MCID: AVS006
MIFTS: 42

Avascular Necrosis of Femoral Head, Primary, 1

Categories: Genetic diseases, Bone 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 57 75 38
Avascular Necrosis of the Femoral Head 57 38 13
Avascular Necrosis of Femoral Head 75 37
Ischemic Necrosis of Femoral Head 57 75
Osteonecrosis of Femoral Head 57 75
Femur Head Necrosis 44 73
Anfh1 57 75
Femoral Head, Avascular Necrosis of; Anfh 57
Femoral Head, Avascular Necrosis of 57
Femoral Head, Aseptic Necrosis of 57
Necrosis, Avascular, Femoral Head 40
Aseptic Necrosis of Femoral Head 75
Avascular Necrosis of Femur Head 73
Anfh 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
avascular necrosis of femoral head, primary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608805
MedGen 42 C0410480
MeSH 44 D005271
KEGG 37 H01529

Summaries for Avascular Necrosis of Femoral Head, Primary, 1

OMIM : 57 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)

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 Anesthetics and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are avascular necrosis of the capital femoral epiphysis and generalized osteoporosis

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 avascular necrosis of femoral head, primary, 2 12.5
2 familial avascular necrosis of the femoral head 11.2
3 osteonecrosis 10.6
4 systemic lupus erythematosus 10.0
5 lupus erythematosus 10.0
6 hypoxia 10.0
7 thrombophilia 9.9
8 femoral neuropathy 9.9
9 neuropathy 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
generalized osteoporosis (in some patients)

Skeletal Pelvis:
degeneration of hip joint
narrowing of joint space

Skeletal Spine:
mild scoliosis (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

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

32
# Description HPO Frequency HPO Source Accession
1 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
2 generalized osteoporosis 32 occasional (7.5%) HP:0040160

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 all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 4,Phase 2
2
Zoledronic acid Approved Phase 3 118072-93-8 68740
3
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
5 Diphosphonates Phase 3,Not Applicable
6 Bone Density Conservation Agents Phase 3,Not Applicable
7 Calcium, Dietary Phase 3
8 Analgesics Phase 3
9 Fibrinolytic Agents Phase 3
10 Cyclooxygenase Inhibitors Phase 3
11 Analgesics, Non-Narcotic Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Platelet Aggregation Inhibitors Phase 3
14 Anti-Inflammatory Agents Phase 3
15 Antipyretics Phase 3
16 Anti-Inflammatory Agents, Non-Steroidal Phase 3
17 Antirheumatic Agents Phase 3
18
Tranexamic Acid Approved Not Applicable 1197-18-8 5526
19
Pamidronate Approved Not Applicable 40391-99-9 4674
20 Coagulants Not Applicable
21 Hemostatics Not Applicable
22 Pharmaceutical Solutions Not Applicable
23 Antifibrinolytic Agents Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Ultra-Short Anatomic and Conventional Cementless Stems Cementless Stems in Patients Younger Than Fifty-Five Years Old Completed NCT02338596 Phase 4
2 Implantation of Bone Marrow Cells to Treat Avascular Necrosis of Femoral Head (ANFH) Unknown status NCT01613612 Phase 2, Phase 3
3 Efficacy of Zoledronic Acid in Preventing Collapse of the Osteonecrotic Femoral Head Completed NCT00939900 Phase 3 zoledronic acid (aclasta)
4 Aspirin in the Prevention of Collapse in Osteonecrosis of the Hip Recruiting NCT03405974 Phase 3 Aspirin;Placebo
5 Randomized Clinical Trial for the Treatment of Osteonecrosis of the Femoral Head Active, not recruiting NCT01892514 Phase 3
6 Autologous Osteoblastic Cells Implantation to Early Stage Osteonecrosis of the Femoral Head Completed NCT02890537 Phase 2 Core decompression/PREOB® implantation;Core decompression/BMC implantation
7 Mesenchymal Stem Cells in Osteonecrosis of the Femoral Head Active, not recruiting NCT01605383 Phase 1, Phase 2
8 Evaluation of Mesenchymal Stem Cells to Treat Avascular Necrosis of the Hip Active, not recruiting NCT02065167 Phase 2
9 The Study of Early Stage Osteonecrosis of Femoral Head With Human Umbilical Cord Mesenchymal Stem Cells Not yet recruiting NCT03180463 Phase 1, Phase 2 Allogeneic umbilical cord mesenchymal stem cells (SCLnow 19#)
10 Evaluate the Effect of Bone Marrow Derived Cd133+ Cells in Patient With Osteonecrosis of Femoral Head Completed NCT01198080 Phase 1
11 Transcription Factor Runx2 in Necrotic Femoral Head Tissue Completed NCT02735538
12 Rotational Thromboelastography Study in Tranexamic Acid and Colloid Infusion Completed NCT02146456 Not Applicable Tranexamic Acid
13 Selective Ultrasound Screening for DDH 1991-2006 Completed NCT01866527
14 Ultrasound Screening for Developmental Dysplasia of the Hip in Newborns Completed NCT01818934 Not Applicable
15 The Use of Bisphosphonates in the Treatment of Avascular Necrosis of the Femoral Head Terminated NCT02007915 Not Applicable Pamidronate Disodium

