BMND3
MCID: BNM018
MIFTS: 34

Bone Mineral Density Quantitative Trait Locus 3 (BMND3)

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

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 3

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 3:

Name: Bone Mineral Density Quantitative Trait Locus 3 57
Bone Mineral Density, Low, Susceptibility to 57
Bone Mineral Density, Low 57
Low Bone Mineral Density 6
Bmnd3 57

Classifications:



External Ids:

OMIM 57 606928

Summaries for Bone Mineral Density Quantitative Trait Locus 3

MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 3, also known as bone mineral density, low, susceptibility to, is related to bone mineral density quantitative trait locus 17 and hypophosphatasia, childhood. An important gene associated with Bone Mineral Density Quantitative Trait Locus 3 is BMND3 (Bone Mineral Density Variability 3). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and endothelial.

Description from OMIM: 606928

Related Diseases for Bone Mineral Density Quantitative Trait Locus 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 bone mineral density quantitative trait locus 17 11.6
2 hypophosphatasia, childhood 11.3
3 osteoporosis 11.1
4 arthritis 10.3
5 inflammatory bowel disease 10.3
6 spondyloarthropathy 1 10.2
7 rheumatoid arthritis 10.2
8 thalassemia 10.2
9 spondylitis 10.2
10 cystic fibrosis 10.1
11 anorexia nervosa 10.1
12 beta-thalassemia 10.1
13 crohn's disease 10.1
14 liver disease 10.1
15 hypogonadism 10.1
16 peroxisome biogenesis disorder-zellweger syndrome spectrum 10.1
17 osteoporotic fracture 10.1
18 systemic lupus erythematosus 10.1
19 scoliosis, isolated 1 10.1
20 celiac disease 1 10.1
21 bone mineral density quantitative trait locus 8 10.1
22 leukemia, acute lymphoblastic 10.1
23 bone mineral density quantitative trait locus 15 10.1
24 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
25 osteonecrosis 10.1
26 ulcerative colitis 10.1
27 colitis 10.1
28 scoliosis 10.1
29 idiopathic scoliosis 10.1
30 nonalcoholic fatty liver disease 10.1
31 lymphocytic leukemia 10.1
32 spondyloarthropathy 10.1
33 amenorrhea 10.1
34 lupus erythematosus 10.1
35 fatty liver disease 10.1
36 achondroplasia 9.9
37 atherosclerosis susceptibility 9.9
38 pseudohypoaldosteronism, type iia 9.9
39 hypochondroplasia 9.9
40 down syndrome 9.9
41 friedreich ataxia 1 9.9
42 lymphoma, hodgkin, classic 9.9
43 phenylketonuria 9.9
44 insulin-like growth factor i 9.9
45 lymphoma, non-hodgkin, familial 9.9
46 psoriatic arthritis 9.9
47 tropical calcific pancreatitis 9.9
48 acute lymphoblastic leukemia, childhood 9.9
49 cerebral palsy 9.9
50 diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Bone Mineral Density Quantitative Trait Locus 3:



Diseases related to Bone Mineral Density Quantitative Trait Locus 3

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 3

Clinical features from OMIM:

606928

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 3

Drugs for Bone Mineral Density Quantitative Trait Locus 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tannic acid Approved Not Applicable
2
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
3
Vitamin D Approved, Nutraceutical, Vet_approved Not Applicable 1406-16-2
4
Ergocalciferol Approved, Nutraceutical Not Applicable 50-14-6 5280793
5
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
6 Micronutrients Not Applicable
7 Calcium, Dietary Not Applicable
8 Bone Density Conservation Agents Not Applicable
9 Trace Elements Not Applicable
10 Vitamins Not Applicable
11 Calciferol Not Applicable
12 Vitamin D2 Not Applicable
13 Ergocalciferols Not Applicable
14 Calcium Supplement Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Bone Mineral Density During Pregnancy Completed NCT02480023 Phase 1
2 Effects of Whole Body Vibration and Pilates on Bone Mineral Density in Postmenopausal Women Completed NCT02769143 Not Applicable
3 High-dose Vitamin D Supplementation for ADT-induced Side Effects Active, not recruiting NCT02064946 Not Applicable

Search NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 3

Genetic Tests for Bone Mineral Density Quantitative Trait Locus 3

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 3

MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 3:

41
Bone, Testes, Endothelial, Kidney, Liver, Ovary, Pituitary

Publications for Bone Mineral Density Quantitative Trait Locus 3

Articles related to Bone Mineral Density Quantitative Trait Locus 3:

(show top 50) (show all 130)
# Title Authors Year
1
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
2
Risk factors for low bone mineral density in pediatric inflammatory bowel disease: the positive role of physical activity. ( 29438136 )
2018
3
Low Bone Mineral Density in Elite Female Athletes With a History of Secondary Amenorrhea in Their Teens. ( 29601346 )
2018
4
Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major. ( 29398822 )
2018
5
A TRAF6 genetic variant is associated with low bone mineral density in rheumatoid arthritis. ( 30506403 )
2018
6
Administration of Intravenous Zoledronic Acid Every 3 Months vs. Annually in β-thalassemia Patients with Low Bone Mineral Density: a Retrospective Comparison of Efficacy. ( 30061760 )
2018
7
Zoledronic Acid for Treatment of Low Bone Mineral Density in Patients with Beta Thalassemia Major. ( 30369735 )
2018
8
Low bone mineral density in ambulatory persons with cerebral palsy? A systematic review. ( 29783868 )
2018
9
Assessment of the risk of low bone mineral density in premenopausal Japanese female patients with systemic lupus erythematosus. ( 29657446 )
2018
10
Imbalanced bone turnover markers and low bone mineral density in patients with osteonecrosis of the femoral head. ( 29589087 )
2018
11
Osteoporosis and low bone mineral density (osteopenia) in rural and remote Queensland. ( 30303279 )
2018
12
Safety of Zoledronic Acid in Patients with Thalassemia Associated Low Bone Mineral Density. ( 29622881 )
2018
13
Low Bone Mineral Density Is Not Associated with Subclinical Atherosclerosis: A Population-Based Study in Rural China. ( 30423564 )
2018
14
Low bone mineral density risk factors and testing patterns in institutionalized adults with intellectual and developmental disabilities. ( 28247586 )
2018
15
Poor Vitamin K Status Is Associated With Low Bone Mineral Density and Increased Fracture Risk in End-Stage Renal Disease. ( 30427544 )
2018
16
Risk of fracture and low bone mineral density in adults with inflammatory bowel diseases. A systematic literature review with meta-analysis. ( 29909470 )
2018
17
Determinants of low bone mineral density in premenopausal polycystic ovary syndrome patients. ( 27908213 )
2017
18
Risk of low bone mineral density in testicular germ cell cancer survivors: association with hypogonadism and treatment modality. ( 28591464 )
2017
19
Pharmacological treatment options for low Bone Mineral Density and secondary osteoporosis in Anorexia Nervosa: A systematic review of the literature. ( 28554377 )
2017
20
Low bone mineral density and the severity of cholestasis in biliary atresia. ( 28652893 )
2017
21
Association between low bone mineral density and fibromyalgia: a meta-analysis. ( 28536824 )
2017
22
Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density. ( 28764845 )
2017
23
Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity. ( 28258940 )
2017
24
Bone edema on magnetic resonance imaging is highly associated with low bone mineral density in patients with ankylosing spondylitis. ( 29240803 )
2017
25
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 28649513 )
2017
26
Efficacy and safety of medical therapy for low bone mineral density in patients with Crohn disease: A systematic review with network meta-analysis. ( 28296781 )
2017
27
Significant liver fibrosis assessed using liver transient elastography is independently associated with low bone mineral density in patients with non-alcoholic fatty liver disease. ( 28759632 )
2017
28
Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 26643206 )
2016
29
Higher Level of Dickkopf-1 is Associated with Low Bone Mineral Density and Higher Prevalence of Vertebral Fractures in Patients with Ankylosing Spondylitis. ( 26645432 )
2016
30
Hyperuricemia Protects Against Low Bone Mineral Density, Osteoporosis and Fractures: A Systematic Review And Meta-Analysis. ( 27636234 )
2016
31
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 27331009 )
2016
32
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
33
Association of the COL1A1 gene polymorphisms in Mexican postmenopausal women with fracture or with low bone mineral density at the hip. ( 26423565 )
2016
34
Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland. ( 26235824 )
2016
35
Low bone mineral density in patients with type 1 diabetes: association with reduced expression of IGF1, IGF1R and TGFa88Ba881 in peripheral blood mononuclear cells. ( 26663878 )
2016
36
Efficacy of pamidronate in pediatric osteosarcoma patients with low bone mineral density. ( 27104175 )
2016
37
Prevalence and risk factors of low bone mineral density in psoriatic arthritis: A systematic review. ( 27346576 )
2016
38
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency. ( 26883219 )
2016
39
Prediction of low bone mineral density in patients with inflammatory bowel diseases. ( 27733909 )
2016
40
Low Levels of Serum Uric Acid Increase the Risk of Low Bone Mineral Density in Young Male Patients with Ankylosing Spondylitis. ( 25834199 )
2015
41
Risk Factors for Low Bone Mineral Density in Institutionalized Individuals with Developmental Disabilities. ( 26290830 )
2015
42
Frequency of low bone mineral density in spondyloarthropathy presenting at a tertiary care hospital. ( 26338744 )
2015
43
Corticosteroids and low bone mineral density affect hip cartilage in systemic lupus erythematosus patients: Quantitative T2 mapping. ( 26019059 )
2015
44
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
45
Association between secreted phosphoprotein-1 (SPP1) polymorphisms and low bone mineral density in women. ( 24831687 )
2014
46
Efficacy and Safety of Medical Therapy for Low Bone Mineral Density in Patients With Inflammatory Bowel Disease: A Meta-analysis and Systematic Review. ( 23981521 )
2014
47
Transcription factor Runx2 in the low bone mineral density of girls with adolescent idiopathic scoliosis. ( 24590987 )
2014
48
Low bone mineral density in patients with Sickle Cell Anaemia (SCA) and short stature should be interpreted with caution. ( 24410917 )
2014
49
Association of vitamin D receptor BsmI gene polymorphism with risk of low bone mineral density in post-menopausal women: a meta-analysis. ( 25299093 )
2014
50
Low bone mineral density is associated to poor glycemic control and increased OPG expression in children and adolescents with type 1 diabetes. ( 24529565 )
2014

Variations for Bone Mineral Density Quantitative Trait Locus 3

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP4 NM_001202.5(BMP4): c.614T> C (p.Val205Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 53950645: 53950645
2 BMP4 NM_001202.5(BMP4): c.614T> C (p.Val205Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 54417363: 54417363

Expression for Bone Mineral Density Quantitative Trait Locus 3

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 3.

Pathways for Bone Mineral Density Quantitative Trait Locus 3

GO Terms for Bone Mineral Density Quantitative Trait Locus 3

Sources for Bone Mineral Density Quantitative Trait Locus 3

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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