MCID: BNM015
MIFTS: 29

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 57 29 6 40
Bone Mineral Density Qtl18, Osteoporosis 57 29
Osteoporosis and Osteoporotic Fractures, Susceptibility to 57
Osteoporosis and Osteoporotic Fractures 57
X-Linked Osteoporosis with Fractures 59
Bmnd18 57

Characteristics:

Orphanet epidemiological data:

59
x-linked osteoporosis with fractures
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
bone mineral density quantitative trait locus 18:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300910
Orphanet 59 ORPHA391330
ICD10 via Orphanet 34 M80.5
MedGen 42 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, spinal cord and breast, 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 osteoporosis 32 HP:0000939
3 vertebral compression fractures 32 HP:0002953

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 29 PLS3
2 Bone Mineral Density Qtl18, Osteoporosis 29

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 18

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

41
Bone, Spinal Cord, Breast

Publications for Bone Mineral Density Quantitative Trait Locus 18

Articles related to Bone Mineral Density Quantitative Trait Locus 18:

(show all 14)
# Title Authors Year
1
Prevention and management of osteoporosis and osteoporotic fractures in persons with a spinal cord injury or disorder: A systematic scoping review. ( 29745791 )
2018
2
[Epidemiology of bone and joint disease - the present and future - . Health economics of osteoporosis and osteoporotic fractures]. ( 24769682 )
2014
3
[Epidemiology of osteoporosis and osteoporotic fractures]. ( 25427396 )
2014
4
Epidemiology of Osteoporosis and Osteoporotic Fractures in South Korea. ( 24396660 )
2013
5
A glimpse from the past: osteoporosis and osteoporotic fractures in a portuguese identified skeletal sample. ( 24131908 )
2013
6
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
7
Review: Low-molecular-weight heparin-induced osteoporosis and osteoporotic fractures: a myth or an existing entity? ( 19934178 )
2010
8
Risk factors for the development of osteoporosis and osteoporotic fractures among older men. ( 19605671 )
2009
9
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. ( 18455228 )
2008
10
Efficacy of optimization of vitamin D in preventing osteoporosis and osteoporotic fractures: A systematic review. ( 21432375 )
2006
11
Prevention of osteoporosis and osteoporotic fractures in postmenopausal women: recommendation statement from the Canadian Task Force on Preventive Health Care. ( 15159360 )
2004
12
Osteoporosis and osteoporotic fractures in men: a clinical perspective. ( 11035908 )
2000
13
Epidemiology of osteoporosis and osteoporotic fractures. ( 3902494 )
1985
14
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
# Gene Variation Type Significance SNP ID Assembly Location
1 PLS3 NM_005032.6(PLS3): c.235delT (p.Tyr79Ilefs) deletion association rs397518463 GRCh37 Chromosome X, 114856719: 114856719
2 PLS3 NM_005032.6(PLS3): c.235delT (p.Tyr79Ilefs) deletion association rs397518463 GRCh38 Chromosome X, 115622407: 115622407
3 PLS3 NM_005032.6(PLS3): c.1471C> T (p.Gln491Ter) single nucleotide variant association rs397518421 GRCh37 Chromosome X, 114880815: 114880815
4 PLS3 NM_005032.6(PLS3): c.1471C> T (p.Gln491Ter) single nucleotide variant association rs397518421 GRCh38 Chromosome X, 115646495: 115646495
5 PLS3 NM_005032.6(PLS3): c.321T> A (p.Gly107=) single nucleotide variant Benign rs140121121 GRCh37 Chromosome X, 114863593: 114863593
6 PLS3 NM_005032.6(PLS3): c.321T> A (p.Gly107=) single nucleotide variant Benign rs140121121 GRCh38 Chromosome X, 115629281: 115629281
7 HTR2C; IL13RA2; LRCH2; LUZP4; MIR448; PLS3; RBMXL3 NC_000023.10 deletion Pathogenic GRCh37 Chromosome X, 113050826: 114941807
8 PLS3 NM_005032.6(PLS3): c.256delA (p.Ser86Valfs) deletion Pathogenic rs1135402748 GRCh37 Chromosome X, 114863528: 114863528
9 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 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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