MCID: BNM029
MIFTS: 47

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 57 6 40
Osteoporosis 57 73
Metaphyseal Fracture, Susceptibility to 57
Compression Fracture, Susceptibility to 57
Osteoporosis, Susceptibility to 57
Fractures, Compression 73
Metaphyseal Fracture 57
Compression Fracture 57
Bmnd15 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
bone mineral density quantitative trait locus 15:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613418
MedGen 42 C3150680
SNOMED-CT via HPO 69 263681008 258211005 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 Formation of HIV-1 elongation complex containing HIV-1 Tat and Regulation of TP53 Activity. Affiliated tissues include bone, liver and lung, 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 544)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 33.8 CALCR MIR2861 PDLIM4
2 osteoporosis, juvenile 12.7
3 osteoporosis-pseudoglioma syndrome 12.7
4 glucocorticoid-induced osteoporosis 12.4
5 juvenile primary osteoporosis 12.4
6 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.3
7 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.3
8 osteoporosis and oculocutaneous hypopigmentation syndrome 12.2
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 acroosteolysis dominant type 11.8
19 bone mineral density quantitative trait locus 8 11.7
20 bone mineral density quantitative trait locus 16 11.7
21 premature ovarian failure 1 11.5
22 werner syndrome 11.4
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 11.2
28 spondyloepimetaphyseal dysplasia, shohat type 11.2
29 bone fracture 11.2
30 anorexia nervosa 11.2
31 cerebrotendinous xanthomatosis 11.2
32 severe congenital neutropenia 11.2
33 osteopetrosis 11.2
34 graves' disease 11.1
35 cleft palate, isolated 11.1
36 acth-secreting pituitary adenoma 11.1
37 homocystinuria 11.1
38 bone mineral density quantitative trait locus 12 11.1
39 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
40 multicentric osteolysis, nodulosis, and arthropathy 11.1
41 winchester syndrome 11.1
42 aromatase deficiency 11.1
43 premature aging syndrome, okamoto type 11.0
44 pituitary adenoma 4, acth-secreting 11.0
45 dyskeratosis congenita, autosomal recessive 1 11.0
46 hyaline fibromatosis syndrome 11.0
47 prader-willi habitus, osteopenia, and camptodactyly 11.0
48 osteogenesis imperfecta, type xii 11.0
49 dyskeratosis congenita, autosomal dominant 2 11.0
50 nestor-guillermo progeria syndrome 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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoporosis
compression fractures (in homozygotes)
metaphyseal fractures (in homozygotes)


Clinical features from OMIM:

613418

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

32
# Description HPO Frequency HPO Source Accession
1 osteoporosis 32 HP:0000939

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


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

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 73 / NDF-RT 51 :


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:

41
Bone, Liver, Lung, Bone Marrow, Brain, Kidney, Heart

Publications for Bone Mineral Density Quantitative Trait Locus 15

Articles related to Bone Mineral Density Quantitative Trait Locus 15:

(show top 50) (show all 946)
# Title Authors Year
1
Evolving Role of MR Imaging and PET in Assessing Osteoporosis. ( 30420220 )
2019
2
Reduced TIPE2 expression is inversely associated with proinflammatory cytokines and positively correlated with bone mineral density in patients with osteoporosis. ( 30496728 )
2019
3
Low bone mineral density is associated with an elevated risk of developing increased arterial stiffness: A 10-year follow-up of Japanese women from the Japanese Population-based Osteoporosis (JPOS) cohort study. ( 30502749 )
2019
4
Retraction: Paper "Combined Treatment with Vitamin K₂ and Bisphosphonate in Postmenopausal Women with Osteoporosis" by Iwamoto J, et al. [Yonsei Med J 2003;44(5):751-756]. ( 30554498 )
2019
5
Retraction: Paper "Comparison of Effect of Treatment with Etidronate and Alendronate on Lumbar Bone Mineral Density in Elderly Women with Osteoporosis" by Iwamoto J, et al. [Yonsei Med J 2005;46(6):750-758]. ( 30554500 )
2019
6
Structural elucidation and anti-osteoporosis activities of polysaccharides obtained from Curculigo orchioides. ( 30318216 )
2019
7
Correction: Repeated superovulation increases the risk of osteoporosis and cardiovascular diseases by accelerating ovarian aging in mice. ( 30300138 )
2018
8
PGC-1α Controls Skeletal Stem Cell Fate and Bone-Fat Balance in Osteoporosis and Skeletal Aging by Inducing TAZ. ( 30244868 )
2018
9
Ovarian Aging and Osteoporosis. ( 30232761 )
2018
10
Prevalence and Fracture Risk of Osteoporosis in Patients with Rheumatoid Arthritis: A Multicenter Comparative Study of the FRAX and WHO Criteria. ( 30513848 )
2018
11
Osteoporosis Self-Assessment Tool As a Screening Tool for Predicting Osteoporosis in Elderly Chinese Patients With Established Rheumatoid Arthritis. ( 30205984 )
2018
12
Vitamin D and bisphosphonates therapies for osteoporosis are associated with different risks of atrial fibrillation in women: A nationwide population-based analysis. ( 30412111 )
2018
13
Side effects of drugs for osteoporosis and metastatic bone disease. ( 30192026 )
2018
14
Evaluation of osteopenia and osteoporosis in younger breast cancer survivors compared with cancer-free women: a prospective cohort study. ( 30424783 )
2018
15
Association Between Cataract and Risks of Osteoporosis and Fracture: A Nationwide Cohort Study. ( 30281143 )
2018
16
Osteoporosis in primary biliary cholangitis. ( 30131657 )
2018
17
Osteoporosis as an initial manifestation in a patient with Crohn's disease: A case report. ( 29581748 )
2018
18
Re-evaluating osteoporosis and fracture risk in Crohn's disease patients in the era of TNF-alpha inhibitors. ( 29235392 )
2018
19
Osteoporosis Is Associated with Deteriorating Clinical Status in Adults with Cystic Fibrosis. ( 29780417 )
2018
20
Cognition and Vitamin D in Older African-American Women- Physical performance and Osteoporosis prevention with vitamin D in older African Americans Trial and Dementia. ( 30359476 )
2018
21
Dental Caries and Osteoporosis. ( 30048347 )
2018
22
Atopic dermatitis is associated with osteoporosis and osteopenia in older adults. ( 29800580 )
2018
23
Osteoporosis and vertebral fracture are associated with deterioration of activities of daily living and quality of life in patients with type 2 diabetes mellitus. ( 30191456 )
2018
24
Osteoporosis and dry eye syndrome: A previously unappreciated association that may alert active prevention of fall. ( 30395639 )
2018
25
Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An evidence-based review. ( 30118182 )
2018
26
Necrotizing fasciitis as a complication of osteonecrosis of the jaw related to oral bisphosphonate application in a patient with osteoporosis: a case report. ( 30288621 )
2018
27
Novel insights into the relationship between nonalcoholic fatty liver disease and osteoporosis. ( 30323574 )
2018
28
Increased risk of osteoporosis in patients with nonalcoholic fatty liver disease: A population-based retrospective cohort study. ( 30334985 )
2018
29
The Combined Effect of Nonalcoholic Fatty Liver Disease and Metabolic Syndrome on Osteoporosis in Postmenopausal Females in Eastern China. ( 30151008 )
2018
30
Osteoporosis development and vertebral fractures after abdominal irradiation in patients with gastric cancer. ( 30309324 )
2018
31
Multiple vertebral fractures associated with glucocorticoid-induced osteoporosis treated with teriparatide followed by kyphosis correction fusion: a case report. ( 29476202 )
2018
32
The Efficacy of Minodronate in the Treatment of Glucocorticoid-induced Osteoporosis. ( 29607978 )
2018
33
The osteoblast: Linking glucocorticoid-induced osteoporosis and hyperglycaemia? A post-hoc analysis of a randomised clinical trial. ( 29729427 )
2018
34
GAG and collagen II attenuate glucocorticoid-induced osteoporosis by regulating NF-κB and MAPK signaling. ( 30018717 )
2018
35
Denosumab in the treatment of glucocorticoid-induced osteoporosis. ( 30019224 )
2018
36
Morin protects glucocorticoid-induced osteoporosis through regulating the mitogen-activated protein kinase signaling pathway. ( 30043216 )
2018
37
Denosumab is effective toward glucocorticoid-induced osteoporosis patients complicated with rheumatic diseases regardless of prior anti-osteoporotic drugs. ( 30187273 )
2018
38
Luteolin attenuates glucocorticoid-induced osteoporosis by regulating ERK/Lrp-5/GSK-3β signaling pathway in vivo and in vitro. ( 30192012 )
2018
39
Ptychographic X-ray CT characterization of the osteocyte lacuno-canalicular network in a male rat's glucocorticoid induced osteoporosis model. ( 30246062 )
2018
40
Combined treatment with cinnamaldehyde and PTH enhances the therapeutic effect on glucocorticoid-induced osteoporosis through inhibiting osteoclastogenesis and promoting osteoblastogenesis. ( 30309646 )
2018
41
Effects of alendronate for treatment of glucocorticoid-induced osteoporosis: A meta-analysis of randomized controlled trials. ( 30334952 )
2018
42
Technetium-99 Conjugated with Methylene Diphosphonate Ameliorates Glucocorticoid Induced Osteoporosis by Inhibiting Osteoclastogenesis. ( 30406140 )
2018
43
Osteoblast autophagy in glucocorticoid-induced osteoporosis. ( 30417506 )
2018
44
Epidemiology of arthritis, chronic back pain, gout, osteoporosis, spondyloarthropathies and rheumatoid arthritis among 1.5 million patients in Australian general practice: NPS MedicineWise MedicineInsight dataset. ( 29347932 )
2018
45
Gout as a risk factor for osteoporosis: response to comments by Kostev. ( 29637220 )
2018
46
Association between gout and osteoporosis risk in the United Kingdom. ( 29637221 )
2018
47
Herpes zoster and the risks of osteoporosis and fracture: a nationwide cohort study. ( 30460416 )
2018
48
Tetrahydroxy stilbene glucoside protected against diabetes-induced osteoporosis in mice with streptozotocin-induced hyperglycemia. ( 30456807 )
2018
49
Denosumab-induced Normocalcemic Hyperparathyroidism in a Woman with Postmenopausal Osteoporosis and Normal Renal Function. ( 29879891 )
2018
50
Comparative Effect of rhPTH(1-84) on Bone Mineral Density and Trabecular Bone Score in Hypoparathyroidism and Postmenopausal Osteoporosis. ( 30088838 )
2018

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

Pathways related to Bone Mineral Density Quantitative Trait Locus 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 CDK9 MIR2861 MIR3960
2
Show member pathways
12.32 CDK9 MIR2861 MIR3960
3
Show member pathways
11.74 CDK9 MIR2861 MIR3960
4
Show member pathways
11.53 CDK9 MIR2861 MIR3960
5
Show member pathways
10.79 CDK9 MIR2861 MIR3960
6 10.37 CDK9 MIR2861 MIR3960

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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