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
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:

41
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 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 384)
# Title Authors Year
1
Core decompression and biotechnologies in the treatment of avascular necrosis of the femoral head. ( 28461967 )
2017
2
Correction: Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 28503471 )
2017
3
Different Recipient Vessels for Free Microsurgical Fibula Flaps in the Treatment of Avascular Necrosis of the Femoral Head: A Systematic Review and Meta-analysis. ( 28671884 )
2017
4
Role of mesenchymal stem cells on differentiation in steroid-induced avascular necrosis of the femoral head. ( 28352349 )
2017
5
Comparison of Outcomes of Total Hip Arthroplasty between Patients with Ankylosing Spondylitis and Avascular Necrosis of the Femoral Head. ( 28861192 )
2017
6
Avascular necrosis of the femoral head in patients treated for leukaemia. Assessment of the need for a diagnostic protocol. ( 28728961 )
2017
7
Overactivated autophagy contributes to steroid-induced avascular necrosis of the femoral head. ( 28672940 )
2017
8
Long-term Outcome of Multiple Small-diameter Drilling Decompression Combined with Hip Arthroscopy versus Drilling Alone for Early Avascular Necrosis of the Femoral Head. ( 28584206 )
2017
9
Fludarabine inhibits STAT1-mediated up-regulation of caspase-3 expression in dexamethasone-induced osteoblasts apoptosis and slows the progression of steroid-induced avascular necrosis of the femoral head in rats. ( 28601953 )
2017
10
Autologous Stem Cells Combined Core Decompression for Treatment of Avascular Necrosis of the Femoral Head: A Systematic Meta-Analysis. ( 28840126 )
2017
11
Bilateral avascular necrosis of the femoral head following asynchronous postictal femoral neck fractures: a case report and review of the literature. ( 28368928 )
2017
12
Avascular Necrosis of the Femoral Head. ( 28107304 )
2017
13
The correlation between Salter's criteria for avascular necrosis of the femoral head and Kalamchi's prognostic classification following the treatment of developmental dysplasia of the hip. ( 28768791 )
2017
14
Avascular Necrosis of the Femoral Head. ( 28107303 )
2017
15
The impact of high total cholesterol and high low-density lipoprotein on avascular necrosis of the femoral head in low-energy femoral neck fractures. ( 28212664 )
2017
16
The role of electrical stimulation in the management of avascular necrosis of the femoral head in adults: a systematic review. ( 28754159 )
2017
17
Risk Stratification for Avascular Necrosis of the Femoral Head After Internal Fixation of Femoral Neck Fractures by Post-Operative Bone SPECT/CT. ( 28250858 )
2017
18
The physiopathology of avascular necrosis of the femoral head: an update. ( 28040082 )
2016
19
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
20
Avascular necrosis of the femoral head at 2 years after pertrochanteric fracture surgery: Case report. ( 26900462 )
2016
21
Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 27847717 )
2016
22
Core Decompression Augmented With Autologous Bone Marrow Aspiration Concentrate for Early Avascular Necrosis of the Femoral Head. ( 27656386 )
2016
23
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
24
Effects of Focused Extracorporeal Shock Waves on Bone Marrow Mesenchymal Stem Cells in Patients with Avascular Necrosis of the Femoral Head. ( 26674675 )
2016
25
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
26
Bone Marrow Aspirate Concentrate in Combination With Intravenous Iloprost Increases Bone Healing in Patients With Avascular Necrosis of the Femoral Head: A Matched Pair Analysis. ( 28507661 )
2016
27
Incidence of Avascular Necrosis of the Femoral Head After Intramedullary Nailing of Femoral Shaft Fractures: A Multicenter Retrospective Analysis of 542 Cases. ( 26844518 )
2016
28
Quality of Life in Pediatric Patients with Avascular Necrosis of the Femoral Head. ( 28102156 )
2016
29
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
30
Avascular Necrosis of the Femoral Head After Palliative Radiotherapy in Metastatic Prostate Cancer: Absence of a Dose Threshold? ( 27081582 )
2016
31
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
32
Early treatment with the von Rosen splint for neonatal instability of the hip is safe regarding avascular necrosis of the femoral head. ( 26730503 )
2016
33
Total hip arthroplasty after failed curved intertrochanteric varus osteotomy for avascular necrosis of the femoral head. ( 27019530 )
2016
34
Bilateral avascular necrosis of the femoral head following treatment of Ewing's sarcoma. ( 26586407 )
2016
35
Effects of hypoxia on osteogenic differentiation of mesenchymal stromal cells used as a cell therapy for avascular necrosis of the femoral head. ( 27421741 )
2016
36
Role of Ayurveda in the conservative management of avascular necrosis of the femoral head: A case study. ( 27143802 )
2016
37
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
38
Transtrochanteric rotational osteotomy for avascular necrosis of the femoral head after unstable slipped capital femoral epiphysis: 10-year clinical results. ( 27461924 )
2016
39
Impaired osteogenic differentiation associated with connexin43/microRNA-206 in steroid-induced avascular necrosis of the femoral head. ( 27450649 )
2016
40
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
41
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
42
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
43
Evaluation of the stability of reference genes in bone mesenchymal stem cells from patients with avascular necrosis of the femoral head. ( 27323096 )
2016
44
Roles of osteocyte apoptosis in steroid-induced avascular necrosis of the femoral head. ( 27050956 )
2016
45
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
46
Nitric oxide content and apoptosis rate in steroid-induced avascular necrosis of the femoral head. ( 26622359 )
2015
47
Avascular Necrosis of the Femoral Head Masquerading as Iliopsoas Bursitis: Imaging With Ultrasound and Magnetic Resonance. ( 26418490 )
2015
48
Geometric analysis of an expandable reamer for treatment of avascular necrosis of the femoral head. ( 26185054 )
2015
49
A steroid-induced bilateral avascular necrosis of the femoral head in an underage patient affected by multiple sclerosis. ( 26811707 )
2015
50
Avascular Necrosis of the Femoral Head: Are Any Genes Involved? ( 26213697 )
2015

Variations for Avascular Necrosis of Femoral Head, Primary, 1

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

75
# 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 Femoral Head, Primary, 1:

6
# 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.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh38 Chromosome 12, 47976052: 47976052
3 COL2A1 NM_001844.4(COL2A1): c.2149G> A (p.Gly717Ser) single nucleotide variant Pathogenic rs387906558 GRCh37 Chromosome 12, 48376675: 48376675
4 COL2A1 NM_001844.4(COL2A1): c.2149G> A (p.Gly717Ser) single nucleotide variant Pathogenic rs387906558 GRCh38 Chromosome 12, 47982892: 47982892

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:

37
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....