BMND18
MCID: BNM015
MIFTS: 28

Bone Mineral Density Quantitative Trait Locus 18 (BMND18)

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
ICD10 via Orphanet 34 M80.5
Orphanet 59 ORPHA391330
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 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 MK-5172 and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and breast, 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 18)
# 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 10.2
7 col1a1/2-related osteogenesis imperfecta 10.2
8 hyperparathyroidism 10.2
9 osteogenesis imperfecta, type i 10.1
10 celiac disease 1 10.1
11 bone mineral density quantitative trait locus 3 10.1
12 inflammatory bowel disease 10.1
13 sclerosteosis 10.1
14 bone disease 10.1
15 primary hyperparathyroidism 10.1
16 alcohol use disorder 10.1
17 hyperthyroidism 10.1
18 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

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 18

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

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

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 18

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 MK-5172 Phase 4
2 Anti-Infective Agents Phase 4
3 Elbasvir-grazoprevir drug combination Phase 4
4 Antiviral Agents 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

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, Breast

Publications for Bone Mineral Density Quantitative Trait Locus 18

Articles related to Bone Mineral Density Quantitative Trait Locus 18:

# Title Authors PMID Year
1
PLS3 mutations in X-linked osteoporosis with fractures. 8 71
24088043 2013
2
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18. 38
30405713 2018

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 GRCh37 Pos GRCh38 Pos
1 PLS3 NM_005032.7(PLS3): c.235del (p.Tyr79fs) deletion association rs397518463 X:114856719-114856719 X:115622407-115622407
2 PLS3 NM_005032.7(PLS3): c.1471C> T (p.Gln491Ter) single nucleotide variant association rs397518421 X:114880815-114880815 X:115646495-115646495
3 HTR2C ; IL13RA2 ; LRCH2 ; LUZP4 ; MIR448 ; PLS3 ; RBMXL3 NC_000023.10 deletion Pathogenic X:113050826-114941807 :0-0
4 HTR2C ; IL13RA2 ; LRCH2 ; LUZP4 ; MIR448 ; PLS3 ; RBMXL3 GRCh37/hg19 Xq23(chrX: 113097589-114931342) copy number loss Pathogenic X:113097589-114931342 :0-0
5 PLS3 NM_005032.7(PLS3): c.256del (p.Ser86fs) deletion Pathogenic rs1135402748 X:114863528-114863528 X:115629216-115629216
6 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1050829 X:153763492-153763492 X:154535277-154535277
7 PLS3 NM_005032.7(PLS3): c.321T> A (p.Gly107=) single nucleotide variant Benign rs140121121 X:114863593-114863593 X:115629281-115629281

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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