BMND18
MCID: BNM015
MIFTS: 33

Bone Mineral Density Quantitative Trait Locus 18 (BMND18)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 18

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 18:

Name: Bone Mineral Density Quantitative Trait Locus 18 57 28 5 38
Bone Mineral Density Qtl18, Osteoporosis 57 28
Osteoporosis and Osteoporotic Fractures, Susceptibility to 57
Osteoporosis and Osteoporotic Fractures 57
X-Linked Osteoporosis with Fractures 58
Bmnd18 57

Characteristics:


Inheritance:

Bone Mineral Density Quantitative Trait Locus 18: X-linked dominant 57
X-Linked Osteoporosis with Fractures: X-linked recessive 58

Prevelance:

X-Linked Osteoporosis with Fractures: <1/1000000 (Worldwide) 58

Age Of Onset:

X-Linked Osteoporosis with Fractures: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 300910
ICD10 via Orphanet 32 M80.5
Orphanet 58 ORPHA391330
MedGen 40 C3806712

Summaries for Bone Mineral Density Quantitative Trait Locus 18

Orphanet: 58 X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.

MalaCards based summary: Bone Mineral Density Quantitative Trait Locus 18, also known as bone mineral density qtl18, osteoporosis, is related to bone mineral density quantitative trait locus 8 and bone mineral density quantitative trait locus 15. An important gene associated with Bone Mineral Density Quantitative Trait Locus 18 is PLS3 (Plastin 3). Affiliated tissues include bone, breast and spinal cord, and related phenotypes are osteopenia and osteoporosis

More information from OMIM: 300910

Related Diseases for Bone Mineral Density Quantitative Trait Locus 18

Diseases in the Bone Mineral Density Quantitative Trait Locus 15 family:

Bone Mineral Density Quantitative Trait Locus 4 Bone Mineral Density Quantitative Trait Locus 18
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 16
Bone Mineral Density Quantitative Trait Locus 17

Diseases related to Bone Mineral Density Quantitative Trait Locus 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 bone mineral density quantitative trait locus 8 10.8
2 bone mineral density quantitative trait locus 15 10.8
3 hypogonadism 10.3
4 hyperparathyroidism 10.3
5 osteogenesis imperfecta, type i 10.1
6 osteogenesis imperfecta, type vi 10.1
7 turner syndrome 10.1
8 cone-rod dystrophy 2 10.1
9 type 2 diabetes mellitus 10.1
10 celiac disease 1 10.1
11 hypoascorbemia 10.1
12 osteoporosis, juvenile 10.1
13 graves disease 1 10.1
14 bone disease 10.1
15 rickets 10.1
16 primary hyperparathyroidism 10.1
17 vitamin k deficiency bleeding 10.1
18 keratomalacia 10.1
19 alcohol use disorder 10.1
20 arthropathy 10.1
21 gastrointestinal system disease 10.1
22 hyperthyroidism 10.1
23 diabetes mellitus 10.1
24 spinal cord injury 10.1
25 osteoporosis 10.0
26 brittle bone disorder 10.0

Graphical network of the top 20 diseases related to Bone Mineral Density Quantitative Trait Locus 18:



Diseases related to Bone Mineral Density Quantitative Trait Locus 18

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 18

Human phenotypes related to Bone Mineral Density Quantitative Trait Locus 18:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 30 HP:0000938
2 osteoporosis 30 HP:0000939
3 vertebral compression fracture 30 HP:0002953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteopenia
osteoporosis
multiple fractures after minor trauma

Chest Ribs Sternum Clavicles And Scapulae:
rib fractures after coughing (in some patients)

Skeletal Spine:
vertebral compression fractures, multiple

Skeletal Hands:
finger fractures after minor trauma

Skeletal Limbs:
long bone fractures after minor trauma
hypermobility of elbow and knee joints

Skeletal Skull:
skull fracture after fall (in some patients)

Skeletal Pelvis:
pelvic fractures

Clinical features from OMIM®:

300910 (Updated 08-Dec-2022)

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 18

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BREAST CANCER AND EXERCISE BREX: A Multicenter Phase III Open Randomised Trial of the Efficacy of Exercise in the Prevention of Long-term Adverse Effects of Adjuvant Treatments and Breast Cancer Recurrences in Women With Primary Breast Cancer. Completed NCT00639210 Phase 3

Search NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 18

Genetic Tests for Bone Mineral Density Quantitative Trait Locus 18

Genetic tests related to Bone Mineral Density Quantitative Trait Locus 18:

# Genetic test Affiliating Genes
1 Bone Mineral Density Quantitative Trait Locus 18 28 PLS3
2 Bone Mineral Density Qtl18, Osteoporosis 28

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 18

Organs/tissues related to Bone Mineral Density Quantitative Trait Locus 18:

MalaCards : Bone, Breast, Spinal Cord, Bone Marrow, Prostate, Thyroid, Skin

Publications for Bone Mineral Density Quantitative Trait Locus 18

Articles related to Bone Mineral Density Quantitative Trait Locus 18:

(show top 50) (show all 170)
# Title Authors PMID Year
1
PLS3 mutations in X-linked osteoporosis with fractures. 62 57 5
24088043 2013
2
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
3
Quality of life in postmenopausal women with osteoporosis: a systematic review and meta-analysis. 62
36383282 2022
4
Histomorphometric analysis of osteocyte density and trabecular structure of 92 vertebral bodies of different ages and genders. 62
36403851 2022
5
Parkin Inhibits RANKL-Induced Osteoclastogenesis and Ovariectomy-Induced Bone Loss. 62
36358952 2022
6
Glucocorticoid-Induced Bone Loss: Dietary Supplementation Recommendations to Reduce the Risk for Osteoporosis and Osteoporotic Fractures. 62
36446101 2022
7
Anti-osteoporotic treatment after hip fracture remains alarmingly low. 62
36205166 2022
8
Osteoporosis pathogenesis and treatment: existing and emerging avenues. 62
36058940 2022
9
Association of skin autofluorescence with low bone density/osteoporosis and osteoporotic fractures in type 2 diabetes mellitus. 62
36058895 2022
10
The effects and mechanism of paeoniflorin in promoting osteogenic differentiation of MC3T3-E1. 62
35164817 2022
11
Application and prospect of trabecular bone score in differentiated thyroid cancer patients receiving thyrotropin suppression therapy. 62
36313757 2022
12
Improving bone health: addressing the burden through an integrated approach. 62
34613608 2021
13
Clinical Utility of Trabecular Bone Score (TBS) in Fracture Risk Assessment of Patients with Rheumatic Diseases Treated with Glucocorticoids. 62
34384106 2021
14
Vertebral bone marrow T2* mapping using chemical shift encoding-based water-fat separation in the quantitative analysis of lumbar osteoporosis and osteoporotic fractures. 62
34341744 2021
15
Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications. 62
33927194 2021
16
Characteristics of Osteoporosis & Osteoporotic Fractures in Korea Based on Health Insurance Review and Assessment (HIRA) Database: 2009-2017. 62
33799330 2021
17
Evaluating and Strengthening the Evidence for Nutritional Bone Research: Ready to Break New Ground? 62
33503301 2021
18
The Value of Historical Height Loss for Detecting Vertebral Fractures in Postmenopausal Women in China. 62
33043720 2021
19
Chemical IN04 Inhibits the Kinase Domain not the ROC Domain of LRRK1: Results from Homology Modeling and Molecular Docking. 62
32972350 2021
20
MEF2C regulates osteoclastogenesis and pathologic bone resorption via c-FOS. 62
33424022 2021
21
Incidence and risk factors for osteoporotic fractures in patients with systemic lupus erythematosus versus matched controls. 62
31234614 2021
22
Prevalence of osteoporosis among the elderly population of Iran. 62
33475880 2021
23
Association between Irritable Bowel Syndrome and Risk of Osteoporosis in Korean Premenopausal Women. 62
34148043 2021
24
Osteoporosis in diabetes mellitus patients. 62
35459395 2021
25
The Irish dual-energy X-ray absorptiometry (DXA) Health Informatics Prediction (HIP) for Osteoporosis Project. 62
33371026 2020
26
Electrical Stimulation of Adipose-Derived Stem Cells in 3D Nanofibrillar Cellulose Increases Their Osteogenic Potential. 62
33353222 2020
27
Pentosidine and carboxymethyl-lysine associate differently with prevalent osteoporotic vertebral fracture and various bone markers. 62
33328494 2020
28
Osteoporotic Fractures of the Spine, Hip, and Other Locations after Adjuvant Endocrine Therapy with Aromatase Inhibitors in Breast Cancer Patients: a Meta-analysis. 62
33258332 2020
29
Economic implications of osteoporotic fractures in postmenopausal women. 62
33263967 2020
30
Late-onset Hypogonadism: Bone health. 62
32469467 2020
31
Selenium and bone health: a protocol for a systematic review and meta-analysis. 62
33109642 2020
32
The Role of Piper sarmentosum Aqueous Extract as a Bone Protective Agent, a Histomorphometric Study. 62
33086468 2020
33
Review of Secondary Causes of Osteoporotic Fractures Due to Diabetes and Spinal Cord Injury. 62
32147752 2020
34
Expansion of Bone Precursors through Jun as a Novel Treatment for Osteoporosis-Associated Fractures. 62
32197115 2020
35
Health state utility values of osteoporotic fractures among Korean women. 62
31092075 2020
36
Felodipine blocks osteoclast differentiation and ameliorates estrogen-dependent bone loss in mice by modulating p38 signaling pathway. 62
31877305 2020
37
Age at attainment of peak bone mineral density and its associated factors: The National Health and Nutrition Examination Survey 2005-2014. 62
31760214 2020
38
Effect of eight-section brocade on bone mineral density in middle age and elderly people: Protocol for a systematic review and meta-analysis of randomised controlled trials. 62
31895794 2020
39
Effect of Tamoxifen on the Risk of Osteoporosis and Osteoporotic Fracture in Younger Breast Cancer Survivors: A Nationwide Study. 62
32266146 2020
40
Human umbilical cord mesenchymal stromal cells-derived extracellular vesicles exert potent bone protective effects by CLEC11A-mediated regulation of bone metabolism. 62
32089743 2020
41
Prevention and management of osteoporosis and osteoporotic fractures in persons with a spinal cord injury or disorder: A systematic scoping review. 62
29745791 2019
42
Good long-term glycemic compensation is associated with better trabecular bone score in postmenopausal women with type 2 diabetes. 62
31842578 2019
43
Accuracy of FRAX® in People With Multiple Sclerosis. 62
30690793 2019
44
Effects of Milk and Dairy Products on the Prevention of Osteoporosis and Osteoporotic Fractures in Europeans and Non-Hispanic Whites from North America: A Systematic Review and Updated Meta-Analysis. 62
31089740 2019
45
Disability Weights for Osteoporosis and Osteoporotic Fractures in South Korea. 62
31223604 2019
46
Transforming growth factor-╬▓3 relation with osteoporosis and osteoporotic fractures. 62
31160913 2019
47
The trend of osteoporosis and osteoporotic fragility fractures in inpatients: results from a national database. 62
31258859 2019
48
Current Progress on MicroRNA-Based Gene Delivery in the Treatment of Osteoporosis and Osteoporotic Fracture. 62
30962808 2019
49
Osteoporosis and Osteoporotic Fractures in Gastrointestinal Disease. 62
30574465 2018
50
Effect of improved medication adherence on health care costs in osteoporosis patients. 62
30045269 2018

Variations for Bone Mineral Density Quantitative Trait Locus 18

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 18:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLS3 NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter) SNV Association
88701 rs397518421 GRCh37: X:114880815-114880815
GRCh38: X:115646495-115646495
2 PLS3 NM_005032.7(PLS3):c.235del (p.Tyr79fs) DEL Association
88700 rs397518463 GRCh37: X:114856717-114856717
GRCh38: X:115622405-115622405
3 PLS3 NM_005032.7(PLS3):c.321T>A (p.Gly107=) SNV Association
88702 rs140121121 GRCh37: X:114863593-114863593
GRCh38: X:115629281-115629281
4 overlap with 7 genes NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del DEL Pathogenic
209215 GRCh37: X:113050826-114941807
GRCh38:
5 PLS3 NM_005032.7(PLS3):c.256del (p.Ser86fs) DEL Pathogenic
431450 rs1135402748 GRCh37: X:114863524-114863524
GRCh38: X:115629212-115629212
6 overlap with 7 genes GRCh37/hg19 Xq23(chrX:113097589-114931342) CN LOSS Pathogenic
625796 GRCh37: X:113097589-114931342
GRCh38:
7 PLS3 NM_005032.7(PLS3):c.216_219del (p.Ser73fs) DEL Pathogenic
976717 rs2074664927 GRCh37: X:114856699-114856702
GRCh38: X:115622387-115622390
8 PLS3 NM_005032.7(PLS3):c.501-1G>A SNV Likely Pathogenic
1687261 GRCh37: X:114868311-114868311
GRCh38: X:115633999-115633999
9 PLS3 NM_005032.7(PLS3):c.367+2T>C SNV Likely Pathogenic
1687459 GRCh37: X:114863641-114863641
GRCh38: X:115629329-115629329
10 PLS3 NM_005032.7(PLS3):c.514del (p.Leu172fs) DEL Likely Pathogenic
804077 rs1603241972 GRCh37: X:114868324-114868324
GRCh38: X:115634012-115634012
11 PLS3 NM_005032.7(PLS3):c.359C>T (p.Ser120Phe) SNV Uncertain Significance
1708112 GRCh37: X:114863631-114863631
GRCh38: X:115629319-115629319
12 PLS3 NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) SNV Uncertain Significance
1699109 GRCh37: X:114863619-114863619
GRCh38: X:115629307-115629307
13 PLS3 NM_005032.7(PLS3):c.892-254T>C SNV Likely Benign
1330990 GRCh37: X:114874466-114874466
GRCh38: X:115640154-115640154
14 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Benign
100055 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277

Expression for Bone Mineral Density Quantitative Trait Locus 18

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 18.

Pathways for Bone Mineral Density Quantitative Trait Locus 18

GO Terms for Bone Mineral Density Quantitative Trait Locus 18

Sources for Bone Mineral Density Quantitative Trait Locus 18

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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