MCID: AVS004
MIFTS: 59

Avascular Necrosis of the Femoral Head malady

Genetic diseases, Bone diseases, Rare diseases categories
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Summaries for Avascular Necrosis of the Femoral Head

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47OMIM, 33MalaCards
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MalaCards: Avascular Necrosis of the Femoral Head, also known as familial avascular necrosis of femoral head, is related to arthritis and rheumatoid arthritis. 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 heart, and related mouse phenotypes are cardiovascular system and vision/eye.

Description from OMIM:47 608805

Aliases & Classifications for Avascular Necrosis of the Femoral Head

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49Orphanet, 47OMIM, 31LifeMap Discovery™, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 49 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

49
familial avascular necrosis of femoral head:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

avascular necrosis of the femoral head 47 31
familial avascular necrosis of femoral head 49
familial osteonecrosis of the femoral head 49


External Ids:

OMIM47 608805
ICD10 via Orphanet26 M87.8

Related Diseases for Avascular Necrosis of the Femoral Head

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.1HLA-DRB1, LEP, COL2A1
2rheumatoid arthritis30.9HLA-DRB1, APOA1, COL2A1
3male infertility30.7CAT, SOD1
4sickle cell disease11.0
5familial avascular necrosis of the femoral head10.9
6traumatic avascular necrosis10.8
7leukemia10.8
8endotheliitis10.7
9osteoarthritis10.7
10systemic lupus erythematosus10.7
11lupus erythematosus10.7
12idiopathic avascular necrosis10.7
13bursitis10.6
14lymphoblastic leukemia10.6
15periostitis10.6
16slipped capital femoral epiphysis10.6
17back pain10.6
18graft versus host disease10.4
19familial mediterranean fever10.4
20antiphospholipid syndrome10.4
21pituitary apoplexy10.4
22spinal stenosis10.4
23osteomalacia10.4
24chronic myeloid leukemia10.4
25septic arthritis10.4
26infertility10.4
27acute leukemia10.4
28trichorhinophalangeal syndrome type i10.4
29legg-calve-perthes disease10.4
30gout10.4
31renal osteodystrophy10.4
32brucellosis10.4
33hodgkin's lymphoma10.4
34ischemia10.4
35multiple sclerosis10.4
36myeloid leukemia10.4
37neuroblastoma10.4
38prostate cancer10.4
39prostatitis10.4
40psoriasis10.4
41scleroderma10.4
42metachondromatosis10.4
43pandas10.4
44hiv-110.4
45chylomicron retention disease10.1APOB
46diabetic cataract10.1CAT
47rabson-mendenhall syndrome10.1IGFBP3
48eye disease10.1CAT
49hypermethioninemia10.1SOD1
50arcus senilis10.1APOB, APOA1

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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47OMIM
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Clinical features from OMIM:

608805

Drugs & Therapeutics for Avascular Necrosis of the Femoral Head

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
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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
The database of embryonic development, stem cell research and regenerative medicine
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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Anatomical Context for Avascular Necrosis of the Femoral Head

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Avascular Necrosis of the Femoral Head:

33
Bone, Endothelial, Heart, Bone marrow, Myeloid, Lymph node, Breast, Prostate, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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37MGI
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MGI Mouse Phenotypes related to Avascular Necrosis of the Femoral Head:

37
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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52PubMed
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Articles related to Avascular Necrosis of the Femoral Head:

(show top 50)    (show all 309)
idTitleAuthorsYear
1
MDR1 Gene Polymorphisms Are Associated with Glucocorticoid-Induced Avascular Necrosis of the Femoral Head in a Chinese Population. (24387690)
2014
2
Trabecular metal screw implanted for avascular necrosis of the femoral head may complicate subsequent arthroplasty surgery. (23860809)
2013
3
Long-term results of 32-mm alumina-on-alumina THA for avascular necrosis of the femoral head. (22249776)
2012
4
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
5
Macroscopic and microscopic findings in avascular necrosis of the femoral head. (22990546)
2012
6
In brief: Ficat classification: avascular necrosis of the femoral head. (22760600)
2012
7
Genetic traits of avascular necrosis of the femoral head analyzed by array comparative genomic hybridization and real-time polymerase chain reaction. (21210629)
2011
8
Coincidence of avascular necrosis of the femoral head and unstable intertrochanteric fracture: is an extensively coated cementless revision stem a reasonable choice? (21206291)
2011
9
Avascular necrosis of the femoral head in patients with Hodgkin's disease. (21157752)
2010
10
Effect of antler extract on corticosteroid-induced avascular necrosis of the femoral head in rats. (19818844)
2010
11
Avascular necrosis of the femoral head following intramedullary nailing of the femur in a skeletally mature young adult: a case report. (18716697)
2008
12
Avascular necrosis of the femoral head in sickle cell disease in Nigeria: a retrospective study. (17767206)
2007
13
Avascular necrosis of the femoral head 8 years after posterior hip dislocation. (17316640)
2007
14
Prediction of avascular necrosis of the femoral head by measuring intramedullary oxygen tension after femoral neck fracture. (17762476)
2007
15
Avascular necrosis of the femoral head as the first manifestation of acute lymphoblastic leukemia. (16502568)
2006
16
Hyperbaric oxygen therapy as a treatment for stage-I avascular necrosis of the femoral head. (14765887)
2004
17
Deceptive low back pain and pseudoradicular signs in avascular necrosis of the femoral head. (17618211)
2004
18
Avascular necrosis of the femoral head in a HIV-1 infected patient receiving lopinavir/ritonavir. (14659664)
2003
19
Prognosis of early stage avascular necrosis of the femoral head. (9973986)
1999
20
Avascular necrosis of the femoral head after intertrochanteric fractures. (9892118)
1999
21
Changes on magnetic resonance images after traumatic avascular necrosis of the femoral head. (10342352)
1999
22
No link between avascular necrosis of the femoral head and antiphospholipid antibodies. (9513610)
1997
23
Avascular necrosis of the femoral head after intramedullary nailing of a femoral shaft fracture in a male adolescent. (9210128)
1997
24
Diagnostic patterns for bone marrow oedema syndrome and avascular necrosis of the femoral head in dynamic bone scintigraphy. (9481765)
1997
25
Is avascular necrosis of the femoral head the result of inhibition of angiogenesis? (9466372)
1997
26
Vascularized pedicle bone-grafting for nontraumatic avascular necrosis of the femoral head. A 5- to 11-year follow-up. (9177798)
1997
27
Vascularized iliac bone graft for avascular necrosis of the femoral head. (9137185)
1997
28
Long-term follow-up of avascular necrosis of the femoral head in the dog. (8642794)
1996
29
Diagnosis of avascular necrosis of the femoral head in patients treated for lymphoma. (7622143)
1995
30
Avascular necrosis of the femoral head after closed intramedullary shortening in an adolescent. (7883921)
1995
31
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
32
Transtrochanteric anterior rotational osteotomy for avascular necrosis of the femoral head. Long-term results. (8331115)
1993
33
Intertrochanteric osteotomy and autogenous bone-grafting for avascular necrosis of the femoral head. (8354670)
1993
34
Bipolar prosthetic replacement for the treatment of avascular necrosis of the femoral head. (1555332)
1992
35
Iliac periosteal graft with vascular pedicle in the treatment of avascular necrosis of the femoral head. Experimental study and clinical application. (1291204)
1992
36
Magnetic resonance imaging and scintigraphy of avascular necrosis of the femoral head. Prediction of subsequent segmental collapse. (1555357)
1992
37
Detection of acute avascular necrosis of the femoral head in dogs: dynamic contrast-enhanced MR imaging vs spin-echo and STIR sequences. (1442396)
1992
38
Natural history of nontraumatic avascular necrosis of the femoral head. (1991778)
1991
39
Core decompression for avascular necrosis of the femoral head: correlation between long-term results and preoperative MR staging. (2326478)
1990
40
Avascular necrosis of the femoral head. (2522435)
1989
41
Avascular necrosis of the femoral head: morphologic assessment by MR imaging, with CT correlation. (3786725)
1986
42
Avascular necrosis of the femoral head in sickle-cell disease. A series from the Guinea Savannah of Nigeria. (3968138)
1985
43
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
44
Haematological factors associated with avascular necrosis of the femoral head in homozygous sickle cell disease. (6173057)
1982
45
Avascular necrosis of the femoral head: association with adjuvant chemotherapy for breast carcinoma. (7407772)
1980
46
Avascular necrosis of the femoral head. (141443)
1977
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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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Avascular Necrosis of the Femoral Head:

64
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Avascular Necrosis of the Femoral Head

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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Sources:
50PathCards, 30KEGG, 55Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 51PharmGKB, 53QIAGEN
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Pathways related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8APOA1, APOB
29.8APOB, APOA1
39.8APOB, APOA1
4
Show member pathways
9.8APOB, APOA1
5
Show member pathways
9.8APOB, APOA1
6
Show member pathways
9.8APOB, APOA1
7
Show member pathways
FOXA transcription factor networks38
9.5SOD1, APOB
8
Show member pathways
Amyotrophic lateral sclerosis (ALS)38
9.4CAT, SOD1
99.4CAT, SOD1
10
Show member pathways
9.4CAT, SOD1
119.4SOD1, CAT
12
Show member pathways
9.4SOD1, CAT
13
Show member pathways
Vitamin B12 Metabolism38
9.1CAT, SOD1, APOA1
14
Show member pathways
8.8SREBF2, APOA1, LEP
15
Show member pathways
thioredoxin pathway38
8.7CAT, SOD1, APOB, APOA1

Compounds for genes affiliated with Avascular Necrosis of the Femoral Head

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Sources:
45Novoseek, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 11DrugBank, 51PharmGKB, 3BitterDB
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Compounds related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

(show top 50)    (show all 163)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol 60004510.1APOB, APOA1
2maxepa4510.1APOA1, APOB
3lynestrenol4510.0APOB, APOA1
4bathocuproine459.8CAT, SOD1
5u 83836e459.8SOD1, CAT
6fpl 55712459.8SOD1, CAT
7nickel carbonate hydroxide459.8SOD1, CAT
8ciprofibrate45 2910.8APOB, APOA1, CAT
91,3-dimethyl-2-thiourea459.7CAT, SOD1
10fructosamine45 2410.7APOA1, APOB, IGFBP3
11acipimox45 2910.6LEP, APOA1, APOB
12intralipid459.6LEP, APOA1, APOB
13tibolone459.6APOA1, LEP, APOB
14levonorgestrel45 61 29 1112.6APOB, APOA1, IGFBP3
15n-(2-mercaptopropionyl)glycine459.5CAT, SOD1
16colestipol459.5APOB, APOA1
17alpha-phenyl-n-tert-butylnitrone459.4SOD1, CAT
18ionol459.4CAT, SOD1
1925-hydroxyvitamin d459.4IGFBP3, LEP, APOA1
20dextran sulfate459.3APOA1, IGFBP3, APOB
21dmpo-oh459.3SOD1, CAT
228-isoprostane459.3CAT, SOD1, LEP
23clonidine45 51 29 1112.2APOA1, LEP, IGFBP3
24silymarin459.2SOD1, CAT, IGFBP3
25probucol45 1110.2APOB, SOD1, CAT, APOA1
26tocopherol459.2APOB, SOD1, CAT, APOA1
27chloramphenicol45 3 51 1112.2APOB, CAT, IGFBP3, COL2A1
28l-nmma459.1LEP, SOD1, CAT
29thyroxine45 2410.1IGFBP3, APOA1, LEP, APOB
30tamoxifen45 51 29 1111.9IGFBP3, APOB, LEP, APOA1
31fenofibrate45 51 1110.8LEP, SREBF2, APOA1, APOB
32triacylglycerol458.8APOB, SREBF2, APOA1, LEP
33pravastatin45 51 29 24 1112.8APOB, SREBF2, APOA1, LEP
34indomethacin45 29 61 1111.8SOD1, CAT, LEP, APOA1
35cycloheximide458.7LEP, IGFBP3, APOB, CAT, COL2A1
36dexamethasone45 51 29 1111.7COL2A1, IGFBP3, APOA1, APOB, LEP
37uric acid45 249.6CAT, APOB, APOA1, LEP, SOD1
38lactate458.6CAT, IGFBP3, APOA1, APOB, SOD1
39h2o2458.6APOA1, CAT, LEP, SOD1, APOB
40betacarotene458.5IGFBP3, LEP, APOB, SOD1, CAT
41creatinine458.5SOD1, LEP, IGFBP3, APOB, APOA1
42cholesterol45 29 24 1111.2IGFBP3, SREBF2, APOB, APOA1, LEP
43ascorbic acid45 249.2CAT, COL2A1, SOD1, LEP, IGFBP3, APOA1
44alpha tocopherol458.1IGFBP3, SOD1, APOB, APOA1, LEP, CAT
45vitamin a45 24 1110.1CAT, APOB, SOD1, APOA1, LEP, IGFBP3
46glutamate458.0HLA-DRB1, LEP, APOA1, APOB, SOD1, IGFBP3
47cysteine457.7IGFBP3, CAT, COL2A1, SREBF2, SOD1, LEP
48arginine457.6SREBF2, COL2A1, IGFBP3, HLA-DRB1, LEP, SOD1
49lipid457.5SREBF2, SOD1, APOB, APOA1, COL2A1, LEP
50alanine457.4COL2A1, IGFBP3, SREBF2, SOD1, APOB, APOA1

