BMND16
MCID: BNM030
MIFTS: 29

Bone Mineral Density Quantitative Trait Locus 16 (BMND16)

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

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 16

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 16:

Name: Bone Mineral Density Quantitative Trait Locus 16 58 6 41
Osteoporosis, Early-Onset, Susceptibility to, Autosomal Dominant 58 13
Osteoporosis, Early-Onset, Susceptibility to 58
Osteoporosis, Early-Onset Autosomal Dominant 58
Osteoporosis, Early-Onset 58
Early Onset Osteoporosis 30
Bmnd16 58

Classifications:



External Ids:

OMIM 58 615221

Summaries for Bone Mineral Density Quantitative Trait Locus 16

MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 16, also known as osteoporosis, early-onset, susceptibility to, autosomal dominant, is related to osteoporosis and bone mineral density quantitative trait locus 8. An important gene associated with Bone Mineral Density Quantitative Trait Locus 16 is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and PI3K-Akt signaling pathway. Affiliated tissues include bone and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Description from OMIM: 615221

Related Diseases for Bone Mineral Density Quantitative Trait Locus 16

Graphical network of the top 20 diseases related to Bone Mineral Density Quantitative Trait Locus 16:



Diseases related to Bone Mineral Density Quantitative Trait Locus 16

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 16

Clinical features from OMIM:

615221

GenomeRNAi Phenotypes related to Bone Mineral Density Quantitative Trait Locus 16 according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.85 WNT1 WNT10B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.85 WNT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.85 WNT10B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.85 WNT10B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.85 WNT10B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.85 WNT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.85 WNT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.85 WNT10B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.85 WNT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.85 WNT1 WNT10B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.85 WNT10B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.85 WNT10B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.85 WNT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.85 WNT1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.85 WNT1

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 16

Search Clinical Trials , NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 16

Genetic Tests for Bone Mineral Density Quantitative Trait Locus 16

Genetic tests related to Bone Mineral Density Quantitative Trait Locus 16:

# Genetic test Affiliating Genes
1 Early Onset Osteoporosis 30

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 16

MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 16:

42
Bone, Liver

Publications for Bone Mineral Density Quantitative Trait Locus 16

Articles related to Bone Mineral Density Quantitative Trait Locus 16:

# Title Authors Year
1
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. ( 29946973 )
2018
2
A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid. ( 28620780 )
2017
3
CRTAP variants in early-onset osteoporosis and recurrent fractures. ( 27901313 )
2017
4
Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study. ( 27732335 )
2017
5
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. ( 26578240 )
2015
6
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. ( 23656646 )
2013
7
Mutations in WNT1 cause different forms of bone fragility. ( 23499309 )
2013
8
osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. ( 9573043 )
1998

Variations for Bone Mineral Density Quantitative Trait Locus 16

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT1 NM_005430.3(WNT1): c.859dupC (p.His287Profs) duplication Pathogenic,risk factor rs387907353 GRCh37 Chromosome 12, 49375169: 49375169
2 WNT1 NM_005430.3(WNT1): c.859dupC (p.His287Profs) duplication Pathogenic,risk factor rs387907353 GRCh38 Chromosome 12, 48981386: 48981386
3 WNT1 NM_005430.3(WNT1): c.703C> T (p.Arg235Trp) single nucleotide variant risk factor rs387907359 GRCh37 Chromosome 12, 49375013: 49375013
4 WNT1 NM_005430.3(WNT1): c.703C> T (p.Arg235Trp) single nucleotide variant risk factor rs387907359 GRCh38 Chromosome 12, 48981230: 48981230
5 WNT1 NM_005430.3(WNT1): c.652T> G (p.Cys218Gly) single nucleotide variant risk factor rs397514702 GRCh37 Chromosome 12, 49374962: 49374962
6 WNT1 NM_005430.3(WNT1): c.652T> G (p.Cys218Gly) single nucleotide variant risk factor rs397514702 GRCh38 Chromosome 12, 48981179: 48981179

Expression for Bone Mineral Density Quantitative Trait Locus 16

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 16.

Pathways for Bone Mineral Density Quantitative Trait Locus 16

Pathways related to Bone Mineral Density Quantitative Trait Locus 16 according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 WNT1 WNT10B
2
Show member pathways
12.44 WNT1 WNT10B
3
Show member pathways
12.37 WNT1 WNT10B
4
Show member pathways
12.35 WNT1 WNT10B
5 12.31 WNT1 WNT10B
6
Show member pathways
12.24 WNT1 WNT10B
7
Show member pathways
12.01 WNT1 WNT10B
8
Show member pathways
11.98 WNT1 WNT10B
9 11.92 WNT1 WNT10B
10
Show member pathways
11.89 WNT1 WNT10B
11
Show member pathways
11.89 WNT1 WNT10B
12 11.85 WNT1 WNT10B
13
Show member pathways
11.81 WNT1 WNT10B
14 11.78 WNT1 WNT10B
15 11.67 WNT1 WNT10B
16 11.62 WNT1 WNT10B
17
Show member pathways
11.53 WNT1 WNT10B
18
Show member pathways
11.5 WNT1 WNT10B
19 11.47 WNT1 WNT10B
20 11.4 WNT1 WNT10B
21 11.28 WNT1 WNT10B
22 11.02 WNT1 WNT10B
23
Show member pathways
10.36 WNT1 WNT10B

GO Terms for Bone Mineral Density Quantitative Trait Locus 16

Biological processes related to Bone Mineral Density Quantitative Trait Locus 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.46 WNT1 WNT10B
2 regulation of signaling receptor activity GO:0010469 9.43 WNT1 WNT10B
3 Wnt signaling pathway GO:0016055 9.4 WNT1 WNT10B
4 neuron differentiation GO:0030182 9.37 WNT1 WNT10B
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.32 WNT1 WNT10B
6 canonical Wnt signaling pathway GO:0060070 9.26 WNT1 WNT10B
7 cell fate commitment GO:0045165 9.16 WNT1 WNT10B
8 negative regulation of fat cell differentiation GO:0045599 8.96 WNT1 WNT10B
9 hematopoietic stem cell proliferation GO:0071425 8.62 WNT1 WNT10B

Molecular functions related to Bone Mineral Density Quantitative Trait Locus 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.16 WNT1 WNT10B
2 frizzled binding GO:0005109 8.96 WNT1 WNT10B
3 receptor ligand activity GO:0048018 8.62 WNT1 WNT10B

Sources for Bone Mineral Density Quantitative Trait Locus 16

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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