MCID: AVS004
MIFTS: 49

Avascular Necrosis of the Femoral Head malady

Bone diseases, Genetic diseases categories

Summaries for Avascular Necrosis of the Femoral Head

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46OMIM, 32MalaCards
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MalaCards: Avascular Necrosis of the Femoral Head, also known as familial avascular necrosis of femoral head, is related to leukemia and 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 Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) and Scavenging by Class B Receptors. The compounds uric acid and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are vision/eye and skeleton.

Description from OMIM:46 608805

Aliases & Classifications for Avascular Necrosis of the Femoral Head

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48Orphanet, 46OMIM, 30LifeMap Discovery™, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

avascular necrosis of the femoral head 46 30
familial avascular necrosis of femoral head 48
familial osteonecrosis of the femoral head 48


External Ids:

OMIM46 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 189)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.0CAT, BMP2, HLA-DRB1, FGF2, TTR
2arthritis31.0COL2A1, BMP2, HLA-DRB1, FGF2, LEP
3osteoarthritis30.9COL2A1, BMP2, FGF2
4rheumatoid arthritis30.7COL2A1, APOA1, BMP2, HLA-DRB1, VEGFA
5psoriasis30.5HLA-DRB1
6infertility30.5LEP, CAT
7multiple sclerosis30.5HLA-DRB1, APOA1
8ischemia30.5CAT, SOD1, VEGFA, FGF2
9sickle cell disease11.0
10familial avascular necrosis of the femoral head10.8
11systemic lupus erythematosus10.6
12acute leukemia10.6
13lupus erythematosus10.6
14bursitis10.5
15lymphoblastic leukemia10.5
16periostitis10.5
17graft versus host disease10.4
18gout10.4
19renal osteodystrophy10.4
20antiphospholipid syndrome10.4
21familial mediterranean fever10.4
22trichorhinophalangeal syndrome type i10.4
23superior mesenteric artery syndrome10.4
24pituitary apoplexy10.4
25osteomalacia10.4
26spinal stenosis10.4
27bone lymphoma10.4
28femoral cancer10.4
29chronic myeloid leukemia10.4
30septic arthritis10.4
31legg-calve-perthes disease10.4
32brucellosis10.4
33hodgkin's lymphoma10.4
34male infertility10.4
35myeloid leukemia10.4
36neuroblastoma10.4
37prostate cancer10.4
38prostatitis10.4
39scleroderma10.4
40osteonecrosis10.0BMP2
41myopia 610.0COL2A1
42polyneuropathy10.0TTR
43deficiency anemia10.0TTR
44thromboembolism10.0APOA1
45neuropathy10.0TTR
46synovitis10.0COL2A1
47sarcoma10.0BMP2
48carpal tunnel syndrome10.0TTR
49glaucoma10.0TTR
50cholestasis10.0LIPC

Graphical network of the top 20 diseases related to Avascular Necrosis of the Femoral Head:



Diseases related to avascular necrosis of the femoral head

Clinical Features for Avascular Necrosis of the Femoral Head

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46OMIM
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Clinical features from OMIM:

608805

Drugs & Therapeutics for Avascular Necrosis of the Femoral Head

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Avascular Necrosis of the Femoral Head

Drug clinical trials:

Search ClinicalTrials for Avascular Necrosis of the Femoral Head

Search NIH Clinical Center for Avascular Necrosis of the Femoral Head

Search CenterWatch 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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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Avascular Necrosis of the Femoral Head:

32
Bone

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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36MGI
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MGI Mouse Phenotypes related to Avascular Necrosis of the Femoral Head:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1COL2A1, SOD1, FGF2, TTR
2MP:00053908.7FGF2, VEGFA, BMP2, COL2A1
3MP:00053898.3APOB, BMP2, LIPC, VEGFA
4MP:00053768.1TTR, LEP, LIPC, APOB, APOA1, SOD1
5MP:00053707.5COL2A1, SOD1, APOA1, APOB, VEGFA, LEP
6MP:00053856.9COL2A1, SOD1, APOA1, APOB, BMP2, VEGFA

Publications for Avascular Necrosis of the Femoral Head

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Genetic Variations for Avascular Necrosis of the Femoral Head

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62UniProtKB/Swiss-Prot
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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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1BioGPS, 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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53Reactome, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN
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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
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
9.9APOL1, APOA1
29.7APOA1, APOB
39.7APOB, APOA1
49.5SOD1, CAT
59.5CAT, SOD1
6
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9.4APOA1, APOL1, APOB
7
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9.4TTR, APOB, APOA1
8
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9.4LIPC, APOB, APOA1
9
Hide members
9.3COL2A1, BMP2, FGF2, TTR
109.2CAT, SOD1, APOA1
119.0FGF2, VEGFA, COL2A1
12
Hide members
8.8SOD1, APOA1, VEGFA
138.8APOB, APOA1, SOD1, CAT
14
Hide members
8.4SOD1, APOA1, APOB, VEGFA
15
Hide members
7.7COL2A1, APOA1, APOB, BMP2, VEGFA, FGF2

Compounds for genes affiliated with Avascular Necrosis of the Femoral Head

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Sources:
44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 49PharmGKB, 2BitterDB
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Compounds related to Avascular Necrosis of the Femoral Head according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1uric acid44 2411.6TTR
2alpha tocopherol4410.6TTR
3estrogen4410.2LIPC, TTR
4cycloheximide4410.2CAT, COL2A1
5resveratrol44 59 11 2413.1BMP2, TTR
6polyethylene glycol 6000449.9APOB, APOA1
7fpl 55712449.7CAT, SOD1
8retinyl palmitate44 2410.7APOA1, TTR, APOB
9tetrac449.7TTR, FGF2
10maxepa449.7APOA1, APOB
11nickel carbonate hydroxide449.7SOD1, CAT
12indomethacin44 59 28 1112.7BMP2, LEP, APOA1
13bathocuproine449.7SOD1, CAT
14ciprofibrate44 2810.6APOB, APOA1, CAT
15u 83836e449.6SOD1, CAT
16acipimox44 2810.5LEP, APOA1, APOB
17h2o2449.5LEP, FGF2, CAT
18tibolone449.4APOB, APOA1, LEP
19heparin44 28 11 2412.4LIPC, BMP2, VEGFA
20orlistat44 59 1111.4LEP, APOB, LIPC
21lovastatin44 49 59 28 1113.4APOA1, LIPC, APOB, BMP2
22bucillamine449.3FGF2, VEGFA, CAT
23intralipid449.3APOA1, APOB, LEP, LIPC
24pravastatin44 49 28 11 2413.2APOB, APOA1, LEP, BMP2
25fenofibrate44 49 1111.2LEP, APOB, APOA1, LIPC
26triacylglycerol449.2APOA1, APOB, LIPC, LEP
27dexamethasone44 49 28 1112.2BMP2, FGF2, VEGFA, COL2A1
28vitamin a44 11 2411.0FGF2, LIPC, APOB, APOA1, CAT
29serine449.0LEP, FGF2, COL2A1, BMP2, LIPC
30apocynin44 599.9CAT, SOD1, VEGFA
31carbohydrates448.9LIPC, FGF2, LEP, TTR
32tocopherol448.9SOD1, CAT, APOB, APOA1, TTR
33probucol44 119.9LIPC, APOB, CAT, SOD1, APOA1
34fibrinogen448.8LIPC, APOB, APOA1, TTR, LEP
35betacarotene448.7TTR, CAT, SOD1, LEP, APOB
36atorvastatin44 49 28 11 2412.7VEGFA, APOA1, APOB, BMP2, LIPC
37thyroxine44 249.6APOB, LEP, LIPC, APOA1, FGF2, TTR
38hyaluronic acid44 249.6TTR, BMP2, LEP, FGF2, VEGFA
39lactate448.6APOA1, APOB, CAT, TTR, SOD1, BMP2
40testosterone44 59 11 2411.5LIPC, TTR, BMP2, LEP, APOA1, APOB
41creatinine448.4APOA1, LEP, APOB, SOD1, TTR, BMP2
42pioglitazone44 49 28 1111.4APOA1, LEP, VEGFA, LIPC, APOB
43cholesterol44 28 11 2411.4BMP2, APOL1, TTR, LEP, LIPC, APOB
44genistein44 28 59 2 11 2413.3APOB, FGF2, TTR, APOA1, BMP2, VEGFA
45prostacyclin448.3APOA1, LEP, SOD1, VEGFA, FGF2
46simvastatin44 49 59 28 11 2413.3VEGFA, BMP2, APOA1, APOB
47arginine448.0BMP2, SOD1, COL2A1, HLA-DRB1, LIPC, LEP
48ascorbic acid44 248.9APOA1, SOD1, TTR, COL2A1, BMP2, LEP
49alanine447.8BMP2, HLA-DRB1, APOA1, SOD1, COL2A1, TTR
50lipid447.5LEP, LIPC, BMP2, APOB, APOL1, 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:0716829.7APOB, APOA1
2very-low-density lipoprotein particleGO:0343619.3APOA1, APOL1, APOB
3high-density lipoprotein particleGO:0343649.2LIPC, APOL1, APOA1
4extracellular regionGO:0055766.4TTR, COL2A1, LEP, FGF2, VEGFA, BMP2
5extracellular spaceGO:0056156.1LIPC, TTR, FGF2, VEGFA, BMP2, APOB

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00602910.3BMP2, COL2A1
2corticotropin hormone secreting cell differentiationGO:06012810.2FGF2, BMP2
3thyroid-stimulating hormone-secreting cell differentiationGO:06012910.2BMP2, FGF2
4cellular response to BMP stimulusGO:07177310.1COL2A1, BMP2
5high-density lipoprotein particle remodelingGO:03437510.1APOA1, LIPC
6bone mineralization involved in bone maturationGO:03563010.0BMP2, LEP
7lipoprotein biosynthetic processGO:04215810.0APOB, APOA1
8regulation of intestinal cholesterol absorptionGO:03030010.0APOA1, LEP
9reverse cholesterol transportGO:04369110.0LIPC, APOA1
10low-density lipoprotein particle remodelingGO:0343749.9LIPC, APOB
11cholesterol transportGO:0303019.9APOA1, APOB
12triglyceride homeostasisGO:0703289.9APOA1, LIPC
13response to vitamin EGO:0331979.8CAT, LEP
14lipoprotein metabolic processGO:0421579.8APOA1, APOL1, APOB
15positive regulation of p38MAPK cascadeGO:19007459.8VEGFA, BMP2
16retinoid metabolic processGO:0015239.7APOA1, APOB, TTR
17cholesterol homeostasisGO:0426329.7APOA1, APOB, LIPC
18phototransduction, visible lightGO:0076039.7APOA1, APOB, TTR
19triglyceride catabolic processGO:0194339.7APOB, LIPC
20extracellular matrix organizationGO:0301989.6COL2A1, BMP2, FGF2, TTR
21activation of MAPK activityGO:0001879.6FGF2, BMP2, SOD1
22positive regulation of cytokine productionGO:0018199.5LEP, SOD1
23cell migration involved in sprouting angiogenesisGO:0020429.5VEGFA, FGF2
24positive regulation of blood vessel endothelial cell migrationGO:0435369.5FGF2, VEGFA
25cholesterol effluxGO:0333449.4APOB, APOA1
26positive regulation of endothelial cell proliferationGO:0019389.4FGF2, VEGFA, BMP2
27positive regulation of cell divisionGO:0517819.2CAT, VEGFA, FGF2
28artery morphogenesisGO:0488449.2VEGFA, APOB
29platelet degranulationGO:0025769.1SOD1, APOA1, VEGFA
30response to hypoxiaGO:0016668.8LEP, VEGFA, BMP2, CAT
31cholesterol metabolic processGO:0082038.6LEP, CAT, APOA1, APOL1, APOB, LIPC
32blood coagulationGO:0075968.3SOD1, APOA1, APOB, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:0171279.4APOA1, APOB
2chemoattractant activityGO:0420569.3VEGFA, FGF2
3heparin bindingGO:0082018.6VEGFA, APOB, LIPC, FGF2
4growth factor activityGO:0080838.5LEP, BMP2, VEGFA, FGF2
5protein heterodimerization activityGO:0469828.5TTR, VEGFA, BMP2, APOB
6identical protein bindingGO:0428028.3APOA1, VEGFA, TTR, COL2A1, SOD1

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet