MCID: AVS004
MIFTS: 40

Avascular Necrosis of the Femoral Head malady

Bone, Genetic categories

Summaries for Avascular Necrosis of the Femoral Head

Sources:
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 osteoarthritis. 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. Related mouse phenotypes are vision/eye and skeleton.

Description from OMIM:47 608805

Aliases & Classifications for Avascular Necrosis of the Femoral Head

Sources:
47OMIM, 49Orphanet, 31LifeMap Discovery™, 26ICD10 via Orphanet
See all sources

Classifications:

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


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

Sources:
17GeneCards, 18GeneDecks
See all sources

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 184)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis31.0COL2A1, HLA-DRB1, FGF2, BMP2, LEP
2osteoarthritis30.9FGF2, BMP2, COL2A1
3infertility30.6CAT, LEP
4sickle cell disease11.0
5familial avascular necrosis of the femoral head10.9
6n syndrome10.8
7systemic lupus erythematosus10.6
8acute leukemia10.6
9bone marrow necrosis10.6
10slipped capital femoral epiphysis10.6
11back pain10.6
12graft versus host disease10.4
13gout10.4
14renal osteodystrophy10.4
15antiphospholipid syndrome10.4
16familial mediterranean fever10.4
17superior mesenteric artery syndrome10.4
18pituitary apoplexy10.4
19osteomalacia10.4
20spinal stenosis10.4
21bone lymphoma10.4
22femoral cancer10.4
23chronic myeloid leukemia10.4
24septic arthritis10.4
25fabry disease10.4
26legg-calve-perthes disease10.4
27metachondromatosis10.4
28osteomalacia, tumor-induced10.4
29osteonecrosis10.0BMP2
30myopia 610.0COL2A1
31polyneuropathy10.0TTR
32deficiency anemia10.0TTR
33thromboembolism10.0APOA1
34neuropathy10.0TTR
35synovitis10.0COL2A1
36sarcoma10.0BMP2
37carpal tunnel syndrome10.0TTR
38glaucoma10.0TTR
39cholestasis10.0LIPC
40gastric ulcer10.0FGF2
41gastritis10.0CAT
42goiter10.0CAT
43glomerulonephritis10.0CAT
44hyperuricemia10.0APOB
45complete lcat deficiency10.0APOA1
46retinoblastoma10.0BMP2
47eye disease10.0CAT
48malignant mesothelioma10.0FGF2
49pancreatitis10.0SOD1
50skin cancer10.0CAT

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608805

Drugs & Therapeutics for Avascular Necrosis of the Femoral Head

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
See all sources

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

Anatomical Context for Avascular Necrosis of the Femoral Head

Sources:
31LifeMap Discovery™
See all sources

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1TTR, FGF2, SOD1, COL2A1
2MP:00053908.7FGF2, VEGFA, COL2A1, BMP2
3MP:00053898.3APOB, BMP2, LIPC, VEGFA
4MP:00053768.1APOA1, LEP, LIPC, APOB, TTR, SOD1
5MP:00053707.5COL2A1, SOD1, APOA1, APOB, LEP, VEGFA
6MP:00053856.9LEP, APOB, APOA1, SOD1, COL2A1, BMP2

Publications for Avascular Necrosis of the Femoral Head

Genetic Variations for Avascular Necrosis of the Femoral Head

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Avascular Necrosis of the Femoral Head:

63
id Symbol AA change Variation SNP ID
1COL2A1p.Gly717SerVAR_023929
2COL2A1p.Gly1170SerVAR_023933

Expression for genes affiliated with Avascular Necrosis of the Femoral Head

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN
See all sources

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
29.7APOB, APOA1
39.7APOB, APOA1
49.5CAT, SOD1
59.5CAT, SOD1
6
Hide members
9.4APOA1, APOL1, APOB
7
Hide members
9.4TTR, APOA1, APOB
8
Hide members
9.4LIPC, APOB, APOA1
9
Hide members
9.3FGF2, BMP2, COL2A1, TTR
109.2CAT, APOA1, SOD1
119.0FGF2, VEGFA, COL2A1
12
Hide members
8.8VEGFA, APOA1, SOD1
138.8SOD1, CAT, APOA1, APOB
14
Hide members
8.4SOD1, VEGFA, APOB, APOA1
15
Hide members
7.7TTR, COL2A1, FGF2, VEGFA, BMP2, APOB

Compounds for genes affiliated with Avascular Necrosis of the Femoral Head

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 29IUPHAR, 50PharmGKB, 2BitterDB
See all sources

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

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1uric acid45 2411.6TTR
2alpha tocopherol4510.6TTR
3estrogen4510.2LIPC, TTR
4cycloheximide4510.2CAT, COL2A1
5resveratrol45 60 11 2413.1BMP2, TTR
6polyethylene glycol 6000459.9APOB, APOA1
7fpl 55712459.7CAT, SOD1
8retinyl palmitate45 2410.7APOA1, TTR, APOB
9tetrac459.7TTR, FGF2
10maxepa459.7APOA1, APOB
11nickel carbonate hydroxide459.7SOD1, CAT
12indomethacin45 60 29 1112.7BMP2, LEP, APOA1
13bathocuproine459.7SOD1, CAT
14ciprofibrate45 2910.6APOB, APOA1, CAT
15u 83836e459.6SOD1, CAT
16acipimox45 2910.5LEP, APOA1, APOB
17h2o2459.5LEP, FGF2, CAT
18tibolone459.4APOB, APOA1, LEP
19heparin45 29 11 2412.4LIPC, BMP2, VEGFA
20orlistat45 60 1111.4LEP, APOB, LIPC
21lovastatin45 50 60 29 1113.4APOA1, LIPC, APOB, BMP2
22bucillamine459.3FGF2, VEGFA, CAT
23intralipid459.3APOA1, APOB, LEP, LIPC
24pravastatin45 50 29 11 2413.2APOB, APOA1, LEP, BMP2
25fenofibrate45 50 1111.2LEP, APOB, APOA1, LIPC
26triacylglycerol459.2APOA1, APOB, LIPC, LEP
27dexamethasone45 50 29 1112.2BMP2, FGF2, VEGFA, COL2A1
28vitamin a45 11 2411.0FGF2, LIPC, APOB, APOA1, CAT
29serine459.0LEP, FGF2, COL2A1, BMP2, LIPC
30apocynin45 609.9CAT, SOD1, VEGFA
31carbohydrates458.9LIPC, FGF2, LEP, TTR
32tocopherol458.9SOD1, CAT, APOB, APOA1, TTR
33probucol45 119.9LIPC, APOB, CAT, SOD1, APOA1
34fibrinogen458.8LIPC, APOB, APOA1, TTR, LEP
35betacarotene458.7TTR, CAT, SOD1, LEP, APOB
36atorvastatin45 50 29 11 2412.7VEGFA, APOA1, APOB, BMP2, LIPC
37thyroxine45 249.6APOB, LEP, LIPC, APOA1, FGF2, TTR
38hyaluronic acid45 249.6TTR, BMP2, LEP, FGF2, VEGFA
39lactate458.6APOA1, APOB, CAT, TTR, SOD1, BMP2
40testosterone45 60 11 2411.5LIPC, TTR, BMP2, LEP, APOA1, APOB
41creatinine458.4APOA1, LEP, APOB, SOD1, TTR, BMP2
42pioglitazone45 50 29 1111.4APOA1, LEP, VEGFA, LIPC, APOB
43cholesterol45 29 11 2411.4BMP2, APOL1, TTR, LEP, LIPC, APOB
44genistein45 29 60 2 11 2413.3APOB, FGF2, TTR, APOA1, BMP2, VEGFA
45prostacyclin458.3APOA1, LEP, SOD1, VEGFA, FGF2
46simvastatin45 50 60 29 11 2413.3VEGFA, BMP2, APOA1, APOB
47arginine458.0BMP2, SOD1, COL2A1, HLA-DRB1, LIPC, LEP
48ascorbic acid45 248.9APOA1, SOD1, TTR, COL2A1, BMP2, LEP
49alanine457.8BMP2, HLA-DRB1, APOA1, SOD1, COL2A1, TTR
50lipid457.5LEP, LIPC, BMP2, APOB, APOL1, APOA1

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

Sources:
16Gene Ontology
See all sources

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:06012810.2BMP2, FGF2
3thyroid-stimulating hormone-secreting cell differentiationGO:06012910.2FGF2, BMP2
4cellular response to BMP stimulusGO:07177310.1COL2A1, BMP2
5high-density lipoprotein particle remodelingGO:03437510.1APOA1, LIPC
6bone mineralization involved in bone maturationGO:03563010.0LEP, BMP2
7lipoprotein biosynthetic processGO:04215810.0APOA1, APOB
8regulation of intestinal cholesterol absorptionGO:03030010.0APOA1, LEP
9reverse cholesterol transportGO:04369110.0APOA1, LIPC
10low-density lipoprotein particle remodelingGO:0343749.9APOB, LIPC
11cholesterol transportGO:0303019.9APOB, APOA1
12triglyceride homeostasisGO:0703289.9APOA1, LIPC
13response to vitamin EGO:0331979.8CAT, LEP
14lipoprotein metabolic processGO:0421579.8APOB, APOL1, APOA1
15positive regulation of p38MAPK cascadeGO:19007459.8BMP2, VEGFA
16retinoid metabolic processGO:0015239.7APOB, APOA1, TTR
17phototransduction, visible lightGO:0076039.7TTR, APOA1, APOB
18cholesterol effluxGO:0333449.7APOB, APOA1
19cholesterol homeostasisGO:0426329.7LIPC, APOA1, APOB
20triglyceride catabolic processGO:0194339.7APOB, LIPC
21extracellular matrix organizationGO:0301989.6COL2A1, BMP2, FGF2, TTR
22activation of MAPK activityGO:0001879.6FGF2, BMP2, SOD1
23positive regulation of cytokine productionGO:0018199.5SOD1, LEP
24cell migration involved in sprouting angiogenesisGO:0020429.5VEGFA, FGF2
25positive regulation of blood vessel endothelial cell migrationGO:0435369.4VEGFA, FGF2
26positive regulation of endothelial cell proliferationGO:0019389.4BMP2, VEGFA, FGF2
27positive regulation of cell divisionGO:0517819.2VEGFA, CAT, FGF2
28platelet degranulationGO:0025769.1VEGFA, APOA1, SOD1
29artery morphogenesisGO:0488448.9APOB, VEGFA
30response to hypoxiaGO:0016668.8CAT, BMP2, VEGFA, LEP
31cholesterol metabolic processGO:0082038.6LEP, LIPC, APOB, APOL1, APOA1, CAT
32blood coagulationGO:0075968.3SOD1, VEGFA, APOA1, APOB

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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  • Proteins
  • Lysates
  • Antibodies

Sources for Avascular Necrosis of the Femoral Head

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet