiting NCT03685110
32 A Prospective, Non-randomized, Consecutive Series, Multicentre, Observational Study to Evaluate the Clinical Outcome of ceramic-on- Ceramic Hip Resurfacing Arthroplasty Using the Ceramic, Non-porous, Non- Cemented H1 Hip Resurfacing Arthroplasty Recruiting NCT03326804
33 Prospective Randomized Controlled Trial of Impact of Enhanced Recovery After Surgery(ERAS) for Outcomes of Total Knee and Hip Arthroplasty Recruiting NCT03869203
34 Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease Recruiting NCT02040714
35 Study of Modifications of the Composition and Structure in the Aseptic Osteonecrosis of the Femoral Head and Etiopathogenic MRI Correlations Active, not recruiting NCT02733900
36 Hip Fracture in Individuals Under 60 Years of Age: A Prospective Multi-center Study of the Epidemiology, Treatment, Outcome and Patient Satisfaction Regarding Hip Fractures Active, not recruiting NCT03848195
37 Prospective Clinical 5-year Follow-up of the LINK® SP-CL® Hip Prosthesis Stem Active, not recruiting NCT02288117
38 Post-Market Data Collection for Biologically Assisted Core Decompression of the Femoral Head Using the PerFuse Instrument and BioCUE Enrolling by invitation NCT02662881
39 Investigation of the Value of Femoral Shortening Osteotomy During Open Treatment of Developmental Dislocation of the Hip in Waliking Age Group Not yet recruiting NCT02633904
40 The Use of Bisphosphonates in the Treatment of Avascular Necrosis of the Femoral Head Terminated NCT02007915 Pamidronate Disodium
41 Evaluation of the Efficiency of Autologous Bone Marrow no Concentrated to Associate at BMP7 Treatment of Necrosis of the Femoral Head of the Adult Terminated NCT02655120
42 Outcome After Avascular Necrosis of the Femoral Head in Young Patients - Retrospective Analysis With a Min. 10-year Follow-up Withdrawn NCT03753282
43 Non-Interventional Post Market Clinical Follow-up Study Excia T® Cementless EBRA Study Withdrawn NCT02799654

Search NIH Clinical Center for Avascular Necrosis of Femoral Head, Primary, 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Avascular Necrosis of Femoral Head, Primary, 1:
RNL-Astrostem, adipose-derived mesenchymal stem cells for avascular necrosis of the femoral head
Embryonic/Adult Cultured Cells Related to Avascular Necrosis of Femoral Head, Primary, 1:
Adipose-derived mesenchymal stem cells PMIDs: 21303266 24341080

Cochrane evidence based reviews: femur head necrosis

Genetic Tests for Avascular Necrosis of Femoral Head, Primary, 1

Anatomical Context for Avascular Necrosis of Femoral Head, Primary, 1

MalaCards organs/tissues related to Avascular Necrosis of Femoral Head, Primary, 1:

40
Bone, Endothelial, Bone Marrow, Pituitary, Myeloid, Testes, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Avascular Necrosis of Femoral Head, Primary, 1:
# 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 Femoral Head, Primary, 1

Articles related to Avascular Necrosis of Femoral Head, Primary, 1:

(show top 50) (show all 243)
# Title Authors PMID Year
1
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 56 6
21671384 2011
2
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 56 6
15930420 2005
3
Type II Collagen Disorders Overview 6
31021589 2019
4
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 6
17394019 2007
5
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. 56
15179599 2004
6
Osteonecrosis in patients with SLE. 56
12794257 2003
7
Pathogenesis and natural history of osteonecrosis. 56
12430099 2002
8
Total hip replacement in irradiated hips. A retrospective study of 71 cases. 56
7593093 1995
9
Non-traumatic avascular necrosis of the femoral head. 56
7890797 1995
10
Sickle cell disease as a cause of osteonecrosis of the femoral head. 56
1944426 1991
11
Systemic necrotizing vasculitis causing bone necrosis. 56
2897791 1988
12
Identification of potential miRNA biomarkers for traumatic osteonecrosis of femoral head. 61
31951022 2020
13
LncRNA AWPPH participates in the development of non-traumatic osteonecrosis of femoral head by upregulating Runx2. 61
31853285 2020
14
[Study on the distribution of necrotic tissue in steroid-induced osteonecrosis of femoral head patients based on three-dimensional reconstruction of CT]. 61
31939236 2020
15
Correlation between continuation of glucocorticoid treatment and risk of femoral head collapse : A retrospective cohort study of patients with glucocorticoid-induced osteonecrosis of femoral head after hip-preserving interventions. 61
31940055 2020
16
Using personalized 3D printed Titanium sleeve-prosthetic composite for reconstruction of severe segmental bone loss of proximal femur in revision total hip arthroplasty: A case report. 61
32011474 2020
17
Rapid Discovery of Potential Drugs for Osteonecrosis of Femoral Head Based on Gene Expression Omnibus Database and Connectivity Map. 61
31692295 2019
18
Risk factors associated with osteonecrosis of femoral head after internal fixation of femoral neck fracture:a systematic review and meta-analysis. 61
31884960 2019
19
One-stage total hip arthroplasty and "light-bulb" procedure for bilateral non-traumatic osteonecrosis of femoral head in different stages. 61
31856062 2019
20
Analysis of circulating microRNAs aberrantly expressed in alcohol-induced osteonecrosis of femoral head. 61
31831773 2019
21
[Problems and thoughts of preserving femoral head treatment of osteonecrosis of femoral head]. 61
31694125 2019
22
Osteonecrosis of Femoral Head is Associated with Congenital Multiple Pituitary Hormone Deficiency: Report of Three Cases and Literature Review. 61
30966827 2019
23
One-stage total hip arthroplasty and "light-bulb" procedure for bilateral non-traumatic osteonecrosis of femoral head in different stages. 61
31764190 2019
24
Free vascularized iliac bone flap based on deep circumflex iliac vessels graft for the treatment of osteonecrosis of femoral head. 61
31779640 2019
25
Glucocorticoid Enhanced the Expression of Ski in Osteonecrosis of Femoral Head: The Effect on Adipogenesis of Rabbit BMSCs. 61
31359074 2019
26
[Clinical observation of Yishen Huoxue decoction(YSHXD) for the treatment of non-traumatic osteonecrosis of femoral head at early and middle stage]. 61
31870047 2019
27
[Application of preoperative digital-template planning in total hip arthroplasty via direct anterior approach]. 61
31650751 2019
28
Treatment of Femoral Neck Fractures with Cannulated Screw Invasive Internal Fixation Assisted by Orthopaedic Surgery Robot Positioning System. 61
31663277 2019
29
Mid-term outcomes of arthroscopic-assisted Core decompression of Precollapse osteonecrosis of femoral head-minimum of 5 year follow-up. 61
31615502 2019
30
Focused extra-corporeal shockwave treatment during early stage of osteonecrosis of femoral head. 61
31306227 2019
31
Significant association between RETN genetic polymorphisms and alcohol-induced osteonecrosis of femoral head. 61
31207150 2019
32
Huo Xue Tong Luo capsule, a vasoactive herbal formula prevents progression of asymptomatic osteonecrosis of femoral head: A prospective study. 61
31508309 2019
33
Diffusion tensor imaging of the sciatic and femoral nerves in unilateral osteoarthritis of the hip and osteonecrosis of femoral head: Comparison of the affected and normal sides. 61
29862862 2019
34
Comparison of sartorius muscle-pedicle and circumflex iliac deep bone flap grafts in the treatment of early non-traumatic osteonecrosis of femoral head in young adults. 61
31031129 2019
35
Prediction of femoral head avascular necrosis following femoral neck fracture: "pin-tract sign" of 99mTc-HDP pinhole bone scan after metallic fixation. 61
31280602 2019
36
Radiographic evaluation of linear wear of bipolar hemiarthroplasty devices in vivo. 61
31316231 2019
37
[Clinical study for preoperative traction on impact of osteonecrosis of femoral head in patients with femoral neck fractures]. 61
31197991 2019
38
[Extracorporeal shockwave therapy for osteonecrosis of femoral head: traps and challenges]. 61
31197988 2019
39
Huo Xue Tong Luo capsule ameliorates osteonecrosis of femoral head through inhibiting lncRNA-Miat. 61
30970282 2019
40
Porous, lithium-doped calcium polyphosphate composite scaffolds containing vascular endothelial growth factor (VEGF)-loaded gelatin microspheres for treating glucocorticoid-induced osteonecrosis of the femoral head. 61
30802884 2019
41
Long-term outcomes of Phemister bone grafting for patients with non-traumatic osteonecrosis of the femoral head. 61
29916000 2019
42
Elevated plasma cartilage oligomeric matrix protein (COMP) level are associated with the progression of non-traumatic osteonecrosis of femoral head. 61
30217750 2019
43
Grafting, Stripping and Stapling of Helical Peptides from the Dimerization Interface of ONFH-Related Bone Morphogenetic Protein-2. 61
30604108 2019
44
The Role of Immune Regulatory Cells in Nontraumatic Osteonecrosis of the Femoral Head: A Retrospective Clinical Study. 61
31828086 2019
45
Bone-strengthening supplement (BSP) promotes bone and cartilage repair, for the treatment of Osteonecrosis of Femoral Head: an MRI-based study. 61
31934292 2019
46
CircUSP45 inhibited osteogenesis in glucocorticoid-induced osteonecrosis of femoral head by sponging miR-127-5p through PTEN/AKT signal pathway: Experimental studies. 61
30579595 2019
47
Outcomes for core decompression with multiple drilling of the osteonecrosis of the femoral head in patients with solid organ transplantation. 61
30376800 2018
48
Impact of acetabular reaming depth on reconstruction of rotation center in primary total hip arthroplasty. 61
30497444 2018
49
Using Naive Bayes Classifier to predict osteonecrosis of the femoral head with cannulated screw fixation. 61
30097310 2018
50
The Glycosaminoglycan Content of Hip Cartilage in Osteonecrosis of Femoral Head: Evaluation with Delayed Gadolinium-Enhanced Magnetic Resonance Imaging of Cartilage. 61
30282478 2018

Variations for Avascular Necrosis of Femoral Head, Primary, 1

ClinVar genetic disease variations for Avascular Necrosis of Femoral Head, Primary, 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
2 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
3 COL2A1 NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)SNV Pathogenic 17393 rs121912891 12:48369835-48369835 12:47976052-47976052
4 COL2A1 NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser)SNV Pathogenic 17394 rs387906558 12:48376675-48376675 12:47982892-47982892
5 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
6 COL2A1 NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)SNV Conflicting interpretations of pathogenicity 29637 rs138498898 12:48368041-48368041 12:47974258-47974258
7 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)SNV Conflicting interpretations of pathogenicity 308931 rs142770543 12:48388220-48388220 12:47994437-47994437
8 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)SNV Uncertain significance 547841 rs886042009 12:48374344-48374344 12:47980561-47980561

UniProtKB/Swiss-Prot genetic disease variations for Avascular Necrosis of Femoral Head, Primary, 1:

73
# 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

Expression for Avascular Necrosis of Femoral Head, Primary, 1

Search GEO for disease gene expression data for Avascular Necrosis of Femoral Head, Primary, 1.

Pathways for Avascular Necrosis of Femoral Head, Primary, 1

Pathways related to Avascular Necrosis of Femoral Head, Primary, 1 according to KEGG:

36
# Name Kegg Source Accession
1 HIF-1 signaling pathway hsa04066
2 VEGF signaling pathway hsa04370

GO Terms for Avascular Necrosis of Femoral Head, Primary, 1

Sources for Avascular Necrosis of Femoral Head, Primary, 1

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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