MCID: OST002
MIFTS: 71

Osteoporosis malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Osteoporosis

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Osteoporosis, Aliases & Descriptions:

Name: Osteoporosis 45 30 9 20 11 43 22 32 3 60
Osteoporosis, Involutional 45 10
Osteoporosis, Postmenopausal, Susceptibility 45
 
Osteoporosis, Postmenopausal 45
Osteoporosis Postmenopausal 43


Classifications:

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


External Ids:

OMIM45 166710
Disease Ontology9 DOID:11476
MeSH33 D010024
ICD9CM27 733.00, 733.0
NCIt38 C3298
ICD1025 M80.0, M81.0

Summaries for Osteoporosis

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MedlinePlus:32 Osteoporosis makes your bones weak and more likely to break. anyone can develop osteoporosis, but it is common in older women. as many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. risk factors include getting older being small and thin having a family history of osteoporosis taking certain medicines being a white or asian woman having osteopenia, which is low bone density osteoporosis is a silent disease. you might not know you have it until you break a bone. a bone mineral density test is the best way to check your bone health. to keep bones strong, eat a diet rich in calcium and vitamin d, exercise and do not smoke. if needed, medicines can also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Osteoporosis, also known as osteoporosis, involutional, is related to idiopathic juvenile osteoporosis and arthritis, and has symptoms including autosomal dominant inheritanceand osteoporosis. An important gene associated with Osteoporosis is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Wnt signaling network. The drugs cholecalciferol and fluorides and the compounds 9(S)-HPODE and 15hpete have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Disease Ontology:9 A bone resorption disease that has material basis in a drop in estrogen or testosterone which results in the thinning of bone tissue and loss of bone mineral density.

Wikipedia:63 Osteoporosis (\"porous bones\", from Greek: ??????/ostoun meaning \"bone\" and ?????/poros meaning... more...

Description from OMIM:45 166710

Related Diseases for Osteoporosis

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Diseases in the Osteoporosis family:

Osteoporosis, Early-Onset Autosomal Dominant Juvenile Primary Osteoporosis

Diseases related to Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 472)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic juvenile osteoporosis31.9LRP5, COL1A1
2arthritis31.4VDR, ALOX12, ALOX5, ALOX15
3osteoarthritis31.4VDR, LRP5, COL1A1, COL1A2, ALOX5AP, ALOX5
4osteogenesis imperfecta31.2COL1A2, COL1A1, LRP5
5osteomalacia31.2KL, VDR
6breast cancer31.0VDR, ESR1, WNT1, CALCR, ALOX12, ALOX5AP
7prostate cancer31.0VDR, UGT2B17, PTGER4, ESR1, CALCR, ALOX12
8otosclerosis30.8COL1A1, COL1A2
9atherosclerosis30.8ALOX15, ALOX5, ALOX5AP, ALOX12
10nephrolithiasis30.7SLC34A1, VDR
11dentinogenesis imperfecta30.5COL1A2, COL1A1
12osteogenesis imperfecta, type iii30.5COL1A1, COL1A2
13asthma30.5VDR, PTGER4, ALOX12, ALOX5AP, ALOX5, ALOX15
14hypophosphatemia30.4VDR, KL, SLC34A1
15hyperostosis30.4COL1A1, LRP5
16secondary syphilis30.4VDR, LRP5, PTGER4
17hypophosphatemic rickets, x-linked dominant30.4SLC34A1, VDR
18ehlers-danlos syndrome30.1COL1A2, COL1A1
19osteoporosis-pseudoglioma syndrome10.7
20col1a1/2-related osteogenesis imperfecta10.6COL1A1, COL1A2
21intervertebral disc disease10.6COL1A1, VDR
22osteogenesis imperfecta, type ii10.6COL1A1, COL1A2
23osteogenesis imperfecta, type i10.6COL1A2, COL1A1
24osteogenesis imperfecta, type iv10.6COL1A2, COL1A1
25ehlers-danlos syndrome, type i10.5COL1A1, COL1A2
26hyperphosphatemia10.5SLC34A1, KL, VDR
27pulmonary fibrosis10.5ALOX5, COL1A2, COL1A1
28rheumatoid arthritis10.5
29psoriasis10.5ALOX5, ALOX12, VDR
30osteosarcoma, somatic10.4VDR, LRP5, ESR1, ALOX5AP, ALOX5
31stroke, ischemic10.4NPPB, ALOX5, ALOX5AP, ALOX12
32mastocytosis10.4
33pulmonary hypertension10.4ALOX5, NPPB
34systemic scleroderma10.4COL1A2, COL1A1
35hajdu-cheney syndrome10.4
36bone fracture10.4
37systemic mastocytosis10.4
38thalassemia10.4
39osteoporotic fracture10.4
40colorectal cancer10.4VDR, LRP5, PTGER4, WNT1, ALOX12, ALOX15
41diabetes mellitus, insulin-dependent10.4NPPB, ALOX12, LRP5, VDR
42prostatitis10.4
43obesity10.3
44osteonecrosis10.3
45juvenile primary osteoporosis10.3
46insulin-like growth factor i10.3
47periodontitis10.3
48hyperparathyroidism10.3
49amenorrhea10.3
50osteonecrosis of the jaw10.3

Graphical network of the top 20 diseases related to Osteoporosis:



Diseases related to osteoporosis

Symptoms for Osteoporosis

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Symptoms by clinical synopsis from OMIM:

166710

Clinical features from OMIM:

166710

HPO human phenotypes related to Osteoporosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 osteoporosis HP:0000939

Drugs & Therapeutics for Osteoporosis

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Drug clinical trials:

Search ClinicalTrials for Osteoporosis

Search NIH Clinical Center for Osteoporosis

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Osteoporosis

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Genetic tests related to Osteoporosis:

id Genetic test Affiliating Genes
1 Osteoporosis20 22 VDR

Anatomical Context for Osteoporosis

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MalaCards organs/tissues related to Osteoporosis:

31
Bone, Testes, Skin, Breast, Prostate, Bone marrow, Heart, Liver, Thyroid, Endothelial, Kidney, Whole blood, Spinal cord, Adipocyte, Lung, Monocytes, T cells, Brain, Skeletal muscle, Uterus, B cells, Pineal, Pituitary

Animal Models for Osteoporosis or affiliated genes

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Publications for Osteoporosis

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Articles related to Osteoporosis:

(show top 50)    (show all 2202)
idTitleAuthorsYear
1
IOF Regionals - 5(th) Asia-Pacific Osteoporosis Meeting : Oral Communications. (25391342)
2014
2
Sclerostin Inhibition for Osteoporosis - A New Approach. (24382003)
2014
3
Osteoporosis treatment and prevention for postmenopausal women: current and future therapeutic options. (24100598)
2013
4
Osteoporosis after stem cell transplantation. (24202854)
2013
5
The effect of short-term low-energy ultraviolet B irradiation on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis: a randomized single-blinded controlled clinical trial. (24364223)
2013
6
Osteoporosis and RANKL signal]. (21814019)
2011
7
Prevention of premature ovarian failure and osteoporosis induced by irradiation using allogeneic ovarian/bone marrow transplantation. (20177340)
2010
8
Anabolics in osteoporosis: the emerging therapeutic tool. (20205677)
2010
9
Genetic aspects of osteopenia/osteoporosis in ankylosing spondylitis]. (19938354)
2009
10
Osteoporosis management among residents living in long-term care. (19209376)
2009
11
Austrian guidance for the pharmacological treatment of osteoporosis in postmenopausal women--update 2009]. (19484202)
2009
12
Emerging treatments for postmenopausal osteoporosis - focus on denosumab. (19554095)
2009
13
Short-term menatetrenone therapy increases gamma-carboxylation of osteocalcin with a moderate increase of bone turnover in postmenopausal osteoporosis: a randomized prospective study. (19172219)
2009
14
Salmon calcitonin in prevention of osteoporosis in maintenance dialysis patients. (18713548)
2008
15
Genomic approaches to bone and joint diseases. An order made medical system for management of osteoporosis: an attempt using genetic information]. (18245894)
2008
16
Effect of risedronate on biochemical marker of bone resorption in postmenopausal women with osteoporosis or osteopenia. (18382907)
2008
17
Acute changes in serum osteoprotegerin and receptor activator for nuclear factor-kappaB ligand levels in women with established osteoporosis treated with teriparatide. (18299476)
2008
18
Effects of PTH and alendronate on type I collagen isomerization in postmenopausal women with osteoporosis: the PaTH study. (18442311)
2008
19
Male osteoporosis with vertebral fractures? Look for ankylosing spondylitis! A report of 10 cases. (17918785)
2007
20
Osteoprotegerin as a potential therapy for osteoporosis. (16515766)
2006
21
Strategies for the prevention and treatment of osteoporosis during early postmenopause. (16448872)
2006
22
The search for human osteoporosis genes. (16675885)
2006
23
Changes in serum fibroblast growth factor 2 in patients with glucocorticoid-induced osteoporosis treated with human parathyroid hormone (1-34). (16133640)
2005
24
Variations in genome-wide gene expression in identical twins - a study of primary osteoblast-like culture from female twins discordant for osteoporosis. (15176972)
2004
25
Vitamin K in combination with other biochemical markers to diagnose osteoporosis. (15849068)
2004
26
A comprehensive review of treatments for postmenopausal osteoporosis. (12577179)
2003
27
Autoimmune polyglandular syndrome type 2 and osteoporosis in a 69 years old patient]. (16737004)
2003
28
Potential use of HMG-CoA reductase inhibitors for osteoporosis. (11918519)
2002
29
Efficacy of HMG-CoA reductase inhibitors in treating osteoporosis. (11885403)
2002
30
Pros and cons of existing treatment modalities in osteoporosis: a comparison between tibolone, SERMs and estrogen (+/-progestogen) treatments. (12650712)
2002
31
Possible pathogenetic role of new cytokines in postmenopausal osteoporosis and changes during calcitonin plus calcium therapy. (12215865)
2002
32
Haptoglobin genotype as a risk factor for postmenopausal osteoporosis. (11565553)
2001
33
Statins and their potential for osteoporosis. (11728917)
2001
34
Association of polymorphisms of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis. (11740340)
2001
35
Osteoporosis: evaluation and treatment. (10984823)
2000
36
Osteoporosis in rheumatoid arthritis--significance of alfacalcidol in prevention and therapy]. (10769429)
2000
37
Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. (10999795)
2000
38
Collagen type I alpha1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis: improved detection of Sp1 binding site polymorphism in the collagen type 1 gene. (10352003)
1999
39
The relationships between the degree of beta-isomerization of type I collagen degradation products in the urine and aging, menopause and osteoporosis with fractures. (10550459)
1999
40
Lithium carbonate therapy is not a risk factor for osteoporosis. (9808330)
1998
41
Osteoporosis after spinal cord injury. (9881730)
1998
42
Diagnosing and managing polymyalgia rheumatica and temporal arteritis. Patients starting steroids should be given advice on risk of osteoporosis. (9329330)
1997
43
Genetic factors in osteoporosis. What are the implications for prevention and treatment? (9359020)
1997
44
Prevention of corticosteroid osteoporosis. A comparison of calcium, calcitriol, and calcitonin. (7684512)
1993
45
Peak bone mass and osteoporosis prevention. (8499027)
1993
46
Prevention of osteoporosis with nasal salmon calcitonin: effect of anti-salmon calcitonin antibody formation. (8400608)
1993
47
Diagnosis and treatment of osteoporosis. (8476248)
1993
48
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
1991
49
Formation of neutralizing antibodies during intranasal synthetic salmon calcitonin treatment of postmenopausal osteoporosis. (1790395)
1991
50
Calcitonin, estradiol, and hydroxyproline as parameters in the early diagnosis of involutional osteoporosis. The importance of the "second calcitonin phenomenon". (2383444)
1990

Variations for Osteoporosis

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UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis:

62
id Symbol AA change Variation ID SNP ID
1WNT1p.Cys218GlyVAR_069629
2WNT1p.Arg235TrpVAR_069630

Clinvar genetic disease variations for Osteoporosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.1981G> A (p.Gly661Ser)single nucleotide variantPathogenicrs72658152GRCh37Chr 7, 94047820: 94047820

Expression for genes affiliated with Osteoporosis

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Search GEO for disease gene expression data for Osteoporosis.