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

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16Gene Ontology
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Cellular components related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.9APOB, APOA1
2very-low-density lipoprotein particleGO:0343619.8APOB, APOA1
3clathrin-coated endocytic vesicle membraneGO:0306699.6APOB, HLA-DRB1
4endoplasmic reticulum lumenGO:0057889.5APOA1, APOB, COL2A1
5mitochondrial intermembrane spaceGO:0057589.1SOD1, CAT
6ER to Golgi transport vesicle membraneGO:0125079.1SREBF2, HLA-DRB1
7extracellular spaceGO:0056158.0COL2A1, SOD1, APOB, APOA1, LEP, IGFBP3
8extracellular regionGO:0055767.9IGFBP3, LEP, APOA1, APOB, SOD1, COL2A1
9cytosolGO:0058297.9CAT, SREBF2, SOD1, APOB, APOA1

Biological processes related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:04215810.0APOB, APOA1
2cholesterol transportGO:03030110.0APOB, APOA1
3cholesterol effluxGO:03334410.0APOA1, APOB
4regulation of intestinal cholesterol absorptionGO:0303009.9LEP, APOA1
5lipoprotein metabolic processGO:0421579.9APOB, APOA1
6response to vitamin EGO:0331979.8CAT, LEP
7protein tetramerizationGO:0512629.8CAT, HLA-DRB1
8retinoid metabolic processGO:0015239.8APOB, APOA1
9cholesterol homeostasisGO:0426329.7APOB, APOA1
10positive regulation of cytokine productionGO:0018199.6SOD1, LEP
11positive regulation of cholesterol storageGO:0108869.5APOB, SREBF2
12placenta developmentGO:0018909.5SOD1, LEP
13positive regulation of MAPK cascadeGO:0434109.4LEP, IGFBP3
14positive regulation of catalytic activityGO:0430859.4IGFBP3, SOD1
15regulation of blood pressureGO:0082179.0SOD1, LEP
16cholesterol metabolic processGO:0082038.3CAT, SREBF2, APOB, APOA1, LEP

Molecular functions related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:0171279.8APOB, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet