OSTEOP
MCID: OST002
MIFTS: 82

Osteoporosis (OSTEOP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Osteoporosis

MalaCards integrated aliases for Osteoporosis:

Name: Osteoporosis 57 11 75 73 28 53 5 41 43 14 36 63 38 16 71 33
Postmenopausal Osteoporosis 73 28 5 16 31 33
Osteoporosis, Postmenopausal 57 71
Bone Mineral Density Variation Qtl, Osteoporosis 57
Bone Mineral Density, Quantitative Trait Locus 38
Bone Mineral Density Quantitative Trait Locus 57
Osteoporosis, Postmenopausal, Susceptibility 57
Osteoporosis, Susceptibility to 57
Osteoporosis Postmenopausal 53
Osteoporosis, Involutional 57
Involutional Osteoporosis 73
Idiopathic Osteoporosis 33
Osteoporosis, Senile 71
Bone Rarefaction Nos 33
Senile Osteoporosis 73
Type 1 Osteoporosis 33
Osteop 73
Bmnd 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:11476
OMIM® 57 166710
ICD9CM 34 733.0
MeSH 43 D010024
NCIt 49 C3298
SNOMED-CT 68 156825006
SNOMED-CT via HPO 69 64859006
UMLS 71 C0029456 C0029458 C0029459

Summaries for Osteoporosis

MedlinePlus: 41 Osteoporosis is a disease that thins and weakens the bones. Your bones become fragile and fracture (break) easily, especially the bones in the hip, spine, and wrist. In the United States, millions of people either already have osteoporosis or are at high risk due to low bone mass. Anyone can develop osteoporosis, but it is more common in older women. 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 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. It is also important to try to avoid falling down. Falls are the number one cause of fractures in older adults. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary: Osteoporosis, also known as postmenopausal osteoporosis, is related to osteoporosis, juvenile and bone mineral density quantitative trait locus 15, and has symptoms including tremor, back pain and angina pectoris. An important gene associated with Osteoporosis is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Breast cancer pathway and Vitamin D receptor pathway. The drugs Calcium carbonate and Pioglitazone have been mentioned in the context of this disorder. Affiliated tissues include Bone, and related phenotypes are osteoporosis and homeostasis/metabolism

PubMed Health : 63 Osteoporosis: Having weak bones that easily break is a sign of osteoporosis. It is normal for your bones to become less dense as you grow older, but osteoporosis speeds up this process. This condition can particularly lead to problems in older age because broken bones do not heal as easily in older people as they do in young people, and the consequences are more serious. In general, osteoporosis is more common in women, and they often develop it at a younger age. Getting older does not mean that you will automatically develop osteoporosis, but the risk does increase with age. People over the age of 70 are more likely to have low bone density. Plus, the risk of falling increases in old age, which then also makes fractures more likely. But there are several things you can do to protect and strengthen your bones – even if you are already older.

UniProtKB/Swiss-Prot: 73 A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.

Disease Ontology: 11 A bone resorption disease characterized by decreased density of normally mineralized bone which results in the thinning of bone tissue and decreased mechanical strength.

Wikipedia: 75 Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural... more...

More information from OMIM: 166710

Related Diseases for Osteoporosis

Diseases in the Osteoporosis family:

Osteoporosis, Juvenile Juvenile Primary Osteoporosis
Lrp5-Related Primary Osteoporosis

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

(show top 50) (show all 1428)
# Related Disease Score Top Affiliating Genes
1 osteoporosis, juvenile 34.1 WNT1 TNFSF11 PLS3 LRP5 IFITM5 COL1A2
2 bone mineral density quantitative trait locus 15 33.8 PDLIM4 CALCR
3 osteoporosis-pseudoglioma syndrome 33.7 WNT1 TNFSF11 LRP5
4 glucocorticoid-induced osteoporosis 33.6 TNFSF11 LRP5 ESR1 CALCA BGLAP
5 bone disease 33.5 TNFSF11 TNFRSF11B TNFRSF11A LRP5 ESR1 DANCR
6 rickets 32.8 CALCA BGLAP ALPL
7 hyperparathyroidism 32.8 TNFSF11 TNFRSF11B CALCA BGLAP
8 osteopetrosis 32.7 TNFSF11 TNFRSF11B TNFRSF11A LRP5 CALCR CALCA
9 cleidocranial dysplasia 1 32.5 TNFSF11 COL1A1 BGLAP ALPL
10 brittle bone disorder 32.4 WNT1 TNFSF11 TNFRSF11B TNFRSF11A PLS3 LRP5
11 osteonecrosis 32.4 TNFRSF11B LRP5 ESR1 BGLAP
12 osteomalacia 32.3 TNFSF11 CALCA BGLAP ALPL
13 mammary paget's disease 32.2 TNFSF11 TNFRSF11B TNFRSF11A ESR1 CALCA BGLAP
14 kidney disease 32.1 WNT1 TNFSF11 TNFRSF11B LRP5 ESR1 CALCA
15 chronic kidney disease 32.1 TNFSF11 TNFRSF11B ESR1 CALCA BGLAP ALPL
16 primary hyperparathyroidism 32.0 TNFSF11 COL1A1 CALCA BGLAP
17 sclerosteosis 31.9 WNT1 TNFSF11 LRP5 COL1A1 BGLAP
18 scoliosis 31.9 TNFSF11 TNFRSF11B TNFRSF11A ESR1 COL1A2 COL1A1
19 secondary hyperparathyroidism 31.9 TNFRSF11B CALCA BGLAP
20 osteogenic sarcoma 31.9 TNFSF11 TNFRSF11B TNFRSF11A ESR1 DANCR BGLAP
21 spondyloarthropathy 1 31.8 TNFSF11 TNFRSF11B BGLAP
22 paget's disease of bone 31.7 TNFSF11 TNFRSF11B TNFRSF11A CALCA BGLAP
23 connective tissue disease 31.7 TNFSF11 ESR1 COL1A2 COL1A1 CALCA BGLAP
24 arthropathy 31.7 TNFSF11 TNFRSF11B TNFRSF11A ALPL
25 beta-thalassemia 31.7 TNFSF11 TNFRSF11B ESR1 BGLAP
26 type 1 diabetes mellitus 31.7 TNFSF11 TNFRSF11B LRP5 CALCA BGLAP
27 renal osteodystrophy 31.6 TNFSF11 TNFRSF11B CALCA BGLAP
28 sclerosteosis 1 31.6 TNFRSF11B BGLAP
29 endosteal hyperostosis, autosomal dominant 31.5 TNFSF11 TNFRSF11B LRP5 COL1A2 COL1A1
30 osteochondrodysplasia 31.5 WNT1 TNFSF11 TNFRSF11B PLS3 LRP5 IFITM5
31 hyperostosis 31.4 TNFRSF11B LRP5 COL1A1 ALPL
32 van buchem disease 31.4 WNT1 TNFSF11 LRP5 COL1A1 BGLAP
33 osteomyelitis 31.4 TNFSF11 TNFRSF11A CALCA ALPL
34 ankylosis 31.2 TNFSF11 TNFRSF11B BGLAP ALPL
35 spinal stenosis 31.2 COL1A2 COL1A1 CALCA
36 fibrous dysplasia 31.2 TNFSF11 TNFRSF11A CALCA BGLAP
37 osteogenesis imperfecta, type i 31.1 PLS3 IFITM5 COL1A2 COL1A1 BGLAP
38 scleroderma, familial progressive 31.1 COL1A2 COL1A1
39 periodontitis, chronic 31.1 TNFSF11 TNFRSF11B
40 marfan syndrome 31.0 ESR1 COL1A2 COL1A1
41 otosclerosis 31.0 TNFSF11 TNFRSF11B COL1A2 COL1A1 CALCA
42 hypophosphatasia, adult 30.9 COL1A2 ALPL
43 ehlers-danlos syndrome, arthrochalasia type, 1 30.9 COL1A2 COL1A1
44 osteogenesis imperfecta, type vi 30.8 TNFSF11 IFITM5 COL1A2 COL1A1
45 bone resorption disease 30.7 TNFSF11 LRP5 ESR1 COL1A2 COL1A1 CALCA
46 osteitis fibrosa 30.7 CALCA BGLAP
47 osteogenesis imperfecta, type xv 30.6 WNT1 PLS3 LRP5
48 dental fluorosis 30.6 COL1A2 BGLAP
49 osteogenesis imperfecta, type iii 30.5 WNT1 IFITM5 COL1A2 COL1A1 BGLAP
50 tooth agenesis 30.4 WNT1 LRP5 COL1A2 COL1A1

Comorbidity relations with Osteoporosis via Phenotypic Disease Network (PDN): (show top 50) (show all 85)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Alzheimer Disease, Familial, 1
Anxiety Aortic Atherosclerosis
Aortic Valve Disease 1 Asthma
Benign Essential Hypertension Bronchiectasis
Bronchitis Bronchopneumonia
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Chronic Pulmonary Heart Disease
Chylomicron Retention Disease Conjunctivitis
Conn's Syndrome Cystitis
Decubitus Ulcer Deficiency Anemia
Dermatomycosis Dyskinesia of Esophagus
Dysthymic Disorder Esophagitis
Femoral Vein Thrombophlebitis Gastroesophageal Reflux
Generalized Anxiety Disorder Generalized Atherosclerosis
Heart Disease Hyperparathyroidism
Hypertension, Essential Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome
Hypothyroidism Idiopathic Interstitial Pneumonia
Inflammatory Bowel Disease 1 Intervertebral Disc Disease
Intestinal Obstruction Iron Deficiency Anemia
Irritable Bowel Syndrome Macular Degeneration, Age-Related, 1
Major Depressive Disorder Marasmus
Monoclonal Paraproteinemia Neurogenic Bladder
Nutritional Deficiency Disease Opiate Dependence
Oral Candidiasis Osteoarthritis

Graphical network of the top 20 diseases related to Osteoporosis:



Diseases related to Osteoporosis

Symptoms & Phenotypes for Osteoporosis

Human phenotypes related to Osteoporosis:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 30 HP:0000939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skel:
postmenopausal osteoporosis

Clinical features from OMIM®:

166710 (Updated 08-Dec-2022)

UMLS symptoms related to Osteoporosis:


tremor; back pain; angina pectoris; sciatica; equilibration disorder; muscle cramp; pelvic pain

MGI Mouse Phenotypes related to Osteoporosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ALPL BGLAP CALCA CALCR COL1A1 COL1A2
2 limbs/digits/tail MP:0005371 10.21 ALPL CALCR COL1A1 COL1A2 ESR1 IFITM5
3 behavior/neurological MP:0005386 10.13 ALPL CALCA CALCR COL1A1 COL1A2 ESR1
4 immune system MP:0005387 10.03 ALPL BGLAP CALCR COL1A1 COL1A2 ESR1
5 craniofacial MP:0005382 9.97 ALPL COL1A1 IFITM5 LRP5 TNFRSF11A TNFRSF11B
6 skeleton MP:0005390 9.83 ALPL BGLAP CALCA CALCR COL1A1 COL1A2
7 respiratory system MP:0005388 9.7 ALPL CALCA COL1A1 ESR1 TNFRSF11A TNFSF11
8 hematopoietic system MP:0005397 9.44 ALPL BGLAP CALCR COL1A1 COL1A2 ESR1

Drugs & Therapeutics for Osteoporosis

PubMed Health treatment related to Osteoporosis: 63

Even if someone already has osteoporosis , it is important for them to do regular exercise and get enough calcium and vitamin D . In Germany, statutory health insurances cover the cost of calcium or vitamin D supplements if a doctor has prescribed them. Osteoporosis can be treated with several drugs designed to slow bone loss and increase the production of new bone tissue . These include bisphosphonates and some hormonal or hormone -like medications. These kinds of drugs can have different types of side effects, though, and may not be suitable for everyone. They are only considered if someone has already broken a bone, or if their risk of bone fractures is high – for example, if their bone density is very low or if they have a combination of different risk factors, like low body weight, old age and a higher risk of falling . Hormone products, like those used to treat menopause symptoms , can also lower the risk of osteoporosis -related bone fractures when taken over the long term. But long-term hormone therapy during or after menopause increases the risk of cardiovascular diseases and breast cancer . For this reason it is only rarely recommended as treatment for osteoporosis. The pros and cons of this treatment should be carefully weighed.

Drugs for Osteoporosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 382)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved, Investigational Phase 4 471-34-1
2
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
3
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
6
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 2791 5311051 32798
7
Linagliptin Approved Phase 4 668270-12-0 57389748 10096344
8
Zoledronic acid Approved Phase 4 118072-93-8 68740
9
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850 155817470
10
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
11
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
12
Tetracycline Approved, Vet_approved, Withdrawn Phase 4 60-54-8 5353990
13
Bazedoxifene Approved, Investigational Phase 4 198481-32-2 154257
14
Medroxyprogesterone acetate Approved, Investigational Phase 4 520-85-4, 71-58-9 6279 10631
15
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
16
Polyestradiol phosphate Approved Phase 4 28014-46-2
17
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
18
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
19 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
20
Pamidronic acid Approved Phase 4 40391-99-9 4674
21
Demeclocycline Approved Phase 4 127-33-3 5311063
22
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
23
Lactitol Approved, Investigational Phase 4 585-86-4 157355
24
Tibolone Approved, Investigational Phase 4 5630-53-5 5470 444008
25
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
26
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
27
Esomeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6, 119141-88-7 9568614 4594
28
Acetaminophen Approved Phase 4 103-90-2 1983
29
Atorvastatin Approved Phase 4 134523-00-5 60823
30
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
31
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
32
Gliclazide Approved Phase 4 21187-98-4 3475
33
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
34
Abaloparatide Approved, Investigational Phase 4 247062-33-5
35
Cinacalcet Approved Phase 4 226256-56-0 156419
36
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
37
Dolutegravir Approved Phase 4 1051375-16-6 57414794 54726191
38
Racivir Approved, Investigational Phase 4 143491-57-0, 143491-54-7 60877
39
Pravastatin Approved Phase 4 81093-37-0 54687
40
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
41
Denosumab Approved Phase 4 615258-40-7
42
Raloxifene Approved, Investigational Phase 4 82640-04-8, 84449-90-1 5035
43
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
44
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
45
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
46
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
47
Menatetrenone Investigational Phase 4 56973-41-2, 863-61-6 5282367
48
Tenofovir Experimental, Investigational Phase 4 147127-20-6, 202138-50-9 464205 6398764
49 Vasoconstrictor Agents Phase 4
50 Hydroxycholecalciferols Phase 4

Interventional clinical trials:

(show top 50) (show all 1416)
# Name Status NCT ID Phase Drugs
1 Comparación de la Eficacia y Seguridad clínicas de Osteofortil Respecto de Forteo Unknown status NCT01945788 Phase 4 Teriparatide (rDNA origin)
2 Effect of Mechanical Loading With PTH on Cortical Bone Unknown status NCT03232476 Phase 4
3 Generic Zoledronic Acid Versus Original Zoledronic Acid: A Multicenter, Randomized, Open, Paralled-controlled Clinical Postmenopausal Osteoporotic Women Efficacy and Safety Research. Unknown status NCT03158246 Phase 4 Generic Zoledronic Acid;Original Zoledronic Acid
4 Evaluation of the Influence of Alendronate on Wound Healing After Dental Implants in Patients With Osteoporosis Unknown status NCT00727493 Phase 4 alendronate once weekly 70mg;placebo
5 The Assessment of Osteoporosis Treatment in Post-menopausal Women Unknown status NCT03006003 Phase 4 Raloxifene;Alendronate
6 The Treatment of Osteoporosis Using a Combination of Teriparatide (Forteo) and Denosumab Unknown status NCT02130973 Phase 4 Standard Clinical Practice Regimen;Experimental Cyclic Regimen
7 The Efficacy of Denosumab to Reduce Osteoporosis After Spinal Cord Injury Unknown status NCT01983475 Phase 4 Denosumab;Placebo (identical Denosumab volume of normal saline)
8 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
9 Effects of Omega-3 Fatty Acids on Bone and Frailty Unknown status NCT00634686 Phase 4
10 Influence of Dermocorticoids on Bone Mineral Density in Patients With Bullous Pemphigoid Unknown status NCT03926377 Phase 4
11 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
12 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
13 A One-year Randomized Controlled Trial Evaluating the Impact of Pioglitazone Versus Linagliptin on Bone Turnover Markers Unknown status NCT02429232 Phase 4 Pioglitazone;Linagliptin
14 Pilot Study: Does Preventive Adjacent Level Cement Augmentation Positively Affect Reoperation Rates After Osteoporotic Vertebral Compression Fractures? Unknown status NCT02489825 Phase 4
15 Changes of Bone Metabolic Markers and Bone Mineral Density After Denosumab and/or Teriparatide Treatment in Japanese Osteoporotic Patients Unknown status NCT02156960 Phase 4 Denosumab treatment in osteoporotic patients;Teriparatide treatment in osteoporotic patients;Denosumab and teriparatide treatment in osteoporotic patients
16 A Randomized, Double-blind, Placebo-controlled Study Evaluating the Analgesic Effects of the Gastrolith, in Osteoporotic Patients Suffering From Recent Skeletal Pain Caused by Vertebral Fractures Unknown status NCT01482858 Phase 4
17 Comparisons of the Effect of Inactive and Active Vitamin D on Serum Sclerostin/dickkopf1 Levels Unknown status NCT01765010 Phase 4 Calcitriol;Alfacalcidol;Cholecalciferol;Placebo
18 A Multi Centre, Randomised, Open Label, Cross-over Study to Evaluate the Percentage of False Negative Osteoporosis Diagnosis's Using the Standard Case-finding Procedure as Described by the Dutch Institute for Healthcare (CBO) and to Determine the Preference of Adult Osteoporosis Patients Between Once Monthly Dosing of Ibandronate (150 mg) and Once Weekly Dosing of Alendronate (70 mg) Completed NCT00327990 Phase 4 Ibandronate;Alendronate
19 A Prospective Open-Label, Multicenter Study to Evaluate the Change in Bone Turnover Markers After Once Monthly Oral Ibandronate Therapy in Treatment Naive Postmenopausal Osteoporosis Patients Completed NCT02598934 Phase 4 Ibandronate
20 Randomized, Open-label, Multi-center Study to Investigate Patient Preference on Dosing in Women With Postmenopausal Osteoporosis Treated With Once Monthly Ibandronate and Once Weekly Risedronate. A Six Month, Two-sequence and Two-period Crossover Study. Completed NCT00377234 Phase 4 Risedronate;ibandronate [Bonviva/Boniva]
21 The Effects of Teriparatide on Bone Microarchitecture as Determined by High Resolution Magnetic Resonance Imaging and Digital Topological Analysis Completed NCT00557310 Phase 4 teriparatide
22 A Randomized, Open-label Study to Investigate the Impact of Bone Marker Feedback on Persistence to Once Monthly Oral Bonviva (Ibandronate) Treatment for Post-menopausal Osteoporosis. Completed NCT00545480 Phase 4 ibandronate [Bonviva/Boniva]
23 A Prospective, Open-Label, Multi-Center, Two-Part Study to Investigate Patient Satisfaction With Monthly Dosed Ibandronate Therapy in Women With Post-Menopausal Osteoporosis or Osteopenia Transitioned From Once-Weekly Alendronate or Risendronate Completed NCT02604836 Phase 4 Ibandronate
24 An Open-Label, Multi-Center Study to Determine Level of Adherence to Monthly Oral or Every Three Month Intravenous Ibandronate Treatment in Post-Menopausal Women With Osteoporosis or Osteopenia, Who Are GI Intolerant of Daily or Weekly Alendronate or Risendronate Completed NCT02598453 Phase 4 Ibandronate
25 A Randomized, Open-Label, Muti-Center Study to Investigate Patient Preference on Dosing in Women With Postmenopausal Osteoporosis Treated With Once-Monthly Ibandronate and Once-Weekly Alendronate. A Six Month, Two-Sequence, and Two-Period Crossover Study Completed NCT02598440 Phase 4 Alendronate;Ibandronate
26 A Multicenter, Prospective, Randomized, 2-Way Crossover, Open-Label Phase IV Study in Postmenopausal Women With Osteoporosis Examining Subject Satisfaction and Compliance When Actonel(Rosedronate) is Administered 35mg Once a Week or 5mg Completed NCT00549965 Phase 4 Risedronate Sodium
27 A Multicenter, Prospective, Randomized, 2-Way Crossover, Open-Label Study pn Postmenopausal Women With Osteoporosis Examining Subject Satisfaction and Compliance When Risedronate Sodium (Actonel) in Administered 35mg Once a Week or 5mg Once Daily Completed NCT00453492 Phase 4 risedronate sodium
28 A One-Year, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Determine the Efficacy and Safety of 35-mg Risedronate Administered Once a Week in the Prevention of Osteoporosis in Postmenopausal Women Completed NCT00402441 Phase 4 Risedronate (HMR4003)
29 Investigation of the Effects of Bisphosphonate on the Gingival Crevicular Fluid Levels of Sclerostin and the DKK-1 in Individuals With Postmenopausal Osteoporosis With Periodontal Changes Completed NCT04149405 Phase 4 Bisphosphonate therapy
30 A Randomized Open-Label Study to Investigate the Impact of Bone Marker Feedback at 3 Months on Adherence to Monthly Oral Bonviva in Women With Post-Menopausal Osteoporosis Supported by a Patient Relationship Program Completed NCT00545363 Phase 4 Ibandronate
31 Multicenter and Prospective Study to Determine the Satisfaction With Actonel (Risedronate Sodium) 35mg Once a Week Using Biochemical Markers of Bone as a Control, in Postmenopausal Women With Osteoporosis Completed NCT00632216 Phase 4 Risedronate Sodium
32 ZEST II for Osteoporotic Fracture Prevention Completed NCT02589600 Phase 4 Zoledronic acid
33 A Prospective, Randomized, Open-label, Active-controlled Study to Evaluate the Efficacy and Safety of Fosamax Plus D in Postmenopausal Osteoporotic Women Completed NCT00729651 Phase 4 alendronate sodium (+) cholecalciferol;Comparator: Alendronate sodium (Fosamax)
34 Multi-centre, Randomized, Open Label Trial to Evaluate the Effects of Switching to Bazedoxifene in Comparison With Switching to Calcium and Vitamin D in Postmenopausal Women Previously Treated With Bisphosphonates Completed NCT02090400 Phase 4 Bazedoxifene;Calcium/Vit D
35 Open Label, Parallel Group, Multicenter Study of Two Intravenous (IV) Ibandronate Dose Regimens (2 mg Every 2 Months and 3 mg Every 3 Months) in Women With Postmenopausal Osteoporosis Who Completed Trial BM16550 Completed NCT00551174 Phase 4 ibandronate [Bonviva/Boniva]
36 Bone Marker Changes In One Month Treatment With TERIPARATIDE (LY333334) Injections (rDNA Origin) in Men and Postmenopausal Women With Severe Osteoporosis Completed NCT00532545 Phase 4 Teriparatide
37 A Randomized, Open Label Study Evaluating the Effect on Renal Function of Intravenous Bonviva Given by Injection or Infusion, Compared With Oral Alendronate, in Postmenopausal Women With Osteoporosis at High Risk for Renal Disease. Completed NCT00503113 Phase 4 ibandronate [Bonviva/Boniva];Alendronate
38 Pearlium®/Effecti-Cal®, a Novel Formulation of Calcium, Vitamin D and Minerals for Prevention of Postmenopausal Bone Loss Completed NCT04609189 Phase 4 Pearlium/EffectiCal;Calcium carbonate/vitamin D3
39 A Study of Prevention and Treatment of Postmenopausal Osteoporosis in Chinese Women Completed NCT00860964 Phase 4 Placebo;estradiol valerate
40 Teriparatide and Risedronate in the Treatment of Patients With Severe Postmenopausal Osteoporosis: Comparative Effects on Vertebral Fractures Completed NCT01709110 Phase 4 Teriparatide;Risedronate;Placebo;Calcium;Vitamin D
41 A Randomised, Open Label Study to Investigate the Impact of Bone Marker Feedback at 2 Months on Adherence to Monthly Oral Bonviva (Ibandronate) in Women With Post-menopausal Osteoporosis. Completed NCT00545909 Phase 4 ibandronate [Bonviva/Boniva]
42 Impact of NTx Point of Care (POC) Device on Patient Satisfication With Actonel 35mg Once a Seek Treatment a Multicenter Prospective Open Label Randomized Controlled Community Practice-based Study Completed NCT00549068 Phase 4 Risedronate Sodium (Actonel)
43 An Open-label, Clinical Observation Extension Study to Assess Continuing Safety and Adherence in Patients With Postmenopausal Osteoporosis Receiving Monthly Oral Bonviva Completed NCT00545090 Phase 4 ibandronate [Bonviva/Boniva]
44 A Randomized, Double-blind Study to Evaluate the Effect of Once Monthly Bonviva on Lumbar Bone Mineral Density in the Prevention of Glucocorticoid-induced Osteoporosis in Post-menopausal Women Completed NCT00545051 Phase 4 Placebo;ibandronate
45 Long-Term Effects of Raloxifene Treatment on Bone Quality: A Cross-Sectional Study of Postmenopausal Women With Osteoporosis Previously Enrolled in the Continuing Outcomes Relevant to Evista Study Completed NCT00532428 Phase 4 Raloxifene;Placebo
46 A Study of Carotid Artery Intima-Media Thickness Following Exposure to Raloxifene HCl or Placebo Completed NCT00532246 Phase 4 raloxifene;Placebo
47 An Open-label, Multi-centre, Randomized Study to Investigate Patient Preference on Dosing in the Once-monthly Ibandronate and the Once-weekly Risedronate in Korean Women With Postmenopausal Osteoporosis. A Six-month, Two-sequence, and Two Period Crossover Study Completed NCT00405392 Phase 4 Ibandronate (SB743830HD)
48 Double-blind, Partially Randomized, Parallel Group, Multicenter Study to Assess the Efficacy and Safety of 100 mg and 150 mg Monthly Oral Ibandronate in Women With Postmenopausal Osteoporosis Having Completed the Phase III Oral Ibandronate Trial BM16549 Completed NCT00081653 Phase 4 ibandronate [Bonviva/Boniva]
49 Sequential Use of Teriparatide and Raloxifene HCl in the Treatment of Postmenopausal Women With Osteoporosis Completed NCT00035256 Phase 4 teriparatide;raloxifene HCl;placebo
50 Skeletal Histomorphometry in Patients on Teriparatide or Zoledronic Acid Therapy Completed NCT00927186 Phase 4 Teriparatide;Zoledronic Acid

