MCID: BNM029
MIFTS: 46

Bone Mineral Density Quantitative Trait Locus 15

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 15

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 15:

Name: Bone Mineral Density Quantitative Trait Locus 15 58 6 41
Osteoporosis 58 74
Metaphyseal Fracture, Susceptibility to 58
Compression Fracture, Susceptibility to 58
Osteoporosis, Susceptibility to 58
Fractures, Compression 74
Metaphyseal Fracture 58
Compression Fracture 58
Bmnd15 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant


HPO:

33
bone mineral density quantitative trait locus 15:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613418
MedGen 43 C3150680
SNOMED-CT via HPO 70 258211005 263681008 64859006

Summaries for Bone Mineral Density Quantitative Trait Locus 15

MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 15, also known as osteoporosis, is related to osteoporosis and osteoporosis, juvenile, and has symptoms including tremor, angina pectoris and back pain. An important gene associated with Bone Mineral Density Quantitative Trait Locus 15 is MIR2861 (MicroRNA 2861), and among its related pathways/superpathways are Regulation of TP53 Activity and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Affiliated tissues include bone, bone marrow and breast, and related phenotype is osteoporosis.

Description from OMIM: 613418

Related Diseases for Bone Mineral Density Quantitative Trait Locus 15

Diseases in the Bone Mineral Density Quantitative Trait Locus 18 family:

Bone Mineral Density Quantitative Trait Locus 4 Bone Mineral Density Quantitative Trait Locus 1
Bone Mineral Density Quantitative Trait Locus 2 Bone Mineral Density Quantitative Trait Locus 3
Bone Mineral Density Quantitative Trait Locus 5 Bone Mineral Density Quantitative Trait Locus 6
Bone Mineral Density Quantitative Trait Locus 7 Bone Mineral Density Quantitative Trait Locus 8
Bone Mineral Density Quantitative Trait Locus 9 Bone Mineral Density Quantitative Trait Locus 10
Bone Mineral Density Quantitative Trait Locus 11 Bone Mineral Density Quantitative Trait Locus 12
Bone Mineral Density Quantitative Trait Locus 13 Bone Mineral Density Quantitative Trait Locus 14
Bone Mineral Density Quantitative Trait Locus 15 Bone Mineral Density Quantitative Trait Locus 16
Bone Mineral Density Quantitative Trait Locus 17

Diseases related to Bone Mineral Density Quantitative Trait Locus 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 617)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 33.6 CALCR MIR2861 PDLIM4
2 osteoporosis, juvenile 12.8
3 osteoporosis-pseudoglioma syndrome 12.7
4 glucocorticoid-induced osteoporosis 12.5
5 juvenile primary osteoporosis 12.4
6 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.4
7 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.4
8 osteoporosis and oculocutaneous hypopigmentation syndrome 12.3
9 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 12.1
10 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 12.0
11 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.0
12 hajdu-cheney syndrome 12.0
13 cutis laxa osteoporosis 12.0
14 dominant hypophosphatemia with nephrolithiasis or osteoporosis 12.0
15 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 12.0
16 lrp5-related primary osteoporosis 12.0
17 bone mineral density quantitative trait locus 18 11.9
18 bone mineral density quantitative trait locus 8 11.8
19 acroosteolysis dominant type 11.8
20 bone mineral density quantitative trait locus 16 11.7
21 premature ovarian failure 1 11.5
22 werner syndrome 11.3
23 lysinuric protein intolerance 11.3
24 rickets 11.3
25 mental retardation, x-linked, syndromic, snyder-robinson type 11.3
26 syndromic x-linked intellectual disability snyder type 11.3
27 bone disease 11.3
28 spondyloepimetaphyseal dysplasia, shohat type 11.2
29 anorexia nervosa 11.2
30 bone fracture 11.2
31 cerebrotendinous xanthomatosis 11.2
32 severe congenital neutropenia 11.2
33 osteopetrosis 11.2
34 turner syndrome 11.2
35 graves' disease 11.2
36 cleft palate, isolated 11.2
37 cholangitis, primary sclerosing 11.2
38 acth-secreting pituitary adenoma 11.2
39 homocystinuria 11.2
40 bone mineral density quantitative trait locus 12 11.1
41 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
42 multicentric osteolysis, nodulosis, and arthropathy 11.1
43 winchester syndrome 11.1
44 aromatase deficiency 11.1
45 premature aging syndrome, okamoto type 11.0
46 pituitary adenoma 4, acth-secreting 11.0
47 dyskeratosis congenita, autosomal recessive 1 11.0
48 hyaline fibromatosis syndrome 11.0
49 prader-willi habitus, osteopenia, and camptodactyly 11.0
50 osteogenesis imperfecta, type xii 11.0

Graphical network of the top 20 diseases related to Bone Mineral Density Quantitative Trait Locus 15:



Diseases related to Bone Mineral Density Quantitative Trait Locus 15

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 15

Human phenotypes related to Bone Mineral Density Quantitative Trait Locus 15:

33
# Description HPO Frequency HPO Source Accession
1 osteoporosis 33 HP:0000939

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteoporosis
compression fractures (in homozygotes)
metaphyseal fractures (in homozygotes)

Clinical features from OMIM:

613418

UMLS symptoms related to Bone Mineral Density Quantitative Trait Locus 15:


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

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 15

Search Clinical Trials , NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 15

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Bone Mineral Density Quantitative Trait Locus 15

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 15

MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 15:

42
Bone, Bone Marrow, Breast, Testes, Kidney, Liver, Prostate

Publications for Bone Mineral Density Quantitative Trait Locus 15

Articles related to Bone Mineral Density Quantitative Trait Locus 15:

(show top 50) (show all 2552)
# Title Authors Year
1
Bmi1 Overexpression in Mesenchymal Stem Cells Exerts Anti-Aging and Anti-Osteoporosis Effects by Inactivating p16/p19 Signaling And Inhibiting Oxidative Stress. ( 30895687 )
2019
2
HYDROXYTYROSOL PROTECTS FROM AGING PROCESS VIA AMPK AND AUTOPHAGY; A REVIEW OF ITS EFFECTS ON CANCER, METABOLIC SYNDROME, OSTEOPOROSIS, IMMUNE-MEDIATED AND NEURODEGENERATIVE DISEASES. ( 30853597 )
2019
3
Opportunistic screening for osteoporosis using thoraco-abdomino-pelvic CT-scan assessing the vertebral density in rheumatoid arthritis patients. ( 30868182 )
2019
4
Osteoporosis, Childhood Bullying, Rheumatoid Arthritis, Diabetes Counseling, Inhaled Steroids. ( 30874411 )
2019
5
Evaluation of the implementation of guidelines on the treatment of osteoporosis in patients with rheumatoid arthritis. ( 30877214 )
2019
6
Correlation between systemic osteoporosis and local bone erosion with rheumatoid arthritis patients in Chinese population. ( 30847477 )
2019
7
Conventional synthetic disease-modifying antirheumatic drugs and bone mineral density in rheumatoid arthritis patients with osteoporosis: possible beneficial effect of leflunomide. ( 30767868 )
2019
8
Calcium and vitamin D supplementation with 3-year denosumab treatment is beneficial to enhance bone mineral density in postmenopausal patients with osteoporosis and rheumatoid arthritis. ( 30588001 )
2019
9
Association of Bone Metastasis With Early-Stage Breast Cancer in Women With and Without Precancer Osteoporosis According to Osteoporosis Therapy Status. ( 30848812 )
2019
10
Oxygen desaturation during the 6-min walk test as a risk for osteoporosis in non-cystic fibrosis bronchiectasis. ( 30717716 )
2019
11
Adults with cerebral palsy have higher prevalence of fracture compared to adults without cerebral palsy independent of osteoporosis and cardiometabolic diseases. ( 30730595 )
2019
12
Severe hypocalcemia following denosumab treatment in a patient with secondary osteoporosis associated with primary sclerosing cholangitis. ( 30713246 )
2019
13
Atopic dermatitis is associated with osteoporosis and osteopenia in older adults. ( 29800580 )
2019
14
Retrospective longitudinal study of osteoporosis in adults with recessive dystrophic epidermolysis bullosa. ( 30656009 )
2019
15
The prevention of glucocorticoid-induced osteoporosis in patients with immune thrombocytopenia receiving steroids: a British Society for Haematology Good Practice Paper. ( 30609018 )
2019
16
Cost-effectiveness of implementing guidelines for the treatment of glucocorticoid-induced osteoporosis in Japan. ( 30610244 )
2019
17
Metabolomics Profiling Reveals Rehmanniae Radix Preparata Extract Protects against Glucocorticoid-Induced Osteoporosis Mainly via Intervening Steroid Hormone Biosynthesis. ( 30641909 )
2019
18
Glucocorticoid-Induced Osteoporosis: New Insights into the Pathophysiology and Treatments. ( 30685820 )
2019
19
Metabolomics profiling provides valuable insights into the underlying mechanisms of Morinda officinalis on protecting glucocorticoid-induced osteoporosis. ( 30690247 )
2019
20
Osteoprotective Effect of Cimiracemate in Glucocorticoid-Induced Osteoporosis by Osteoprotegerin/Receptor Activator of Nuclear Factor κ B/Receptor Activator of Nuclear Factor Kappa-Β Ligand Signaling. ( 30695776 )
2019
21
Preventative effects of metformin on glucocorticoid-induced osteoporosis in rats. ( 30706148 )
2019
22
Glucocorticoid-induced osteoporosis preventive care in rheumatology patients. ( 30723883 )
2019
23
Glucocorticoid-induced osteoporosis: 2019 concise clinical review. ( 30805679 )
2019
24
Denosumab vs risedronate in glucocorticoid-induced osteoporosis: final results of a 24-month randomized, double-blind, double-dummy trial. ( 30816640 )
2019
25
Z-Guggulsterone attenuates glucocorticoid-induced osteoporosis through activation of Nrf2/HO-1 signaling. ( 30905781 )
2019
26
The association between hepatitis and osteoporosis: a nested case-control study using a national sample cohort. ( 30852676 )
2019
27
Antiviral therapy and the development of osteopenia/osteoporosis among Asians with chronic hepatitis B. ( 30776311 )
2019
28
Herpes zoster and the risks of osteoporosis and fracture: a nationwide cohort study. ( 30460416 )
2019
29
Tetrahydroxy stilbene glucoside protected against diabetes-induced osteoporosis in mice with streptozotocin-induced hyperglycemia. ( 30456807 )
2019
30
Predictors of nephrolithiasis, osteoporosis and mortality in primary hyperparathyroidism. ( 30916764 )
2019
31
Correlation of the severity of chronic kidney disease with serum inflammation, osteoporosis and vitamin D deficiency. ( 30651805 )
2019
32
Sirtuins and FoxOs in osteoporosis and osteoarthritis. ( 30738214 )
2019
33
Recommendations for the conduct of economic evaluations in osteoporosis: outcomes of an experts' consensus meeting organized by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and the US branch of the International Osteoporosis Foundation. ( 30382319 )
2019
34
Incidence of osteonecrosis of the jaw in Japanese osteoporosis patients taking minodronic acid. ( 30719580 )
2019
35
Osteoporosis therapy in patients with inflammatory rheumatic diseases and osteonecrosis of the jaw. ( 30796524 )
2019
36
Surgical Considerations in Managing Osteoporosis, Osteopenia, and Vitamin D Deficiency During Arthroscopic Rotator Cuff Repair. ( 30850081 )
2019
37
Surgical Considerations for Osteoporosis in Ankle Fracture Fixation. ( 30850082 )
2019
38
Surgical Considerations for Osteoporosis, Osteopenia, and Vitamin D Deficiency. ( 30850084 )
2019
39
Revised FRAX®-based intervention thresholds for the management of osteoporosis among postmenopausal women in Sri Lanka. ( 30850909 )
2019
40
Efficacy and safety of denosumab compared to bisphosphonates in improving bone strength in postmenopausal osteoporosis: a systematic review. ( 30854568 )
2019
41
Efficacy of Jintiange Capsules in the Treatment of Osteoporosis: A Network Meta-analysis. ( 30854796 )
2019
42
Correlation of rs749292 and rs700518 polymorphisms in the aromatase gene (CYP19A1) with osteoporosis in postmenopausal Polish women. ( 30855728 )
2019
43
Efficacy and safety of abaloparatide for the treatment of post-menopausal osteoporosis. ( 30856013 )
2019
44
New Insights Into Monogenic Causes of Osteoporosis. ( 30858824 )
2019
45
Evidence of patient beliefs, values, and preferences is not provided in osteoporosis clinical practice guidelines. ( 30859238 )
2019
46
Vitamin C reverses bone loss in an osteopenic rat model of osteoporosis. ( 30859904 )
2019
47
High-Intensity Resistance and Impact Training Improves Bone Mineral Density and Physical Function in Postmenopausal Women With Osteopenia and Osteoporosis: The LIFTMOR Randomized Controlled Trial. ( 30861219 )
2019
48
Drugs targeting SIRT1, a new generation of therapeutics for osteoporosis and other bone related disorders? ( 30862606 )
2019
49
A join point regression analysis of trends in mortality due to osteoporosis in Spain. ( 30862942 )
2019
50
Gut Hormones and Their Effect on Bone Metabolism. Potential Drug Therapies in Future Osteoporosis Treatment. ( 30863364 )
2019

Variations for Bone Mineral Density Quantitative Trait Locus 15

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIR2861 NR_036055.1(MIR2861): n.33C> G single nucleotide variant association rs794728003 GRCh37 Chromosome 9, 130548229: 130548229
2 MIR2861 NR_036055.1(MIR2861): n.33C> G single nucleotide variant association rs794728003 GRCh38 Chromosome 9, 127785950: 127785950
3 PDLIM4 RIL, -3333T-C single nucleotide variant risk factor
4 CALCR NM_001164737.1(CALCR): c.1442T> C (p.Leu481Pro) single nucleotide variant risk factor rs1801197 GRCh37 Chromosome 7, 93055753: 93055753
5 CALCR NM_001164737.1(CALCR): c.1442T> C (p.Leu481Pro) single nucleotide variant risk factor rs1801197 GRCh38 Chromosome 7, 93426441: 93426441

Expression for Bone Mineral Density Quantitative Trait Locus 15

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 15.

Pathways for Bone Mineral Density Quantitative Trait Locus 15

GO Terms for Bone Mineral Density Quantitative Trait Locus 15

Sources for Bone Mineral Density Quantitative Trait Locus 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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