MCID: BNM029
MIFTS: 38

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 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 dominant
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 613418
MedGen 42 C3150680
SNOMED-CT via HPO 69 263681008 258211005 64859006
UMLS 73 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 angina pectoris, back pain and muscle cramp. An important gene associated with Bone Mineral Density Quantitative Trait Locus 15 is MIR2861 (MicroRNA 2861), and among its related pathways/superpathways are HIV Transcription Elongation and Regulation of TP53 Activity. Affiliated tissues include bone, bone marrow and lung, and related phenotype is osteoporosis.

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 415)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 32.4 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 11.8
11 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.8
12 hajdu-cheney syndrome 11.8
13 cutis laxa osteoporosis 11.8
14 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.8
15 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 11.8
16 lrp5-related primary osteoporosis 11.8
17 bone mineral density quantitative trait locus 18 11.7
18 acroosteolysis dominant type 11.6
19 bone mineral density quantitative trait locus 16 11.5
20 premature ovarian failure 1 11.3
21 werner syndrome 11.2
22 lysinuric protein intolerance 11.1
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 bone disease 11.1
29 bone mineral density quantitative trait locus 8 11.1
30 anorexia nervosa 11.0
31 cerebrotendinous xanthomatosis 11.0
32 severe congenital neutropenia 11.0
33 osteopetrosis 11.0
34 cleft palate, isolated 11.0
35 graves' disease 11.0
36 homocystinuria 11.0
37 bone mineral density quantitative trait locus 12 11.0
38 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
39 multicentric osteolysis, nodulosis, and arthropathy 10.9
40 winchester syndrome 10.9
41 aromatase deficiency 10.9
42 premature aging syndrome, okamoto type 10.8
43 dyskeratosis congenita, autosomal recessive 1 10.8
44 hyaline fibromatosis syndrome 10.8
45 prader-willi habitus, osteopenia, and camptodactyly 10.8
46 osteogenesis imperfecta, type xii 10.8
47 dyskeratosis congenita, autosomal dominant 2 10.8
48 osteogenesis imperfecta, type xiii 10.8
49 dyskeratosis congenita, autosomal recessive 5 10.8
50 pigmented nodular adrenocortical disease, primary, 4 10.8

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:


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

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, Bone Marrow, Lung

Publications for Bone Mineral Density Quantitative Trait Locus 15

Articles related to Bone Mineral Density Quantitative Trait Locus 15:

(show top 50) (show all 53)
# Title Authors Year
1
Risk of vertebral compression fractures in multiple myeloma patients: A finite-element study. ( 28079810 )
2017
2
Nontraumatic Multiple Vertebral Compression Fractures Induced by Primary Hyperparathyroidism: A Case Report and Literature Review. ( 28882718 )
2017
3
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
4
Occurrence of sudden paraplegia during follow-up period of thoracic vertebral compression fracture in a case with spinal epidural lipomatosis. ( 29423281 )
2017
5
A case of multiple vertebral compression fractures due to glucocorticoid-induced osteoporosis in a pediatric patient with nephrotic syndromea8c. ( 27936525 )
2016
6
Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. ( 27941685 )
2016
7
Undiagnosed vertebral hemangioma causing a lumbar compression fracture and epidural hematoma in a parturient undergoing vaginal delivery under epidural analgesia: a case report. ( 25860127 )
2015
8
Compression Fractures in the Setting of Diffuse Idiopathic Skeletal Hyperostosis. ( 26240727 )
2015
9
Posterior Lumbar Stabilization Surgery under Spinal Anesthesia for High-Risk Patients with Degenerative Spondylolisthesis, Spinal Stenosis and Lumbar Compression Fracture. ( 26442544 )
2015
10
Erdheim-chester disease in thoracic spine : a rare case of compression fracture. ( 26549136 )
2015
11
Vertebral Bone Marrow Edema (VBME) in Conservatively Treated Acute Vertebral Compression Fractures (VCFs): Evolution and Clinical Correlations. ( 25946722 )
2015
12
Improvement in Pulmonary Function of Chronic Obstructive Pulmonary Disease (COPD) Patients With Osteoporotic Vertebral Compression Fractures (OVCFs) After Kyphoplasty Under Local Anesthesia. ( 25785335 )
2015
13
[Percutaneous vertebroplasty for senile osteoporotic vertebral compressive fractures with posterior vertebral defect and spinal canal compromise]. ( 26333498 )
2015
14
[Application of Jintian'ge capsule in treatment of vertebral compression fracture in senile osteoporosis patients]. ( 26087567 )
2015
15
Vertebral compression fractures as the initial presentation of AL amyloidosis: case series and review of literature. ( 26104853 )
2015
16
[Imaging assessing symptomatic vertebral compression fracture to be treated by vertebroplasty and kyphoplasty in osteoporosis patients]. ( 24854750 )
2014
17
Rosai-dorfman disease in thoracic spine: a rare case of compression fracture. ( 25346769 )
2014
18
Spinal bone marrow necrosis with vertebral compression fracture: differentiation of BMN from AVN. ( 24848671 )
2014
19
Tumor extravasation following a cement augmentation procedure for vertebral compression fracture in metastatic spinal disease. ( 24905395 )
2014
20
Percutaneous vertebroplasty in symptomatic hemangioma versus osteoporotic compression fracture. ( 23798752 )
2013
21
Yoga spinal flexion positions and vertebral compression fracture in osteopenia or osteoporosis of spine: case series. ( 22448849 )
2013
22
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. ( 23886840 )
2013
23
Management of Hangman's Fractures and a Subaxial Compression Fracture in Two Children With Osteogenesis Imperfecta. ( 24393194 )
2013
24
Bilateral pedicle stress fracture with adjacent old osteoporotic compression fractures that induced spondylolisthesis. ( 23073655 )
2012
25
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. ( 22749662 )
2012
26
Percutaneous treatment of lumbar compression fracture with canal stenosis and neurogenic intermittent claudication: combining kyphoplasty and interspinous spacer. ( 23101915 )
2012
27
Sudden paraplegia following epidural lipomatosis and thoracal compression fracture after long-term steroid therapy: a case report. ( 20012627 )
2011
28
Solitary vertebral plasmacytoma causing compression fracture in a patient with multiple vertebral hemangiomas: a diagnosis easily missed! ( 22355481 )
2011
29
Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis? ( 20432821 )
2010
30
Prevalence and risk factors of vertebral compression fractures in female SLE patients. ( 20678217 )
2010
31
Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. ( 20881659 )
2010
32
A simple radiological method for recognizing osteoporotic thoracic vertebral compression fractures and distinguishing them from Scheuermann disease. ( 19680108 )
2009
33
Vertebroplasty for vertebral compression fractures secondary to Cushing's syndrome induced by an ACTH-producing bronchial carcinoid tumour. ( 19421671 )
2009
34
Treatment of combined osteoporotic compression fractures and spinal stenosis: use of vertebral augumentation and interspinous process spacer. ( 18758354 )
2008
35
Biochemical markers of bone turnover in percutaneous vertebroplasty for osteoporotic compression fracture. ( 18074174 )
2008
36
The intravertebral vacuum phenomen as specific sign of osteonecrosis in vertebral compression fractures: results from a radiological and histological study. ( 17522865 )
2007
37
Computerized detection of vertebral compression fractures on lateral chest radiographs: preliminary results with a tool for early detection of osteoporosis. ( 17278819 )
2006
38
Histological evaluation of biopsies obtained from vertebral compression fractures: unsuspected myeloma and osteomalacia. ( 15803081 )
2005
39
Computed tomography fluoroscopy-guided lumbar sympathectomy for a patient with peripheral vascular disease and lumbar spine compression fracture. ( 16032461 )
2005
40
Balloon kyphoplasty for vertebral compression fractures secondary to polyostotic fibrous dysplasia. Case report. ( 16235708 )
2005
41
Primary and secondary osteoporosis' incidence of subsequent vertebral compression fractures after kyphoplasty. ( 15454702 )
2004
42
Diagnosis and treatment of osteoporosis in patients with vertebral compression fractures. ( 12657067 )
2003
43
Spinal epidural lipomatosis with thoracic osteoporotic compression fracture causing paraplegia. ( 12923598 )
2003
44
FDG-PET findings of vertebral compression fractures in osteoporosis: preliminary results. ( 12195540 )
2002
45
From surgical imaging...standard and fluoroscopic radiographs demonstrate the instability of thoracic compression fractures and the confluence of findings in fractures resulting from osteoporosis and those resulting from Kummell's disease. ( 14598806 )
2002
46
Osteoporosis / Vertebral Compression Fractures ( 25905264 )
2000
47
Childhood leukemia presenting with back pain and vertebral compression fractures. ( 10220099 )
1999
48
Management of patients with vertebral compression fractures. ( 9915558 )
1999
49
[Distal, metaphyseal compression fractures of the radius. Results of open reposition, stable defect replacement with cortico-cancellous iliac crest bone and plate osteosynthesis]. ( 9847703 )
1998
50
Systemic mastocytosis presenting with severe spinal osteopenia and multiple compression fractures. ( 1802168 )
1991

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 PDLIM4 RIL, -3333T-C single nucleotide variant risk factor
2 CALCR NM_001164737.1(CALCR): c.1442T> C (p.Leu481Pro) single nucleotide variant risk factor rs1801197 GRCh37 Chromosome 7, 93055753: 93055753
3 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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