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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MalaCards based summary: Avascular Necrosis of the Femoral Head, also known as familial avascular necrosis of femoral head, is related to arthritis and rheumatoid arthritis, and has symptoms including 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:46 608805

Aliases & Classifications for Avascular Necrosis of the Femoral Head

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Sources:
30LifeMap Discovery®, 9diseasecard, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Avascular Necrosis of the Femoral Head, Aliases & Descriptions:

Name: Avascular Necrosis of the Femoral Head 30 9 46 62
Familial Avascular Necrosis of Femoral Head 48
 
Familial Osteonecrosis of the Femoral Head 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 48 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

48
familial avascular necrosis of femoral head:
Inheritance: Autosomal dominant; Age of onset: Adulthood


External Ids:

OMIM46 608805
ICD10 via Orphanet26 M87.8

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/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.1HLA-DRB1, COL2A1, LEP
2rheumatoid arthritis31.1COL2A1, 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
13acute lymphoblastic leukemia10.6
14bursitis10.6
15lymphoblastic leukemia10.6
16periostitis10.6
17slipped capital femoral epiphysis10.6
18back pain10.6
19chylomicron retention disease10.5APOB
20diabetic cataract10.5CAT
21rabson-mendenhall syndrome10.4IGFBP3
22acute leukemia10.4
23chronic myeloid leukemia10.4
24graft versus host disease10.4
25hiv-110.4
26hodgkin's lymphoma10.4
27multiple sclerosis10.4
28prostate cancer10.4
29spinal stenosis10.4
30familial mediterranean fever10.4
31antiphospholipid syndrome10.4
32trichorhinophalangeal syndrome type i10.4
33legg-calve-perthes disease10.4
34pituitary apoplexy10.4
35septic arthritis10.4
36gout10.4
37renal osteodystrophy10.4
38infertility10.4
39osteomalacia10.4
40brucellosis10.4
41ischemia10.4
42myeloid leukemia10.4
43neuroblastoma10.4
44prostatitis10.4
45psoriasis10.4
46scleroderma10.4
47metachondromatosis10.4
48pandas10.4
49spiradenoma10.4CAT
50hypermethioninemia10.4SOD1

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

32
Bone, Endothelial, Bone marrow, Heart, 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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MGI Mouse Phenotypes related to Avascular Necrosis of the Femoral Head:

36
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 320)
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
Avascular necrosis of the femoral head as the first manifestation of acute lymphoblastic leukemia. (16502568)
2006
17
Hyperbaric oxygen therapy as a treatment for stage-I avascular necrosis of the femoral head. (14765887)
2004
18
Deceptive low back pain and pseudoradicular signs in avascular necrosis of the femoral head. (17618211)
2004
19
Avascular necrosis of the femoral head in a HIV-1 infected patient receiving lopinavir/ritonavir. (14659664)
2003
20
Prognosis of early stage avascular necrosis of the femoral head. (9973986)
1999
21
Avascular necrosis of the femoral head after intertrochanteric fractures. (9892118)
1999
22
Changes on magnetic resonance images after traumatic avascular necrosis of the femoral head. (10342352)
1999
23
No link between avascular necrosis of the femoral head and antiphospholipid antibodies. (9513610)
1997
24
Avascular necrosis of the femoral head after intramedullary nailing of a femoral shaft fracture in a male adolescent. (9210128)
1997
25
Diagnostic patterns for bone marrow oedema syndrome and avascular necrosis of the femoral head in dynamic bone scintigraphy. (9481765)
1997
26
Is avascular necrosis of the femoral head the result of inhibition of angiogenesis? (9466372)
1997
27
Vascularized pedicle bone-grafting for nontraumatic avascular necrosis of the femoral head. A 5- to 11-year follow-up. (9177798)
1997
28
Vascularized iliac bone graft for avascular necrosis of the femoral head. (9137185)
1997
29
Long-term follow-up of avascular necrosis of the femoral head in the dog. (8642794)
1996
30
Non-traumatic avascular necrosis of the femoral head. (7890797)
1995
31
Diagnosis of avascular necrosis of the femoral head in patients treated for lymphoma. (7622143)
1995
32
Avascular necrosis of the femoral head after closed intramedullary shortening in an adolescent. (7883921)
1995
33
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
34
Transtrochanteric anterior rotational osteotomy for avascular necrosis of the femoral head. Long-term results. (8331115)
1993
35
Intertrochanteric osteotomy and autogenous bone-grafting for avascular necrosis of the femoral head. (8354670)
1993
36
Bipolar prosthetic replacement for the treatment of avascular necrosis of the femoral head. (1555332)
1992
37
Iliac periosteal graft with vascular pedicle in the treatment of avascular necrosis of the femoral head. Experimental study and clinical application. (1291204)
1992
38
Magnetic resonance imaging and scintigraphy of avascular necrosis of the femoral head. Prediction of subsequent segmental collapse. (1555357)
1992
39
Detection of acute avascular necrosis of the femoral head in dogs: dynamic contrast-enhanced MR imaging vs spin-echo and STIR sequences. (1442396)
1992
40
Natural history of nontraumatic avascular necrosis of the femoral head. (1991778)
1991
41
Core decompression for avascular necrosis of the femoral head: correlation between long-term results and preoperative MR staging. (2326478)
1990
42
Avascular necrosis of the femoral head. (2522435)
1989
43
Avascular necrosis of the femoral head: morphologic assessment by MR imaging, with CT correlation. (3786725)
1986
44
Avascular necrosis of the femoral head in sickle-cell disease. A series from the Guinea Savannah of Nigeria. (3968138)
1985
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:

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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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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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 networks37
9.5SOD1, APOB
8
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
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 Metabolism37
9.1CAT, SOD1, APOA1
14
Show member pathways
8.8SREBF2, APOA1, LEP
15
Show member pathways
thioredoxin pathway37
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/GeneDecks:

(show top 50)    (show all 163)
idCompoundScoreTop Affiliating Genes
1polyethylene glycol 60004410.1APOB, APOA1
2maxepa4410.1APOA1, APOB
3lynestrenol4410.0APOB, APOA1
4bathocuproine449.8CAT, SOD1
5u 83836e449.8SOD1, CAT
6fpl 55712449.8SOD1, CAT
7nickel carbonate hydroxide449.8SOD1, CAT
8ciprofibrate44 2810.8APOB, APOA1, CAT
91,3-dimethyl-2-thiourea449.7CAT, SOD1
10fructosamine44 2410.7APOA1, APOB, IGFBP3
11acipimox44 2810.6LEP, APOA1, APOB
12intralipid449.6LEP, APOA1, APOB
13tibolone449.6APOA1, LEP, APOB
14levonorgestrel44 61 28 1112.6APOB, APOA1, IGFBP3
15n-(2-mercaptopropionyl)glycine449.5CAT, SOD1
16colestipol449.5APOB, APOA1
17alpha-phenyl-n-tert-butylnitrone449.4SOD1, CAT
18ionol449.4CAT, SOD1
1925-hydroxyvitamin d449.4IGFBP3, LEP, APOA1
20dextran sulfate449.3APOA1, IGFBP3, APOB
21dmpo-oh449.3SOD1, CAT
228-isoprostane449.3CAT, SOD1, LEP
23clonidine44 50 28 1112.2APOA1, LEP, IGFBP3
24silymarin449.2SOD1, CAT, IGFBP3
25probucol44 1110.2APOB, SOD1, CAT, APOA1
26tocopherol449.2APOB, SOD1, CAT, APOA1
27chloramphenicol44 2 50 1112.2APOB, CAT, IGFBP3, COL2A1
28l-nmma449.1LEP, SOD1, CAT
29thyroxine44 2410.1IGFBP3, APOA1, LEP, APOB
30tamoxifen44 50 28 1111.9IGFBP3, APOB, LEP, APOA1
31fenofibrate44 50 1110.8LEP, SREBF2, APOA1, APOB
32triacylglycerol448.8APOB, SREBF2, APOA1, LEP
33pravastatin44 50 28 24 1112.8APOB, SREBF2, APOA1, LEP
34indomethacin44 28 61 1111.8SOD1, CAT, LEP, APOA1
35cycloheximide448.7LEP, IGFBP3, APOB, CAT, COL2A1
36dexamethasone44 50 28 1111.7COL2A1, IGFBP3, APOA1, APOB, LEP
37uric acid44 249.6CAT, APOB, APOA1, LEP, SOD1
38lactate448.6CAT, IGFBP3, APOA1, APOB, SOD1
39h2o2448.6APOA1, CAT, LEP, SOD1, APOB
40betacarotene448.5IGFBP3, LEP, APOB, SOD1, CAT
41creatinine448.5SOD1, LEP, IGFBP3, APOB, APOA1
42cholesterol44 28 24 1111.2IGFBP3, SREBF2, APOB, APOA1, LEP
43ascorbic acid44 249.2CAT, COL2A1, SOD1, LEP, IGFBP3, APOA1
44alpha tocopherol448.1IGFBP3, SOD1, APOB, APOA1, LEP, CAT
45vitamin a44 24 1110.1CAT, APOB, SOD1, APOA1, LEP, IGFBP3
46glutamate448.0HLA-DRB1, LEP, APOA1, APOB, SOD1, IGFBP3
47cysteine447.7IGFBP3, CAT, COL2A1, SREBF2, SOD1, LEP
48arginine447.6SREBF2, COL2A1, IGFBP3, HLA-DRB1, LEP, SOD1
49lipid447.5SREBF2, SOD1, APOB, APOA1, COL2A1, LEP
50alanine447.4COL2A1, 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/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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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet