MCID: AVS004
MIFTS: 54

Avascular Necrosis of the Femoral Head malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Avascular Necrosis of the Femoral Head

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MalaCards based summary: Avascular Necrosis of the Femoral Head, also known as primary avascular necrosis of the femoral head, is related to arthritis and rheumatoid arthritis, and has symptoms including autosomal dominant inheritanceand 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), and among its related pathways are Fat digestion and absorption and Selected targets of HNF1. The compounds polyethylene glycol 6000 and maxepa have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and bone marrow, and related mouse phenotypes are cardiovascular system and vision/eye.

Description from OMIM:45 608805

Aliases & Classifications for Avascular Necrosis of the Femoral Head

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Avascular Necrosis of the Femoral Head, Aliases & Descriptions:

Name: Avascular Necrosis of the Femoral Head 45 30 10
Primary Avascular Necrosis of the Femoral Head 20
 
Avascular Necrosis of Femoral Head, Primary 45
Avascular Necrosis of Femur Head 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

OMIM45 608805

Related Diseases for Avascular Necrosis of the Femoral Head

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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 109)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.0HLA-DRB1, COL2A1, LEP
2rheumatoid arthritis30.9COL2A1, APOA1, HLA-DRB1
3male infertility30.8SOD1, CAT
4sickle cell disease11.0
5familial avascular necrosis of the femoral head10.9
6traumatic avascular necrosis10.9
7leukemia10.8
8systemic lupus erythematosus10.7
9lupus erythematosus10.7
10endotheliitis10.7
11idiopathic avascular necrosis10.7
12osteoarthritis10.7
13bursitis10.6
14lymphoblastic leukemia10.6
15periostitis10.6
16slipped capital femoral epiphysis10.6
17back pain10.6
18chylomicron retention disease10.5APOB
19diabetic cataract10.5CAT
20rabson-mendenhall syndrome10.4IGFBP3
21eye disease10.4CAT
22prostate cancer10.4
23trichorhinophalangeal syndrome, type i10.4
24legg-calve-perthes disease10.4
25metachondromatosis10.4
26neuroblastoma10.4
27hiv-110.4
28acute leukemia10.4
29spinal stenosis10.4
30antiphospholipid syndrome10.4
31pituitary apoplexy10.4
32osteomalacia10.4
33septic arthritis10.4
34infertility10.4
35gout10.4
36renal osteodystrophy10.4
37brucellosis10.4
38ischemia10.4
39myeloid leukemia10.4
40prostatitis10.4
41psoriasis10.4
42scleroderma10.4
43pandas10.4
44hypermethioninemia10.4SOD1
45arcus senilis10.4APOB, APOA1
46norum disease10.4APOA1, APOB
47hypertriglyceridemia10.3APOB, APOA1
48hypobetalipoproteinemia10.3APOB, APOA1
49hyperlipidemia type 310.3APOA1, APOB
50peripheral vascular disease10.3APOA1, APOB

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 for Avascular Necrosis of the Femoral Head

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Clinical features from OMIM:

608805

HPO human phenotypes related to Avascular Necrosis of the Femoral Head:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 avascular necrosis of the capital femoral epiphysis HP:0005743

Drugs & Therapeutics for Avascular Necrosis of the Femoral Head

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Drug clinical trials:

Search ClinicalTrials for Avascular Necrosis of the Femoral Head

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

Genetic Tests for Avascular Necrosis of the Femoral Head

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Genetic tests related to Avascular Necrosis of the Femoral Head:

id Genetic test Affiliating Genes
1 Avascular Necrosis of Femoral Head, Primary20 COL2A1

Anatomical Context for Avascular Necrosis of the Femoral Head

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

31
Bone, Endothelial, Bone marrow, Heart, Myeloid, Lymph node, Breast, 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 TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Avascular Necrosis of the Femoral Head or affiliated genes

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0LEP, APOA1, APOB, SOD1, COL2A1
2MP:00053917.7LEP, APOB, SOD1, SREBF2, COL2A1
3MP:00107687.4CAT, COL2A1, SREBF2, SOD1, APOB, LEP
4MP:00053707.0COL2A1, IGFBP3, LEP, APOA1, APOB, SOD1
5MP:00053766.9IGFBP3, LEP, APOA1, APOB, SOD1, SREBF2

Publications for Avascular Necrosis of the Femoral Head

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Articles related to Avascular Necrosis of the Femoral Head:

(show top 50)    (show all 326)
idTitleAuthorsYear
1
Cotransplantation of bone marrow mononuclear cells and umbilical cord mesenchymal stem cells in avascular necrosis of the femoral head. (24507042)
2014
2
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
3
MDR1 Gene Polymorphisms Are Associated with Glucocorticoid-Induced Avascular Necrosis of the Femoral Head in a Chinese Population. (24387690)
2014
4
Trabecular metal screw implanted for avascular necrosis of the femoral head may complicate subsequent arthroplasty surgery. (23860809)
2013
5
Long-term results of 32-mm alumina-on-alumina THA for avascular necrosis of the femoral head. (22249776)
2012
6
Association of sterol regulatory element binding protein 2 and insulin-like growth factor binding protein 3 genetic polymorphisms with avascular necrosis of the femoral head in the Chinese population. (23158139)
2012
7
Macroscopic and microscopic findings in avascular necrosis of the femoral head. (22990546)
2012
8
In brief: Ficat classification: avascular necrosis of the femoral head. (22760600)
2012
9
Genetic traits of avascular necrosis of the femoral head analyzed by array comparative genomic hybridization and real-time polymerase chain reaction. (21210629)
2011
10
Coincidence of avascular necrosis of the femoral head and unstable intertrochanteric fracture: is an extensively coated cementless revision stem a reasonable choice? (21206291)
2011
11
Avascular necrosis of the femoral head in patients with Hodgkin's disease. (21157752)
2010
12
Effect of antler extract on corticosteroid-induced avascular necrosis of the femoral head in rats. (19818844)
2010
13
Avascular necrosis of the femoral head following intramedullary nailing of the femur in a skeletally mature young adult: a case report. (18716697)
2008
14
Avascular necrosis of the femoral head in sickle cell disease in Nigeria: a retrospective study. (17767206)
2007
15
Avascular necrosis of the femoral head 8 years after posterior hip dislocation. (17316640)
2007
16
Prediction of avascular necrosis of the femoral head by measuring intramedullary oxygen tension after femoral neck fracture. (17762476)
2007
17
Avascular necrosis of the femoral head as the first manifestation of acute lymphoblastic leukemia. (16502568)
2006
18
Hyperbaric oxygen therapy as a treatment for stage-I avascular necrosis of the femoral head. (14765887)
2004
19
Deceptive low back pain and pseudoradicular signs in avascular necrosis of the femoral head. (17618211)
2004
20
Avascular necrosis of the femoral head in a HIV-1 infected patient receiving lopinavir/ritonavir. (14659664)
2003
21
Prognosis of early stage avascular necrosis of the femoral head. (9973986)
1999
22
Avascular necrosis of the femoral head after intertrochanteric fractures. (9892118)
1999
23
Changes on magnetic resonance images after traumatic avascular necrosis of the femoral head. (10342352)
1999
24
No link between avascular necrosis of the femoral head and antiphospholipid antibodies. (9513610)
1997
25
Avascular necrosis of the femoral head after intramedullary nailing of a femoral shaft fracture in a male adolescent. (9210128)
1997
26
Diagnostic patterns for bone marrow oedema syndrome and avascular necrosis of the femoral head in dynamic bone scintigraphy. (9481765)
1997
27
Is avascular necrosis of the femoral head the result of inhibition of angiogenesis? (9466372)
1997
28
Vascularized pedicle bone-grafting for nontraumatic avascular necrosis of the femoral head. A 5- to 11-year follow-up. (9177798)
1997
29
Vascularized iliac bone graft for avascular necrosis of the femoral head. (9137185)
1997
30
Long-term follow-up of avascular necrosis of the femoral head in the dog. (8642794)
1996
31
Non-traumatic avascular necrosis of the femoral head. (7890797)
1995
32
Diagnosis of avascular necrosis of the femoral head in patients treated for lymphoma. (7622143)
1995
33
Avascular necrosis of the femoral head after closed intramedullary shortening in an adolescent. (7883921)
1995
34
Imaging study on the mode of development and changes in avascular necrosis of the femoral head in systemic lupus erythematosus: long-term observations. (8156306)
1994
35
Transtrochanteric anterior rotational osteotomy for avascular necrosis of the femoral head. Long-term results. (8331115)
1993
36
Intertrochanteric osteotomy and autogenous bone-grafting for avascular necrosis of the femoral head. (8354670)
1993
37
Bipolar prosthetic replacement for the treatment of avascular necrosis of the femoral head. (1555332)
1992
38
Iliac periosteal graft with vascular pedicle in the treatment of avascular necrosis of the femoral head. Experimental study and clinical application. (1291204)
1992
39
Magnetic resonance imaging and scintigraphy of avascular necrosis of the femoral head. Prediction of subsequent segmental collapse. (1555357)
1992
40
Detection of acute avascular necrosis of the femoral head in dogs: dynamic contrast-enhanced MR imaging vs spin-echo and STIR sequences. (1442396)
1992
41
Natural history of nontraumatic avascular necrosis of the femoral head. (1991778)
1991
42
Core decompression for avascular necrosis of the femoral head: correlation between long-term results and preoperative MR staging. (2326478)
1990
43
Avascular necrosis of the femoral head. (2522435)
1989
44
Avascular necrosis of the femoral head: morphologic assessment by MR imaging, with CT correlation. (3786725)
1986
45
Consequences of avascular necrosis of the femoral head in aluminium-related renal osteodystrophy and the role of endochondral ossification in the repair process. (6402524)
1983
46
Haematological factors associated with avascular necrosis of the femoral head in homozygous sickle cell disease. (6173057)
1982
47
Corticosteroids and avascular necrosis of the femoral head in childhood. (1222002)
1975
48
Avascular necrosis of the femoral head in patients on chronic hemodialysis. (4610967)
1972
49
A histological study of avascular necrosis of the femoral head after transcervical fracture. (5846780)
1965
50
Avascular necrosis of the femoral head associated with sickle cell trait (AS hemoglobin). (14490507)
1962

Variations for Avascular Necrosis of the Femoral Head

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

62
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly717SerVAR_023929
2COL2A1p.Gly1170SerVAR_023933

Expression for genes affiliated with Avascular Necrosis of the Femoral Head

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

Pathways for genes affiliated with Avascular Necrosis of the Femoral Head

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8APOA1, APOB
29.8APOB, APOA1
3
Show member pathways
9.8APOB, APOA1
4
Show member pathways
9.8APOB, APOA1
5
Show member pathways
9.8APOB, APOA1
6
Show member pathways
FOXA transcription factor networks36
9.5SOD1, APOB
7
Show member pathways
Amyotrophic lateral sclerosis (ALS)36
9.4CAT, SOD1
89.4CAT, SOD1
9
Show member pathways
9.4CAT, SOD1
109.4SOD1, CAT
11
Show member pathways
9.4SOD1, CAT
12
Show member pathways
Vitamin B12 Metabolism36
9.1CAT, SOD1, APOA1
13
Show member pathways
8.8SREBF2, APOA1, LEP
14
Show member pathways
thioredoxin pathway36
8.7CAT, SOD1, APOB, APOA1

Compounds for genes affiliated with Avascular Necrosis of the Femoral Head

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

(show top 50)    (show all 163)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol 60004310.1APOB, APOA1
2maxepa4310.1APOA1, APOB
3lynestrenol4310.0APOB, APOA1
4bathocuproine439.8CAT, SOD1
5u 83836e439.8SOD1, CAT
6fpl 55712439.8SOD1, CAT
7nickel carbonate hydroxide439.8SOD1, CAT
8ciprofibrate43 2810.8APOB, APOA1, CAT
91,3-dimethyl-2-thiourea439.7CAT, SOD1
10fructosamine43 2410.7APOA1, APOB, IGFBP3
11acipimox43 2810.6LEP, APOA1, APOB
12intralipid439.6LEP, APOA1, APOB
13tibolone439.6APOA1, LEP, APOB
14levonorgestrel43 59 28 1212.6APOB, APOA1, IGFBP3
15n-(2-mercaptopropionyl)glycine439.5CAT, SOD1
16colestipol439.5APOB, APOA1
17alpha-phenyl-n-tert-butylnitrone439.4SOD1, CAT
18ionol439.4CAT, SOD1
1925-hydroxyvitamin d439.4IGFBP3, LEP, APOA1
20dextran sulfate439.3APOA1, IGFBP3, APOB
21dmpo-oh439.3SOD1, CAT
228-isoprostane439.3CAT, SOD1, LEP
23clonidine43 49 28 1212.2APOA1, LEP, IGFBP3
24silymarin439.2SOD1, CAT, IGFBP3
25probucol43 1210.2APOB, SOD1, CAT, APOA1
26tocopherol439.2APOB, SOD1, CAT, APOA1
27chloramphenicol43 2 49 1212.2APOB, CAT, IGFBP3, COL2A1
28l-nmma439.1LEP, SOD1, CAT
29thyroxine43 2410.1IGFBP3, APOA1, LEP, APOB
30tamoxifen43 49 28 1211.9IGFBP3, APOB, LEP, APOA1
31fenofibrate43 49 1210.8LEP, SREBF2, APOA1, APOB
32triacylglycerol438.8APOB, SREBF2, APOA1, LEP
33pravastatin43 49 28 24 1212.8APOB, SREBF2, APOA1, LEP
34indomethacin43 28 59 1211.8SOD1, CAT, LEP, APOA1
35cycloheximide438.7LEP, IGFBP3, APOB, CAT, COL2A1
36dexamethasone43 49 28 1211.7COL2A1, IGFBP3, APOA1, APOB, LEP
37uric acid43 249.6CAT, APOB, APOA1, LEP, SOD1
38lactate438.6CAT, IGFBP3, APOA1, APOB, SOD1
39h2o2438.6APOA1, CAT, LEP, SOD1, APOB
40betacarotene438.5IGFBP3, LEP, APOB, SOD1, CAT
41creatinine438.5SOD1, LEP, IGFBP3, APOB, APOA1
42cholesterol43 28 24 1211.2IGFBP3, SREBF2, APOB, APOA1, LEP
43ascorbic acid43 249.2CAT, COL2A1, SOD1, LEP, IGFBP3, APOA1
44alpha tocopherol438.1IGFBP3, SOD1, APOB, APOA1, LEP, CAT
45vitamin a43 24 1210.1CAT, APOB, SOD1, APOA1, LEP, IGFBP3
46glutamate438.0HLA-DRB1, LEP, APOA1, APOB, SOD1, IGFBP3
47cysteine437.7IGFBP3, CAT, COL2A1, SREBF2, SOD1, LEP
48arginine437.6SREBF2, COL2A1, IGFBP3, HLA-DRB1, LEP, SOD1
49lipid437.5SREBF2, SOD1, APOB, APOA1, COL2A1, LEP
50alanine437.4COL2A1, IGFBP3, SREBF2, SOD1, APOB, APOA1

GO Terms for genes affiliated with Avascular Necrosis of the Femoral Head

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

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:00716829.9APOB, APOA1
2very-low-density lipoprotein particleGO:00343619.8APOA1, APOB
3clathrin-coated endocytic vesicle membraneGO:00306699.6HLA-DRB1, APOB
4endoplasmic reticulum lumenGO:00057889.5COL2A1, APOB, APOA1
5mitochondrial intermembrane spaceGO:00057589.1SOD1, CAT
6ER to Golgi transport vesicle membraneGO:00125079.1SREBF2, HLA-DRB1
7extracellular spaceGO:00056158.0SOD1, IGFBP3, LEP, APOA1, APOB, COL2A1
8extracellular regionGO:00055767.9COL2A1, IGFBP3, LEP, APOA1, APOB, SOD1
9cytosolGO:00058297.9APOA1, APOB, SOD1, SREBF2, CAT

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:004215810.0APOB, APOA1
2cholesterol transportGO:003030110.0APOA1, APOB
3cholesterol effluxGO:003334410.0APOB, APOA1
4regulation of intestinal cholesterol absorptionGO:00303009.9APOA1, LEP
5lipoprotein metabolic processGO:00421579.9APOB, APOA1
6response to vitamin EGO:00331979.8LEP, CAT
7protein tetramerizationGO:00512629.8CAT, HLA-DRB1
8retinoid metabolic processGO:00015239.8APOA1, APOB
9cholesterol homeostasisGO:00426329.7APOA1, APOB
10positive regulation of cytokine productionGO:00018199.6LEP, SOD1
11positive regulation of cholesterol storageGO:00108869.5APOB, SREBF2
12placenta developmentGO:00018909.5LEP, SOD1
13positive regulation of MAPK cascadeGO:00434109.4LEP, IGFBP3
14positive regulation of catalytic activityGO:00430859.4IGFBP3, SOD1
15regulation of blood pressureGO:00082179.0SOD1, LEP
16cholesterol metabolic processGO:00082038.3LEP, APOA1, APOB, SREBF2, CAT

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.8APOB, APOA1

Products for genes affiliated with Avascular Necrosis of the Femoral Head

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Sources for Avascular Necrosis of the Femoral Head

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet