BMND16
MCID: BNM030
MIFTS: 22

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 56 29 6 39
Osteoporosis, Early-Onset, Susceptibility to, Autosomal Dominant 56 13
Osteoporosis, Early-Onset, Susceptibility to 56
Osteoporosis, Early-Onset Autosomal Dominant 56
Osteoporosis, Early-Onset 56
Early Onset Osteoporosis 29
Bmnd16 56

Classifications:



External Ids:

OMIM 56 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). The drugs Vitamin D and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and liver.

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 18)
# 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 arterial calcification, generalized, of infancy, 1 9.8
6 osteoporosis, juvenile 9.8
7 hypophosphatemic rickets, x-linked recessive 9.8
8 bone mineral density quantitative trait locus 3 9.8
9 hypophosphatemic rickets, autosomal recessive, 2 9.8
10 osteogenesis imperfecta, type xv 9.8
11 hypophosphatemia 9.8
12 arterial calcification of infancy 9.8
13 autosomal recessive hypophosphatemic rickets 9.8
14 osteomalacia 9.8
15 rickets 9.8
16 neuroblastoma 9.8
17 splenomegaly 9.8
18 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 Calcium, Dietary
5 Calciferol

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
2 Bone Mineral Density Quantitative Trait Locus 16 29 WNT1

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 16

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

40
Bone, Spinal Cord, Liver

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. 56 6
23656646 2013
2
Mutations in WNT1 cause different forms of bone fragility. 56 6
23499309 2013
3
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs)duplication Pathogenic,risk factor 50257 rs387907353 12:49375163-49375164 12:48981380-48981381
2 WNT1 NM_005430.4(WNT1):c.703C>T (p.Arg235Trp)SNV risk factor 50263 rs387907359 12:49375013-49375013 12:48981230-48981230
3 WNT1 NM_005430.4(WNT1):c.652T>G (p.Cys218Gly)SNV risk factor 50926 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

GO Terms for Bone Mineral Density Quantitative Trait Locus 16

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 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
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