Bone Mineral Density Quantitative Trait Locus 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Osteoporosis with pathological fracture

Idiopathic osteoporosis with pathological fracture

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300910

Orphanet ⁵⁹ ORPHA391330

ICD10 via Orphanet ³⁴ M80.5

MedGen ⁴² C3806712

SNOMED-CT via HPO ⁶⁹ 312894000 78441005 64859006 more

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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

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Related Diseases for Bone Mineral Density Quantitative Trait Locus 18

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

#	Related Disease	Score
1	osteoporosis	10.7
2	osteoporotic fracture	10.7
3	bone mineral density quantitative trait locus 8	10.2
4	bone mineral density quantitative trait locus 15	10.2
5	spinal cord injury	10.0

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

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

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Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 18

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

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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

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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

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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 )	Zleik N...Carbone L	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 )	Lee Y.K....Koo K.H.	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 )	Yoshimura N...Akune T	2011
7	Review: Low-molecular-weight heparin-induced osteoporosis and osteoporotic fractures: a myth or an existing entity? ( 19934178 )	Lefkou E...Hunt BJ	2010
8	Risk factors for the development of osteoporosis and osteoporotic fractures among older men. ( 19605671 )	Thomas-John M...Mongey AB	2009
9	Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. ( 18455228 )	Richards J.B....Spector T.D.	2008
10	Efficacy of optimization of vitamin D in preventing osteoporosis and osteoporotic fractures: A systematic review. ( 21432375 )	Nakamura K...Iki M	2006
11	Prevention of osteoporosis and osteoporotic fractures in postmenopausal women: recommendation statement from the Canadian Task Force on Preventive Health Care. ( 15159360 )	Cheung AM...Canadian Task Force on Preventive Health Care	2004
12	Osteoporosis and osteoporotic fractures in men: a clinical perspective. ( 11035908 )	Vanderschueren D...Bouillon R	2000
13	Epidemiology of osteoporosis and osteoporotic fractures. ( 3902494 )	Cummings SR...O'Dowd KJ	1985
14	Prevention of osteoporosis and osteoporotic fractures. ( 4082577 )	Cummings SR...Haber RJ	1985

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Genes for Bone Mineral Density Quantitative Trait Locus 18

Genes related to Bone Mineral Density Quantitative Trait Locus 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLS3	Plastin 3	Protein Coding	1379.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Proteins Variants (show sections)	24088043

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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

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Expression for Bone Mineral Density Quantitative Trait Locus 18

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

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Pathways for Bone Mineral Density Quantitative Trait Locus 18

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GO Terms for Bone Mineral Density Quantitative Trait Locus 18

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Sources for Bone Mineral Density Quantitative Trait Locus 18

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