Search NIH Clinical Center for Osteoporosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alendronate
Calcitonin
calcium acetate
Calcium Carbonate
CALCIUM CARBONATE 1 g in 1 g ORAL POWDER
Calcium Citrate
calcium glubionate
Calcium gluceptate
Calcium Gluconate
CALCIUM GLUCONATE PWDR
Calcium Glycerophosphate
calcium lactate
CALCIUM LEVULINATE
Calcium Pantothenate
calcium phosphate
Cholecalciferol
Fluorides
Medium chain triglycerides
MEDRONATE DISODIUM
pamidronate
Pamidronate Disodium
Raloxifene
Raloxifene Hydrochloride
Risedronate
risedronate sodium
salmon calcitonin
SODIUM FLUORIDE PWDR
Teriparatide

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteoporosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Osteoporosis:
PREOB, autologous osteoblasts for bone disorders

Cochrane evidence based reviews: osteoporosis

Genetic Tests for Osteoporosis

Genetic tests related to Osteoporosis:

# Genetic test Affiliating Genes
1 Postmenopausal Osteoporosis 28
2 Osteoporosis 28 CALCR COL1A1 COL1A2 LRP5 PDLIM4

Anatomical Context for Osteoporosis

Organs/tissues related to Osteoporosis:

MalaCards : Bone, Bone Marrow, Spinal Cord, Breast, Prostate, Skin, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Osteoporosis:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Mononucleated Osteoclasts Affected by disease
2 Bone Bone Marrow Multinucleated Osteoclasts Affected by disease
3 Blood Hematopoietic Bone Marrow Osteoclast Precursor Cells Affected by disease

Publications for Osteoporosis

Articles related to Osteoporosis:

(show top 50) (show all 32807)
# Title Authors PMID Year
1
Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis. 53 62 57
19429913 2009
2
Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. 53 62 57
10942433 2000
3
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. 53 62 57
8841196 1996
4
Genetics of osteoporosis. 62 57
16762578 2006
5
Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone. 53 57
15744038 2005
6
An investigation of the predictors of bone mineral density and response to therapy with alendronate in osteoporotic men. 53 57
14671165 2003
7
Efficacy and safety of human parathyroid hormone-(1-84) in increasing bone mineral density in postmenopausal osteoporosis. 62 57
14602752 2003
8
Genetic control of susceptibility to osteoporosis. 62 57
12050200 2002
9
Additive effects of raloxifene and alendronate on bone density and biochemical markers of bone remodeling in postmenopausal women with osteoporosis. 62 57
11889149 2002
10
Alendronate treatment of established primary osteoporosis in men: results of a 2-year prospective study. 62 57
11701687 2001
11
Effect of combined risedronate and hormone replacement therapies on bone mineral density in postmenopausal women. 62 57
11344179 2001
12
The genetics of osteoporosis: 'complexities and difficulties'. 62 57
10782923 2000
13
The genetic trail of osteoporosis. 62 57
9535673 1998
14
Reduced femoral neck bone density in the daughters of women with hip fractures: the role of low peak bone density in the pathogenesis of osteoporosis. 62 57
8053404 1994
15
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. 62 5
2052622 1991
16
Reduced bone mass in daughters of women with osteoporosis. 62 57
2915666 1989
17
Teriparatide treatment in severe osteoporosis - a controlled 10-year follow-up study. 62 41
36424580 2022
18
The effects on type 2 diabetes mellitus mouse femoral bone achieved by anti-osteoporosis exercise interventions. 62 41
36465647 2022
19
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. 5
32973344 2021
20
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
21
Genetic analysis of adults heterozygous for ALPL mutations. 5
29236161 2018
22
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. 57
26367794 2015
23
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. 57
22504420 2012
24
Multiple genetic loci for bone mineral density and fractures. 57
18445777 2008
25
Integrin beta3 Leu33Pro polymorphism and risk of hip fracture: 25 years follow-up of 9233 adults from the general population. 57
17264806 2007
26
Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22. 57
16183656 2005
27
Regulation of bone mass, bone loss and osteoclast activity by cannabinoid receptors. 57
15908955 2005
28
The effect of calcium supplementation on bone density in premenarcheal females: a co-twin approach. 57
15472185 2004
29
Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk. 57
12915669 2003
30
Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women. 57
12908099 2003
31
Early changes in serum N-telopeptide and C-telopeptide cross-linked collagen type 1 predict long-term response to alendronate therapy in elderly women. 57
11061497 2000
32
Vitamin D supplementation in postmenopausal black women. 57
10566638 1999
33
Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. 57
9535665 1998
34
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. 5
8786074 1996
35
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. 5
1463018 1992
36
Estrogen status and heredity are major determinants of premenopausal bone mass. 57
1469098 1992
37
Genetic determinants of bone mass in adults. A twin study. 57
3624485 1987
38
A prospective analysis of concentration of 25-OHD between northern and southern district in Japan in year-round study. 41
36316947 2022
39
The GH/IGF1 axis and signaling pathways in the muscle and bone: mechanisms underlying age-related skeletal muscle wasting and osteoporosis. 53 62
20197302 2010
40
Bazedoxifene: a novel selective estrogen receptor modulator for postmenopausal osteoporosis. 53 62
20184423 2010
41
Osteocalcin gene polymorphisms influence concentration of serum osteocalcin and enhance fracture identification. 53 62
20200947 2010
42
The potential role of insulin-like growth factor 1, insulin-like growth factor binding protein 3 and bone mineral density in patients with chronic hepatitis C virus in Cairo, Egypt. 53 62
20189618 2010
43
Effect of glucocorticoid-, parathyroid- and thyroid hormones excess on human iliac crest bone matrix insulin-like growth factor (IGF)-I in patients with osteoporosis. 53 62
19998242 2010
44
Biochemical mechanism of gallium on prevention of fatal cage-layer osteoporosis. 53 62
19639269 2010
45
Odanacatib, a cathepsin-K inhibitor for osteoporosis: a two-year study in postmenopausal women with low bone density. 53 62
19874198 2010
46
New treatment targets in osteoporosis. 53 62
20381400 2010
47
Zoledronic acid for treatment of osteopenia and osteoporosis in women with primary breast cancer undergoing adjuvant aromatase inhibitor therapy. 53 62
20079640 2010
48
Molecular biology of bone remodeling: implications for new therapeutic targets for osteoporosis. 53 62
20116187 2010
49
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. 53 62
19673927 2010
50
The association of serum osteoprotegerin and osteoporosis in postmenopausal hemodialysis patients: a pilot study. 53 62
20210559 2010

Variations for Osteoporosis

ClinVar genetic disease variations for Osteoporosis:

5 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A2 NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser) SNV Pathogenic
17258 rs72658152 GRCh37: 7:94047820-94047820
GRCh38: 7:94418508-94418508
2 COL1A1 NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic
287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
3 COL1A1 NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic
425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
4 PLS3 NM_005032.7(PLS3):c.1512-1G>T SNV Pathogenic
1172590 GRCh37: X:114881869-114881869
GRCh38: X:115647549-115647549
5 COL1A2 NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser) SNV Pathogenic
1694467 GRCh37: 7:94042422-94042422
GRCh38: 7:94413110-94413110
6 COL1A1 NM_000088.4(COL1A1):c.1821+1G>A SNV Pathogenic
425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
7 COL1A1 NM_000088.4(COL1A1):c.1299+1G>A SNV Pathogenic
425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
8 COL1A1 NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic
447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
9 COL1A1 NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic
17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
10 ALPL NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) SNV Pathogenic
974971 rs1209147330 GRCh37: 1:21887151-21887151
GRCh38: 1:21560658-21560658
11 WNT1 NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter) SNV Pathogenic
1708283 GRCh37: 12:49374313-49374313
GRCh38: 12:48980530-48980530
12 COL1A2 NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) SNV Pathogenic
456848 rs66612022 GRCh37: 7:94039080-94039080
GRCh38: 7:94409768-94409768
13 COL1A2 NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) SNV Pathogenic
579070 rs67543427 GRCh37: 7:94039769-94039769
GRCh38: 7:94410457-94410457
14 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV Pathogenic
216908 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
15 COL1A1 NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic
17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
16 IFITM5 NM_001025295.3(IFITM5):c.-14C>T SNV Pathogenic
37143 rs587776916 GRCh37: 11:299504-299504
GRCh38: 11:299504-299504
17 COL1A1 NM_000088.4(COL1A1):c.579del (p.Gly194fs) DEL Pathogenic
35925 rs72667023 GRCh37: 17:48275531-48275531
GRCh38: 17:50198170-50198170
18 COL1A1 NM_000088.4(COL1A1):c.1614+1G>A SNV Pathogenic
1074312 GRCh37: 17:48271709-48271709
GRCh38: 17:50194348-50194348
19 COL1A2 NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) SNV Pathogenic
265387 rs72656370 GRCh37: 7:94035598-94035598
GRCh38: 7:94406286-94406286
20 LRP5 NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) SNV Likely Pathogenic
1179140 GRCh37: 11:68181208-68181208
GRCh38: 11:68413740-68413740
21 SRC NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) SNV Likely Pathogenic
225689 rs879255268 GRCh37: 20:36031750-36031750
GRCh38: 20:37403347-37403347
22 LRP5 NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr) SNV Likely Pathogenic
623483 rs768615287 GRCh37: 11:68197163-68197163
GRCh38: 11:68429695-68429695
23 COL1A1 NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely Pathogenic
450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
24 COL1A2 NM_000089.4(COL1A2):c.432+2T>A SNV Likely Pathogenic
1675161 GRCh37: 7:94034206-94034206
GRCh38: 7:94404894-94404894
25 OPA1-AS1, OPA1 NM_130837.3(OPA1):c.679-4G>T SNV Uncertain Significance
523555 rs757018661 GRCh37: 3:193343877-193343877
GRCh38: 3:193626088-193626088
26 SERPINF1 NM_002615.7(SERPINF1):c.336G>T (p.Leu112Phe) SNV Uncertain Significance
1342995 GRCh37: 17:1674375-1674375
GRCh38: 17:1771081-1771081
27 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain Significance
520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
28 LRP5 NM_002335.4(LRP5):c.4000+9C>T SNV Uncertain Significance
36481 rs148685646 GRCh37: 11:68201315-68201315
GRCh38: 11:68433847-68433847
29 RYR1 NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg) SNV Uncertain Significance
373917 rs1057518768 GRCh37: 19:38958273-38958273
GRCh38: 19:38467633-38467633
30 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain Significance
183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
31 COL1A1 NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) SNV Uncertain Significance
324103 rs575285203 GRCh37: 17:48265929-48265929
GRCh38: 17:50188568-50188568
32 COL1A1 NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) SNV Uncertain Significance
388459 rs751299130 GRCh37: 17:48272168-48272168
GRCh38: 17:50194807-50194807
33 COL1A1 NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) SNV Uncertain Significance
578894 rs754984293 GRCh37: 17:48263689-48263689
GRCh38: 17:50186328-50186328
34 FBN1 NM_000138.5(FBN1):c.6170G>A (p.Arg2057Gln) SNV Uncertain Significance
1691560 GRCh37: 15:48730108-48730108
GRCh38: 15:48437911-48437911
35 SERPINF1 NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) SNV Uncertain Significance
218613 rs140512665 GRCh37: 17:1673303-1673303
GRCh38: 17:1770009-1770009
36 COL1A2 NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) SNV Uncertain Significance
526891 rs200278401 GRCh37: 7:94024395-94024395
GRCh38: 7:94395083-94395083
37 COL1A2 NM_000089.4(COL1A2):c.286A>G (p.Met96Val) SNV Uncertain Significance
423747 rs763509640 GRCh37: 7:94033874-94033874
GRCh38: 7:94404562-94404562
38 COL1A2 NM_000089.4(COL1A2):c.671G>A (p.Arg224His) SNV Uncertain Significance
526896 rs771139732 GRCh37: 7:94037526-94037526
GRCh38: 7:94408214-94408214
39 COL1A2 NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) SNV Uncertain Significance
281098 rs377278762 GRCh37: 7:94055784-94055784
GRCh38: 7:94426472-94426472
40 COL1A2 NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) SNV Uncertain Significance
373178 rs144797861 GRCh37: 7:94058641-94058641
GRCh38: 7:94429329-94429329
41 COL1A1 NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) SNV Uncertain Significance
450185 rs146035171 GRCh37: 17:48263191-48263191
GRCh38: 17:50185830-50185830
42 COL1A1 NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) SNV Uncertain Significance
324102 rs767525556 GRCh37: 17:48265485-48265485
GRCh38: 17:50188124-50188124
43 COL1A2 NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) SNV Uncertain Significance
17250 rs72658163 GRCh37: 7:94049588-94049588
GRCh38: 7:94420276-94420276
44 LRP5 NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) SNV Likely Benign
36482 rs145406397 GRCh37: 11:68216325-68216325
GRCh38: 11:68448857-68448857

UniProtKB/Swiss-Prot genetic disease variations for Osteoporosis:

73
# Symbol AA change Variation ID SNP ID
1 WNT1 p.Cys218Gly VAR_069629 rs397514702
2 WNT1 p.Arg235Trp VAR_069630 rs387907359

Copy number variations for Osteoporosis from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 188155 4 59500000 76300000 Deletion UGT2B17 Osteoporosis
2 188566 4 66300000 70400000 Presence of gene UGT2B17 Osteoporosis
3 188584 4 66600000 70500000 Copy number TMPRSS11E Osteoporosis
4 188585 4 66600000 70500000 Copy number TMPRSS11E Osteoporosis
5 188586 4 66600000 70500000 Copy number UGT2B15 Osteoporosis
6 188588 4 66600000 70500000 Copy number YTHDC1 Osteoporosis
7 188587 4 66600000 70500000 Copy number UGT2B17 Osteoporosis

Expression for Osteoporosis

LifeMap Discovery
Genes differentially expressed in tissues of Osteoporosis patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SCIMP SLP adaptor and CSK interacting membrane protein Blood + 4.32 0.000
2 LINC00189 long intergenic non-protein coding RNA 189 Blood + 3.93 0.000
3 ALAS2 5'-aminolevulinate synthase 2 Blood - 3.81 0.010
4 BTNL3 butyrophilin like 3 Blood - 3.78 0.042
5 LILRA5 leukocyte immunoglobulin like receptor A5 Blood + 3.25 0.017
6 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Blood + 3.17 0.006
7 SLC7A10 solute carrier family 7 member 10 Blood + 3.05 0.002
Search GEO for disease gene expression data for Osteoporosis.

Pathways for Osteoporosis

GO Terms for Osteoporosis

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

# Name GO ID Score Top Affiliating Genes
1 collagen type I trimer GO:0005584 8.92 COL1A2 COL1A1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 10.07 CALCR BGLAP ALPL
2 response to mechanical stimulus GO:0009612 10.05 TNFRSF11A COL1A1 BGLAP
3 response to estrogen GO:0043627 10.04 TNFRSF11B ESR1 BGLAP
4 skeletal system development GO:0001501 10.02 TNFRSF11B COL1A2 COL1A1 BGLAP ALPL
5 monocyte chemotaxis GO:0002548 10.01 TNFSF11 TNFRSF11A CALCA
6 response to insulin GO:0032868 10.01 TNFRSF11A COL1A1 BGLAP ALPL
7 osteoclast differentiation GO:0030316 9.92 TNFSF11 TNFRSF11A CALCR
8 cellular response to zinc ion starvation GO:0034224 9.88 TNFRSF11A BGLAP
9 response to organic cyclic compound GO:0014070 9.88 TNFRSF11A COL1A1 BGLAP ALPL
10 tooth eruption GO:0044691 9.86 TNFSF11 COL1A1
11 bone mineralization GO:0030282 9.86 ALPL BGLAP COL1A2 IFITM5
12 mammary gland alveolus development GO:0060749 9.85 TNFSF11 TNFRSF11A ESR1
13 positive regulation of DNA-binding transcription factor activity GO:0051091 9.85 WNT1 TNFSF11 TNFRSF11A LRP5 ESR1
14 TNFSF11-mediated signaling pathway GO:0071847 9.81 TNFSF11 TNFRSF11A
15 response to macrophage colony-stimulating factor GO:0036005 9.8 BGLAP ALPL
16 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.76 TNFRSF11A TNFSF11
17 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.73 TNFRSF11A TNFSF11
18 amylin receptor signaling pathway GO:0097647 9.72 CALCA CALCR
19 bone development GO:0060348 9.56 WNT1 TNFSF11 PLS3 LRP5 BGLAP
20 ossification GO:0001503 9.32 TNFSF11 TNFRSF11A COL1A1 CALCR CALCA BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.92 COL1A2 COL1A1

Sources for Osteoporosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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