BMND16
MCID: BNM030
MIFTS: 30

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 57 6 40
Osteoporosis, Early-Onset, Susceptibility to, Autosomal Dominant 57 13
Osteoporosis, Early-Onset, Susceptibility to 57
Osteoporosis, Early-Onset Autosomal Dominant 57
Osteoporosis, Early-Onset 57
Early Onset Osteoporosis 29
Bmnd16 57

Classifications:



External Ids:

OMIM 57 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. The drugs Vitamin D and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord.

More information from OMIM: 615221

Related Diseases for Bone Mineral Density Quantitative Trait Locus 16

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 10.3
2 bone mineral density quantitative trait locus 8 10.3
3 bone mineral density quantitative trait locus 15 10.3
4 brittle bone disorder 10.0
5 col1a1/2-related osteogenesis imperfecta 10.0
6 hypogonadism 9.9
7 hypogonadotropism 9.9
8 arterial calcification, generalized, of infancy, 1 9.8
9 neuroblastoma 1 9.8
10 osteoporosis, juvenile 9.8
11 bone mineral density quantitative trait locus 3 9.8
12 osteogenesis imperfecta, type xv 9.8
13 splenomegaly 9.8
14 acute liver failure 9.8

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

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 16

Drugs for Bone Mineral Density Quantitative Trait Locus 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Vitamins
4 Calciferol
5 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hands-Up Program: Protocol for a Feasibility Study of a Combined Exercise and Education Randomized Controlled Trial of a 6-week Intervention in People With a Distal Radius Fracture Not yet recruiting NCT03997682

Search 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 29

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 16

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

41
Bone, Spinal Cord

Publications for Bone Mineral Density Quantitative Trait Locus 16

Articles related to Bone Mineral Density Quantitative Trait Locus 16:

# Title Authors PMID Year
1
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. 8 71
23656646 2013
2
Mutations in WNT1 cause different forms of bone fragility. 8 71
23499309 2013
3
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. 38
28777128 2017

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 GRCh37 Pos GRCh38 Pos
1 WNT1 NM_005430.4(WNT1): c.859dup (p.His287fs) duplication Pathogenic,risk factor rs387907353 12:49375169-49375169 12:48981386-48981386
2 WNT1 NM_005430.4(WNT1): c.703C> T (p.Arg235Trp) single nucleotide variant risk factor rs387907359 12:49375013-49375013 12:48981230-48981230
3 WNT1 NM_005430.4(WNT1): c.652T> G (p.Cys218Gly) single nucleotide variant risk factor rs397514702 12:49374962-49374962 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 WNT10B WNT1
2
Show member pathways
12.44 WNT10B WNT1
3
Show member pathways
12.37 WNT10B WNT1
4
Show member pathways
12.35 WNT10B WNT1
5 12.31 WNT10B WNT1
6
Show member pathways
12.24 WNT10B WNT1
7
Show member pathways
12.01 WNT10B WNT1
8
Show member pathways
11.98 WNT10B WNT1
9 11.92 WNT10B WNT1
10
Show member pathways
11.9 WNT10B WNT1
11
Show member pathways
11.89 WNT10B WNT1
12 11.85 WNT10B WNT1
13
Show member pathways
11.81 WNT10B WNT1
14 11.79 WNT10B WNT1
15 11.67 WNT10B WNT1
16 11.62 WNT10B WNT1
17
Show member pathways
11.53 WNT10B WNT1
18
Show member pathways
11.5 WNT10B WNT1
19 11.47 WNT10B WNT1
20 11.4 WNT10B WNT1
21 11.28 WNT10B WNT1
22 11.02 WNT10B WNT1
23
Show member pathways
10.36 WNT10B WNT1

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 9.43 WNT10B WNT1
2 Wnt signaling pathway GO:0016055 9.4 WNT10B WNT1
3 neuron differentiation GO:0030182 9.37 WNT10B WNT1
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.32 WNT10B WNT1
5 canonical Wnt signaling pathway GO:0060070 9.26 WNT10B WNT1
6 cell fate commitment GO:0045165 9.16 WNT10B WNT1
7 negative regulation of fat cell differentiation GO:0045599 8.96 WNT10B WNT1
8 hematopoietic stem cell proliferation GO:0071425 8.62 WNT10B WNT1

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 WNT10B WNT1
2 frizzled binding GO:0005109 8.96 WNT10B WNT1
3 receptor ligand activity GO:0048018 8.62 WNT10B WNT1

Sources for Bone Mineral Density Quantitative Trait Locus 16

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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