MCID: BNM030
MIFTS: 19

Bone Mineral Density Quantitative Trait Locus 16

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 brittle bone disorder. An important gene associated with Bone Mineral Density Quantitative Trait Locus 16 is WNT1 (Wnt Family Member 1). Affiliated tissues include bone and liver.

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

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 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, 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
Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study. ( 27732335 )
2017
3
CRTAP variants in early-onset osteoporosis and recurrent fractures. ( 27901313 )
2017
4
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
5
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. ( 23656646 )
2013
6
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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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