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BMND18
MCID: BNM015
MIFTS: 29

Bone Mineral Density Quantitative Trait Locus 18 (BMND18)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 18

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

Name: Bone Mineral Density Quantitative Trait Locus 18 56 29 6 39
Bone Mineral Density Qtl18, Osteoporosis 56 29
Osteoporosis and Osteoporotic Fractures, Susceptibility to 56
Osteoporosis and Osteoporotic Fractures 56
X-Linked Osteoporosis with Fractures 58
Bmnd18 56

Characteristics:

Orphanet epidemiological data:

58
x-linked osteoporosis with fractures
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
x-linked dominant

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


HPO:

31
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: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300910
ICD10 via Orphanet 33 M80.5
Orphanet 58 ORPHA391330
MedGen 41 C3806712
Sources

Summaries for Bone Mineral Density Quantitative Trait Locus 18

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MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 18, also known as bone mineral density qtl18, osteoporosis, is related to osteoporosis and bone mineral density quantitative trait locus 8. An important gene associated with Bone Mineral Density Quantitative Trait Locus 18 is PLS3 (Plastin 3). The drugs Antiviral Agents and MK-5172 have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and spinal cord, and related phenotypes are osteopenia and osteoporosis

More information from OMIM: 300910
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Related Diseases for Bone Mineral Density Quantitative Trait Locus 18

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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 17)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 10.8
2 bone mineral density quantitative trait locus 8 10.8
3 bone mineral density quantitative trait locus 15 10.8
4 hypogonadism 10.3
5 hypogonadotropism 10.3
6 brittle bone disorder 10.3
7 hyperparathyroidism 10.2
8 osteogenesis imperfecta, type i 10.1
9 celiac disease 1 10.1
10 bone mineral density quantitative trait locus 3 10.1
11 inflammatory bowel disease 10.1
12 sclerosteosis 10.1
13 bone disease 10.1
14 primary hyperparathyroidism 10.1
15 alcohol use disorder 10.1
16 hyperthyroidism 10.1
17 spinal cord injury 10.1

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
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Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 18

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

31
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 osteoporosis 31 HP:0000939
3 vertebral compression fractures 31 HP:0002953

Symptoms via clinical synopsis from OMIM:

56
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
Sources

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 18

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Drugs for Bone Mineral Density Quantitative Trait Locus 18 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antiviral Agents Phase 4
2 MK-5172 Phase 4
3 Anti-Infective Agents Phase 4
4 Elbasvir-grazoprevir drug combination Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of HCV Therapy on Cardiovascular Risk and Bone Health Terminated NCT03221582 Phase 4 EBR/GZR
2 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

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Genetic Tests for Bone Mineral Density Quantitative Trait Locus 18

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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

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

40
Bone, Breast, Spinal Cord
Sources

Publications for Bone Mineral Density Quantitative Trait Locus 18

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Articles related to Bone Mineral Density Quantitative Trait Locus 18:

# Title Authors PMID Year
1
PLS3 mutations in X-linked osteoporosis with fractures. 56 6
24088043 2013
2
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18. 61
30405713 2018
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Variations for Bone Mineral Density Quantitative Trait Locus 18

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLS3 NM_005032.7(PLS3):c.235del (p.Tyr79fs)deletion association 88700 rs397518463 X:114856717-114856717 X:115622405-115622405
2 PLS3 NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter)SNV association 88701 rs397518421 X:114880815-114880815 X:115646495-115646495
3 HTR2C , IL13RA2 , LRCH2 , LUZP4 , MIR448 , PLS3 , RBMXL3 NC_000023.10:g.(113050826_113097589)_(114931342_114941807)deldeletion Pathogenic 209215 X:113050826-114941807
4 PLS3 NM_005032.7(PLS3):c.256del (p.Ser86fs)deletion Pathogenic 431450 rs1135402748 X:114863524-114863524 X:115629212-115629212
5 HTR2C , IL13RA2 , LRCH2 , LUZP4 , MIR448 , PLS3 , RBMXL3 GRCh37/hg19 Xq23(chrX:113097589-114931342)copy number loss Pathogenic 625796 X:113097589-114931342
6 PLS3 NM_005032.7(PLS3):c.514del (p.Leu172fs)deletion Likely pathogenic 804077 X:114868324-114868324 X:115634012-115634012
7 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)SNV Conflicting interpretations of pathogenicity 100055 rs1050829 X:153763492-153763492 X:154535277-154535277
8 PLS3 NM_005032.7(PLS3):c.321T>A (p.Gly107=)SNV Benign 88702 rs140121121 X:114863593-114863593 X:115629281-115629281
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Expression for Bone Mineral Density Quantitative Trait Locus 18

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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