Pathways for genes affiliated with Osteoporosis

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Pathways related to Osteoporosis according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.4COL1A1, COL1A2
210.4LRP5, WNT1
310.3ALOX5, ALOX5AP
410.3VDR, COL1A1, COL1A2
510.3COL1A1, VDR, CALCR
610.3ALOX15, COL1A2, COL1A1
710.3ESR1, COL1A2, VDR
810.3WNT1, PTGER4, LRP5
910.2KL, ESR1, VDR
10
Show member pathways
aspirin triggered resolvin E biosynthesis36
10.1ALOX5AP, ALOX5, ALOX15, ALOX12
11
Show member pathways
10.1ALOX12, ALOX5AP, ALOX5, ALOX15
12
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
10.0PTGER4, COL1A1, COL1A2, ALOX12, NPPB, ESR1

Compounds for genes affiliated with Osteoporosis

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Compounds related to Osteoporosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
19(S)-HPODE2410.7ALOX5, ALOX15
215hpete4310.7ALOX15, ALOX5
3nppb28 43 5912.6NPPB, COL1A2, COL1A1
413-hpode4310.6ALOX12, ALOX5, ALOX15
515-hydroxyeicosatetraenoic acid4310.6ALOX15, ALOX5, ALOX12
6xbai4310.6VDR, ESR1, COL1A1, COL1A2
712-hydroxyeicosatetraenoic acid4310.6ALOX5, ALOX5AP, ALOX12
85-hydroxyeicosatetraenoic acid4310.6ALOX5AP, ALOX5
9ltc44310.6ALOX5, ALOX5AP, ALOX12
10bw-b 70c5910.6ALOX12, ALOX5AP, ALOX5, ALOX15
11bay-x 10055910.6ALOX12, ALOX5AP, ALOX5, ALOX15
12esculetin4310.6ALOX12, ALOX5
13mk 88659 4311.6ALOX12, ALOX5AP, ALOX5, ALOX15
14zileuton43 59 28 1213.5ALOX15, ALOX5, ALOX5AP, ALOX12
15baicalein43 5911.5ALOX12, ALOX5AP, ALOX5, ALOX15
1613-hydroperoxyoctadecadienoic acid4310.5ALOX12, ALOX5
17ndga4310.5ALOX12, ALOX5AP, ALOX5
18thromboxane43 2411.5PTGER4, ALOX12, ALOX5AP, ALOX5
19pgd24310.5ALOX5, ALOX12, PTGER4
20boswellic acids4310.5ALOX5, ALOX12
21linoleic acid28 43 2412.5ALOX15, ALOX5, ALOX5AP, ALOX12
22n-(4-hydroxyphenyl)retinamide4310.5ALOX15, ALOX12, ESR1
231,25 dihydroxy vitamin d34310.5VDR, LRP5, COL1A1, CALCR, ALOX5AP, SLC34A1
24calcitriol43 59 24 1213.5SLC34A1, ALOX5, CALCR, VDR
25etya4310.4ALOX12, ALOX5
26prostacyclin4310.4NPPB, ALOX5, ALOX12, PTGER4
27aspirin43 49 28 2413.4VDR, ALOX12, ALOX5AP, ALOX5, NPPB
28aspartate4310.4VDR, COL1A1, COL1A2, ALOX12, ALOX5, SLC9A3R1
29prostaglandin4310.4ALOX5, ALOX5AP, ALOX12, PTGER4
30chloramphenicol43 2 49 1213.4VDR, ESR1, COL1A1, COL1A2
31nppa4310.4COL1A1, COL1A2
3212-hpete4310.4ALOX12, ALOX5
33genistein43 28 59 2 24 1215.4VDR, ESR1, ALOX12, ALOX5, NPPB
34indomethacin43 28 59 1213.4PTGER4, ALOX12, ALOX5AP, ALOX5, NPPB
35arachidonic acid43 28 24 1213.4PTGER4, ALOX12, ALOX5AP, ALOX5, ALOX15
36thymidine43 2411.4VDR, COL1A1, COL1A2, ALOX12, NPPB
37cycloheximide4310.4VDR, UGT2B17, ESR1, ALOX12, ALOX5AP, ALOX5
38iron43 2411.4ALOX12, ALOX5AP, ALOX5, ALOX15, NPPB
39carbodiimide4310.4COL1A1, COL1A2
40eugenol43 28 2412.3ALOX5, UGT2B17
41vegf4310.3PTGER4, ESR1, COL1A1, ALOX12, ALOX5, KL
42vitamin d4310.3VDR, LRP5, ESR1, COL1A1, COL1A2, CALCR
43apai4310.2VDR, COL1A1
44dexamethasone43 49 28 1213.2VDR, PTGER4, COL1A1, CALCR, ALOX12, ALOX5AP
45pge24310.2VDR, PTGER4, COL1A1, ALOX12, ALOX5AP, ALOX5
46retinoic acid43 2411.2VDR, UGT2B17, ESR1, WNT1, COL1A1, ALOX12
47tyrosine4310.2PTGER4, WNT1, COL1A2, CALCR, ALOX12, KL
48procollagen4310.0NPPB, COL1A2, COL1A1
49estrogen439.9SLC9A3R1, VDR, UGT2B17, LRP5, PTGER4, ESR1
50calcium43 49 24 1212.9COL1A2, COL1A1, PTGER4, LRP5, VDR, CALCR

GO Terms for genes affiliated with Osteoporosis

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Cellular components related to Osteoporosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:000558410.5COL1A2, COL1A1
2endoplasmic reticulum lumenGO:000578810.3COL1A2, COL1A1, WNT1
3extracellular spaceGO:000561510.0WNT1, COL1A1, COL1A2, ALOX5, KL, NPPB
4membraneGO:001602010.0UGT2B17, ESR1, ALOX12, ALOX15, SLC9A3R1
5plasma membraneGO:00058869.7THSD7A, LRP5, PTGER4, ESR1, WNT1, CALCR
6extracellular regionGO:00055769.7THSD7A, WNT1, COL1A1, COL1A2, KL, NPPB

Biological processes related to Osteoporosis according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1mammary gland branching involved in pregnancyGO:006074510.6VDR, ESR1
2leukotriene production involved in inflammatory responseGO:000254010.6ALOX5, ALOX5AP
3lipoxin A4 biosynthetic processGO:0200130310.6ALOX15, ALOX12
4hepoxilin biosynthetic processGO:005112210.5ALOX15, ALOX12
5skin morphogenesisGO:004358910.5COL1A2, COL1A1
6lipoxin metabolic processGO:0200130010.5ALOX12, ALOX5AP, ALOX5
7leukotriene metabolic processGO:000669110.5ALOX5AP, ALOX5, ALOX15
8regulation of blood pressureGO:000821710.5LRP5, COL1A2, NPPB
9protein heterotrimerizationGO:007020810.5COL1A2, COL1A1
10response to estradiolGO:003235510.5SLC34A1, COL1A1, ESR1
11lipoxygenase pathwayGO:001937210.4ALOX15, ALOX5, ALOX5AP, ALOX12
12arachidonic acid metabolic processGO:001936910.4ALOX15, ALOX5, ALOX5AP, ALOX12
13positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.4LRP5, ESR1, WNT1
14negative regulation of cell-substrate adhesionGO:001081210.4WNT1, COL1A1
15bone remodelingGO:004684910.3SLC34A1, LRP5
16leukotriene biosynthetic processGO:001937010.3ALOX5, ALOX5AP
17skeletal system developmentGO:000150110.2VDR, COL1A1, COL1A2
18Wnt signaling pathwayGO:001605510.0SLC9A3R1, WNT1, LRP5

Molecular functions related to Osteoporosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:000550610.2ALOX15, ALOX5, ALOX12
2arachidonate 12-lipoxygenase activityGO:000405210.2ALOX12, ALOX15
3platelet-derived growth factor bindingGO:004840710.1COL1A2, COL1A1
4protein bindingGO:00055159.5SLC34A1, VDR, LRP5, PTGER4, ESR1, COL1A1

Products for genes affiliated with Osteoporosis

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Sources for Osteoporosis

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3CDC
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29KEGG
33MeSH
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39NDF-RT
42NINDS
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46OMIM via Orphanet
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51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet