ANFH1
MCID: AVS006
MIFTS: 42

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

Categories: Blood diseases, Bone 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 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. 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:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 avascular necrosis of femoral head, primary, 2 12.1
2 familial avascular necrosis of the femoral head 11.4
3 sickle cell disease 10.7
4 traumatic avascular necrosis 10.6
5 arthritis 10.4
6 idiopathic avascular necrosis 10.4
7 gout 10.3
8 bursitis 10.3
9 slipped capital femoral epiphysis 10.3
10 multiple sclerosis 10.2
11 prostate cancer 10.2
12 rheumatoid arthritis 10.2
13 leukemia, acute lymphoblastic 10.2
14 leukemia 10.2
15 lymphoma 10.2
16 lymphocytic leukemia 10.2
17 chondrocalcinosis 10.2
18 conn's syndrome 10.2
19 systemic lupus erythematosus 10.1
20 lupus erythematosus 10.1
21 hypoxia 10.1
22 spondyloarthropathy 1 10.1
23 legg-calve-perthes disease 10.1
24 metachondromatosis 10.1
25 pityriasis rubra pilaris 10.1
26 scleroderma, familial progressive 10.1
27 trichorhinophalangeal syndrome, type i 10.1
28 familial mediterranean fever 10.1
29 neuroblastoma 10.1
30 tropical calcific pancreatitis 10.1
31 leukemia, chronic myeloid 10.1
32 graft-versus-host disease 10.1
33 acute leukemia 10.1
34 cerebral palsy 10.1
35 diabetes mellitus 10.1
36 male infertility 10.1
37 spinal stenosis 10.1
38 fibrous dysplasia 10.1
39 osteomalacia 10.1
40 brucellosis 10.1
41 sarcoma 10.1
42 pituitary apoplexy 10.1
43 renal osteodystrophy 10.1
44 antiphospholipid syndrome 10.1
45 ischemia 10.1
46 infertility 10.1
47 spondylitis 10.1
48 septic arthritis 10.1
49 myeloid leukemia 10.1
50 psoriasis 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

Symptoms via clinical synopsis from OMIM:

57
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

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

Search Clinical Trials , 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:

41
Bone, Bone Marrow, Endothelial, Heart, Prostate, Myeloid, 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 418)
# Title Authors Year
1
Risk of avascular necrosis of the femoral head in children with sickle cell disease on hydroxyurea: MRI evaluation. ( 30345708 )
2018
2
Effect of surgical treatment on the quality of life in patients with non-traumatic avascular necrosis of the femoral head. ( 30377614 )
2018
3
The application of PRP combined with TCP in repairing avascular necrosis of the femoral head after femoral neck fracture in rabbit. ( 29509236 )
2018
4
Clinical and Radiographic Alterations in Bilateral Avascular Necrosis of the Femoral Head Following Laser Acupuncture: A Case Report. ( 30026902 )
2018
5
Factors associated with the development of avascular necrosis of the femoral head after non-displaced femoral neck fracture treated with internal fixation. ( 30213472 )
2018
6
Bisphosphonate Combination Therapy in the Management of Postchemotherapy Avascular Necrosis of the Femoral Head in Adolescents and Young Adults: A Retrospective Study From India. ( 30241233 )
2018
7
Correction to: Regenerative therapies increase survivorship of avascular necrosis of the femoral head: a systematic review and meta-analysis. ( 30294752 )
2018
8
Effects of  transplantation of FGF-2-transfected MSCs and XACB on TNF-α expression with avascular necrosis of the femoral head in rabbits. ( 30377228 )
2018
9
Beneficial contribution of a safflower (Carthamus tinctorius L.) polysaccharide on steroid-induced avascular necrosis of the femoral head in rats. ( 30419325 )
2018
10
Autologous stem cell implantation with core decompression for avascular necrosis of the femoral head. ( 30449983 )
2018
11
Real-World Database Examining the Association Between Avascular Necrosis of the Femoral Head and Diabetes in Taiwan. ( 30487230 )
2018
12
Downregulating STAT1/caspase-3 signaling with fludarabine to alleviate progression in a rat model of steroid-induced avascular necrosis of the femoral head. ( 30506661 )
2018
13
Low rate of clinically important avascular necrosis of the femoral head after Ludloff's procedure. ( 29027184 )
2018
14
MicroRNA‑206 contributes to the progression of steroid‑induced avascular necrosis of the femoral head by inducing osteoblast apoptosis by suppressing programmed cell death 4. ( 29115490 )
2018
15
Naringin protects against steroid‑induced avascular necrosis of the femoral head through upregulation of PPARγ and activation of the Notch signaling pathway. ( 29257271 )
2018
16
Salidroside inhibits steroid-induced avascular necrosis of the femoral head via the PI3K/Akt signaling pathway: In vitro and in vivo studies. ( 29286130 )
2018
17
Bone mesenchymal stem cells co-expressing VEGF and BMP-6 genes to combat avascular necrosis of the femoral head. ( 29399103 )
2018
18
Regenerative therapies increase survivorship of avascular necrosis of the femoral head: a systematic review and meta-analysis. ( 29411077 )
2018
19
A metabolomic study on early detection of steroid-induced avascular necrosis of the femoral head. ( 29487708 )
2018
20
Femoral head wedge resection for the treatment of avascular necrosis of the femoral head after pediatric femoral neck fracture: a case report. ( 29570157 )
2018
21
Effects of platelet-rich plasma on angiogenesis and osteogenesis-associated factors in rabbits with avascular necrosis of the femoral head. ( 29687874 )
2018
22
COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. ( 29750297 )
2018
23
Core decompression and biotechnologies in the treatment of avascular necrosis of the femoral head. ( 28461967 )
2017
24
Correction: Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 28503471 )
2017
25
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
26
Role of mesenchymal stem cells on differentiation in steroid-induced avascular necrosis of the femoral head. ( 28352349 )
2017
27
Comparison of Outcomes of Total Hip Arthroplasty between Patients with Ankylosing Spondylitis and Avascular Necrosis of the Femoral Head. ( 28861192 )
2017
28
Avascular necrosis of the femoral head in patients treated for leukaemia. Assessment of the need for a diagnostic protocol. ( 28728961 )
2017
29
Overactivated autophagy contributes to steroid-induced avascular necrosis of the femoral head. ( 28672940 )
2017
30
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
31
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
32
Autologous Stem Cells Combined Core Decompression for Treatment of Avascular Necrosis of the Femoral Head: A Systematic Meta-Analysis. ( 28840126 )
2017
33
Bilateral avascular necrosis of the femoral head following asynchronous postictal femoral neck fractures: a case report and review of the literature. ( 28368928 )
2017
34
Avascular Necrosis of the Femoral Head. ( 28107304 )
2017
35
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
36
Avascular Necrosis of the Femoral Head. ( 28107303 )
2017
37
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
38
The role of electrical stimulation in the management of avascular necrosis of the femoral head in adults: a systematic review. ( 28754159 )
2017
39
Risk Stratification for Avascular Necrosis of the Femoral Head After Internal Fixation of Femoral Neck Fractures by Post-Operative Bone SPECT/CT. ( 28250858 )
2017
40
Bilateral Avascular Necrosis of the Femoral Head in Fibrous Dysplasia. ( 30283878 )
2017
41
MiR-145 silencing promotes steroid-induced avascular necrosis of the femoral head repair via upregulating VEGF. ( 28975994 )
2017
42
Cortisol inhibits mTOR signaling in avascular necrosis of the femoral head. ( 29047405 )
2017
43
Modifications to advanced Core decompression for treatment of Avascular necrosis of the femoral head. ( 29162080 )
2017
44
Avascular Necrosis of the Femoral Head. ( 29286832 )
2017
45
The physiopathology of avascular necrosis of the femoral head: an update. ( 28040082 )
2016
46
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
47
Avascular necrosis of the femoral head at 2 years after pertrochanteric fracture surgery: Case report. ( 26900462 )
2016
48
Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 27847717 )
2016
49
Core Decompression Augmented With Autologous Bone Marrow Aspiration Concentrate for Early Avascular Necrosis of the Femoral Head. ( 27656386 )
2016
50
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

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
5 COL2A1 NM_001844.4(COL2A1): c.4148C> T (p.Thr1383Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138498898 GRCh37 Chromosome 12, 48368041: 48368041
6 COL2A1 NM_001844.4(COL2A1): c.4148C> T (p.Thr1383Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138498898 GRCh38 Chromosome 12, 47974258: 47974258
7 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
8 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

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
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