MCID: BNM029
MIFTS: 39

Bone Mineral Density Quantitative Trait Locus 15

Categories: Genetic diseases, Bone 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 53
Osteoporosis 53 69
Metaphyseal Fracture, Susceptibility to 53
Compression Fracture, Susceptibility to 53
Osteoporosis, Susceptibility to 53
Fractures, Compression 69
Metaphyseal Fracture 53
Compression Fracture 53
Bmnd15 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive


HPO:

31
bone mineral density quantitative trait locus 15:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613418
MedGen 39 C3150680
SNOMED-CT via HPO 65 263681008 258211005 64859006
UMLS 69 C0521169

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 osteoporosis, equilibration disorder and tremor. An important gene associated with Bone Mineral Density Quantitative Trait Locus 15 is MIR2861 (MicroRNA 2861). Affiliated tissues include bone.

Description from OMIM: 613418

Related Diseases for Bone Mineral Density Quantitative Trait Locus 15

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 412)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 32.5 CALCR MIR2861 PDLIM4
2 osteoporosis, juvenile 12.6
3 osteoporosis-pseudoglioma syndrome 12.5
4 juvenile primary osteoporosis 12.3
5 glucocorticoid-induced osteoporosis 12.3
6 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.2
7 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.2
8 osteoporosis and oculocutaneous hypopigmentation syndrome 12.1
9 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 11.9
10 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 11.9
11 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.9
12 cutis laxa osteoporosis 11.8
13 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.8
14 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 11.8
15 lrp5-related primary osteoporosis 11.8
16 hajdu-cheney syndrome 11.8
17 bone mineral density quantitative trait locus 8 11.7
18 bone mineral density quantitative trait locus 18 11.7
19 acroosteolysis dominant type 11.6
20 bone mineral density quantitative trait locus 16 11.5
21 werner syndrome 11.2
22 lysinuric protein intolerance 11.2
23 mental retardation, x-linked, syndromic, snyder-robinson type 11.1
24 syndromic x-linked intellectual disability snyder type 11.1
25 rickets 11.1
26 acth-secreting pituitary adenoma 11.1
27 bone fracture 11.1
28 cerebrotendinous xanthomatosis 11.0
29 bulimia nervosa 2 11.0
30 severe congenital neutropenia 11.0
31 osteopetrosis 11.0
32 cleft palate, isolated 11.0
33 homocystinuria 11.0
34 bone mineral density quantitative trait locus 12 11.0
35 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
36 multicentric osteolysis, nodulosis, and arthropathy 10.9
37 winchester syndrome 10.9
38 dyskeratosis congenita, autosomal recessive 1 10.8
39 hyaline fibromatosis syndrome 10.8
40 aromatase deficiency 10.8
41 osteogenesis imperfecta, type xii 10.8
42 dyskeratosis congenita, autosomal dominant 2 10.8
43 osteogenesis imperfecta, type xiii 10.8
44 dyskeratosis congenita, autosomal recessive 5 10.8
45 pigmented nodular adrenocortical disease, primary, 4 10.8
46 premature aging syndrome, okamoto type 10.8
47 cleidocranial dysplasia 10.7
48 dyskeratosis congenita, autosomal dominant 1 10.7
49 hyperparathyroidism 2 with jaw tumors 10.7
50 singleton-merten syndrome 1 10.7

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 HP:0000939

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


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

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 69 / NDF-RT 47 :


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:

38
Bone

Publications for Bone Mineral Density Quantitative Trait Locus 15

Articles related to Bone Mineral Density Quantitative Trait Locus 15:

(show top 50) (show all 2634)
# Title Authors Year
1
Relationship between osteoporosis and expression of Bcl-2 and CXCL12. ( 29434715 )
2018
2
Low Grip Strength is a Strong Risk Factor of Osteoporosis in Postmenopausal Women. ( 29430846 )
2018
3
Denosumab: A Review in Postmenopausal Osteoporosis. ( 29435849 )
2018
4
Screening for Geriatric Syndromes: Falls, Urinary/Fecal Incontinence, and Osteoporosis. ( 29129217 )
2018
5
MiRNA-133a is involved in the regulation of postmenopausal osteoporosis through promoting osteoclast differentiation. ( 29425279 )
2018
6
Calcium supplementation in osteoporosis: useful or harmful. ( 29440373 )
2018
7
Inhibiting Cellular Senescence: A New Therapeutic Paradigm for Age-Related Osteoporosis. ( 29425296 )
2018
8
Development of an mHealth Application for Women Newly Diagnosed with Osteoporosis without Preceding Fractures: A Participatory Design Approach. ( 29438343 )
2018
9
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome. ( 29289389 )
2018
10
Association Between Vitamin K Epoxide Reductase (VKORC1) -1639G>A Polymorphism and Osteoporosis in Postmenopausal Women. ( 29437025 )
2018
11
Referral patterns to an osteoporosis clinic for dermatology patients undergoing prolonged corticosteroid therapy. ( 29447676 )
2018
12
Cardiovascular Autonomic Dysfunction: Link Between Multiple Sclerosis Osteoporosis and Neurodegeneration. ( 29429076 )
2018
13
Gout as a risk factor for osteoporosis: epidemiologic evidence from a population-based longitudinal study involving 108,060 individuals. ( 29383389 )
2018
14
Comparison of three tools for predicting primary osteoporosis in an elderly male population in Beijing: a cross-sectional study. ( 29440880 )
2018
15
Significant improvement of bone mineral density by denosumab without bisphosphonate pre-treatment in glucocorticoid-induced osteoporosis. ( 29251033 )
2018
16
Autophagy as a target for glucocorticoid-induced osteoporosis therapy. ( 29427075 )
2018
17
Just the FRAX: Management ofA Glucocorticoid-Induced Osteoporosis. ( 29337149 )
2018
18
Does the Association of Comorbidity with 1-Year Mortality After Hip Fracture Differ According to Gender? The Norwegian Epidemiologic Osteoporosis Studies (NOREPOS). ( 29427505 )
2018
19
Psychometric properties and assessment of the Osteoporosis Health Belief Scale among the general Arabic population. ( 29440877 )
2018
20
The increase in bone mineral density by bisphosphonate with active vitamin D analogue is associated with the serum calcium level within the reference interval in postmenopausal osteoporosis. ( 29451049 )
2018
21
Using a sequential explanatory mixed method to evaluate the therapeutic window of opportunity for initiating osteoporosis treatment following fragility fractures. ( 29445831 )
2018
22
Minimally invasive transforaminal lumbar interbody fusion using bone cement-augmented pedicle screws for lumbar spondylolisthesis in patients with osteoporosis. Case series and review of literature. ( 29322970 )
2018
23
Should women be screened for osteoporosis at midlife? ( 29447485 )
2018
24
Does industry-sponsored education foster overdiagnosis and overtreatment of depression, osteoporosis and over-active bladder syndrome? An Australian cohort study. ( 29440213 )
2018
25
Effect of Traditional Chinese Medicine Product, QiangGuYin, on Bone Mineral Density and Bone Turnover in Chinese Postmenopausal Osteoporosis. ( 28512501 )
2017
26
Transplantation of HGF modified Dental Pulp Stem Cells Prevents Bone Loss in the Early Phase of Ovariectomy-induced Osteoporosis. ( 28950723 )
2017
27
Combination Therapy of Raloxifene and Alendronate for Treatment of Osteoporosis in Elderly Women. ( 28523260 )
2017
28
Comment on 2017 American College of Rheumatology Guideline for the Prevention and Treatment of Glucocorticoid-Induced Osteoporosis. ( 28941168 )
2017
29
The osteogenesis-promoting effects of alpha-lipoic acid against glucocorticoid-induced osteoporosis through the NOX4, NF-kappaB, JNK and PI3K/AKT pathways. ( 28611356 )
2017
30
Epidemiology of Bone Fracture in Female Trauma Patients Based on Risks of Osteoporosis Assessed using the Osteoporosis Self-Assessment Tool for Asians Score. ( 29137199 )
2017
31
SIRT1 is a positive regulator of in vivo bone mass and a therapeutic target for osteoporosis. ( 28937996 )
2017
32
Targeting osteoblastic casein kinase-2 interacting protein-1 to enhance Smad-dependent BMP signaling and reverse bone formation reduction in glucocorticoid-induced osteoporosis. ( 28128304 )
2017
33
Renal Osteodystrophy or Kidney-Induced Osteoporosis? ( 28497212 )
2017
34
Early vertebroplasty associated with a lower risk of mortality and respiratory failure in aged patients with painful vertebral compression fractures: a population-based cohort study in Taiwan. ( 28483705 )
2017
35
The LIFTMOR-M (Lifting Intervention For Training Muscle and Osteoporosis Rehabilitation for Men) trial: protocol for a semirandomised controlled trial of supervised targeted exercise to reduce risk of osteoporotic fracture in older men with low bone mass. ( 28611110 )
2017
36
Association between primary biliary cholangitis and osteoporosis: meta-analysis. ( 28948408 )
2017
37
Reduced prealbumin is associated with bone mineral density in women with osteoporosis. ( 27727007 )
2017
38
TNF-I+ Promotes Osteoclastogenesis through JNK Signaling-Dependent Induction of Semaphorin3D Expression in Estrogen-Deficiency Induced Osteoporosis. ( 28059444 )
2017
39
2017 American College of Rheumatology Guideline for the Prevention and Treatment of Glucocorticoid-Induced Osteoporosis. ( 28585373 )
2017
40
Comparison of tissue transglutaminase 2 and bone biological markers osteocalcin, osteopontin and sclerostin expression in human osteoporosis and osteoarthritis. ( 27357308 )
2017
41
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. ( 29131652 )
2017
42
Effect of intervention initiation timing of pulsed electromagnetic field on ovariectomy-induced osteoporosis in rats. ( 28510268 )
2017
43
Alpinumisoflavone protects against glucocorticoid-induced osteoporosis through suppressing the apoptosis of osteoblastic and osteocytic cells. ( 29203387 )
2017
44
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome. ( 28891484 )
2017
45
Evaluation of the anti-osteoporotic effect of Ginkgo biloba L. in Wistar rats with glucocorticoid-induced-osteoporosis by bone densitometry using dual-energy x-ray absorptiometry (DEXA) and mechanical testing. ( 29044313 )
2017
46
Osteoporosis in Stickler syndrome. A new family case with bone histology study. ( 28159459 )
2017
47
Denosumab treatment in postmenopausal women with osteoporosis. ( 28938991 )
2017
48
Women's Health: Polycystic Ovarian Syndrome, Menopause, and Osteoporosis. ( 28501236 )
2017
49
The Prevalence and Risk Factors of Osteoporosis among a Saudi Female Diabetic Population. ( 28507624 )
2017
50
Bone biomarker for the clinical assessment of osteoporosis: recent developments and future perspectives. ( 28529755 )
2017

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 CALCR NM_001164737.1(CALCR): c.1442T> C (p.Leu481Pro) single nucleotide variant risk factor rs1801197 GRCh37 Chromosome 7, 93055753: 93055753
2 PDLIM4 RIL, -3333T-C single nucleotide variant risk factor

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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