MCID: BNM015
MIFTS: 25

Bone Mineral Density Quantitative Trait Locus 18

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

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 58 30 6 41
Bone Mineral Density Qtl18, Osteoporosis 58 30
Osteoporosis and Osteoporotic Fractures, Susceptibility to 58
Osteoporosis and Osteoporotic Fractures 58
X-Linked Osteoporosis with Fractures 60
Bmnd18 58

Characteristics:

Orphanet epidemiological data:

60
x-linked osteoporosis with fractures
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures


HPO:

33
bone mineral density quantitative trait locus 18:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300910
ICD10 via Orphanet 35 M80.5
Orphanet 60 ORPHA391330
MedGen 43 C3806712

Summaries for Bone Mineral Density Quantitative Trait Locus 18

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

Description from OMIM: 300910

Related Diseases for Bone Mineral Density Quantitative Trait Locus 18

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:

33
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 osteoporosis 33 HP:0000939
3 vertebral compression fractures 33 HP:0002953

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
osteoporosis
multiple fractures after minor trauma

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

Skeletal Pelvis:
pelvic fractures

Skeletal Hands:
finger fractures after minor trauma

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

Skeletal Spine:
vertebral compression fractures, multiple

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

Clinical features from OMIM:

300910

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 18

Search Clinical Trials , 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 30 PLS3
2 Bone Mineral Density Qtl18, Osteoporosis 30

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 18

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

42
Bone, Spinal Cord

Publications for Bone Mineral Density Quantitative Trait Locus 18

Articles related to Bone Mineral Density Quantitative Trait Locus 18:

(show all 15)
# Title Authors Year
1
Osteoporosis and Osteoporotic Fractures in Gastrointestinal Disease. ( 30574465 )
2018
2
Prevention and management of osteoporosis and osteoporotic fractures in persons with a spinal cord injury or disorder: A systematic scoping review. ( 29745791 )
2018
3
[Epidemiology of bone and joint disease - the present and future - . Health economics of osteoporosis and osteoporotic fractures]. ( 24769682 )
2014
4
[Epidemiology of osteoporosis and osteoporotic fractures]. ( 25427396 )
2014
5
Epidemiology of Osteoporosis and Osteoporotic Fractures in South Korea. ( 24396660 )
2013
6
A glimpse from the past: osteoporosis and osteoporotic fractures in a portuguese identified skeletal sample. ( 24131908 )
2013
7
Biochemical markers of bone turnover as predictors of osteoporosis and osteoporotic fractures in men and women: 10-year follow-up of the Taiji cohort. ( 21512822 )
2011
8
Review: Low-molecular-weight heparin-induced osteoporosis and osteoporotic fractures: a myth or an existing entity? ( 19934178 )
2010
9
Risk factors for the development of osteoporosis and osteoporotic fractures among older men. ( 19605671 )
2009
10
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. ( 18455228 )
2008
11
Efficacy of optimization of vitamin D in preventing osteoporosis and osteoporotic fractures: A systematic review. ( 21432375 )
2006
12
Prevention of osteoporosis and osteoporotic fractures in postmenopausal women: recommendation statement from the Canadian Task Force on Preventive Health Care. ( 15159360 )
2004
13
Osteoporosis and osteoporotic fractures in men: a clinical perspective. ( 11035908 )
2000
14
Epidemiology of osteoporosis and osteoporotic fractures. ( 3902494 )
1985
15
Prevention of osteoporosis and osteoporotic fractures. ( 4082577 )
1985

Variations for Bone Mineral Density Quantitative Trait Locus 18

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

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 HTR2C; IL13RA2; LRCH2; LUZP4; MIR448; PLS3; RBMXL3 NC_000023.10 deletion Pathogenic GRCh37 Chromosome X, 113050826: 114941807
2 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh37 Chromosome X, 153763492: 153763492
3 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh38 Chromosome X, 154535277: 154535277
4 PLS3 NM_005032.6(PLS3): c.235delT (p.Tyr79Ilefs) deletion association rs397518463 GRCh37 Chromosome X, 114856719: 114856719
5 PLS3 NM_005032.6(PLS3): c.235delT (p.Tyr79Ilefs) deletion association rs397518463 GRCh38 Chromosome X, 115622407: 115622407
6 PLS3 NM_005032.6(PLS3): c.1471C> T (p.Gln491Ter) single nucleotide variant association rs397518421 GRCh37 Chromosome X, 114880815: 114880815
7 PLS3 NM_005032.6(PLS3): c.1471C> T (p.Gln491Ter) single nucleotide variant association rs397518421 GRCh38 Chromosome X, 115646495: 115646495
8 PLS3 NM_005032.6(PLS3): c.321T> A (p.Gly107=) single nucleotide variant Benign rs140121121 GRCh37 Chromosome X, 114863593: 114863593
9 PLS3 NM_005032.6(PLS3): c.321T> A (p.Gly107=) single nucleotide variant Benign rs140121121 GRCh38 Chromosome X, 115629281: 115629281
10 PLS3 NM_005032.6(PLS3): c.256delA (p.Ser86Valfs) deletion Pathogenic rs1135402748 GRCh37 Chromosome X, 114863528: 114863528
11 PLS3 NM_005032.6(PLS3): c.256delA (p.Ser86Valfs) deletion Pathogenic rs1135402748 GRCh38 Chromosome X, 115629216: 115629216

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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