HBM
MCID: BNM016
MIFTS: 23

Bone Mineral Density Quantitative Trait Locus 1 (HBM)

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

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 1

MalaCards integrated aliases for Bone Mineral Density Quantitative Trait Locus 1:

Name: Bone Mineral Density Quantitative Trait Locus 1 58 30 6 41
High Bone Mass Trait 76
Bmnd1 58
Hbm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to osteoporosis-pseudoglioma syndrome , van buchem type 2 , autosomal dominant osteosclerosis , type i osteopetrosis


HPO:

33
bone mineral density quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601884
SNOMED-CT via HPO 70 263681008

Summaries for Bone Mineral Density Quantitative Trait Locus 1

UniProtKB/Swiss-Prot : 76 High bone mass trait: Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings.

MalaCards based summary : Bone Mineral Density Quantitative Trait Locus 1, also known as high bone mass trait, is related to heart and brain malformation syndrome and methemoglobinemia, beta-globin type. An important gene associated with Bone Mineral Density Quantitative Trait Locus 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone, prostate and brain, and related phenotypes are abnormality of the vertebral column and increased spinal bone density

Description from OMIM: 601884

Related Diseases for Bone Mineral Density Quantitative Trait Locus 1

Diseases in the Bone Mineral Density Quantitative Trait Locus 18 family:

Bone Mineral Density Quantitative Trait Locus 4 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 15 Bone Mineral Density Quantitative Trait Locus 16
Bone Mineral Density Quantitative Trait Locus 17

Diseases related to Bone Mineral Density Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 heart and brain malformation syndrome 11.7
2 methemoglobinemia, beta-globin type 10.2
3 porphyria, acute intermittent 10.0
4 premature chromatid separation trait 10.0
5 prostate cancer 10.0
6 prostate cancer, hereditary, 8 10.0
7 anxiety 10.0
8 prostate cancer, hereditary, 6 10.0
9 leukemia 10.0
10 lymphoma 10.0
11 porphyria 10.0
12 t-cell leukemia 10.0
13 depression 10.0
14 osteoporotic fracture 10.0
15 osteopetrosis, autosomal dominant 1 9.9

Graphical network of the top 20 diseases related to Bone Mineral Density Quantitative Trait Locus 1:



Diseases related to Bone Mineral Density Quantitative Trait Locus 1

Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 1

Human phenotypes related to Bone Mineral Density Quantitative Trait Locus 1:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column 33 HP:0000925
2 increased spinal bone density 33 HP:0004563

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
fracture resistance
dense bones with thick cortices
elevated bone mass

Skeletal Spine:
increased spinal bone density z(bmd)

Clinical features from OMIM:

601884

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Bone Mineral Density Quantitative Trait Locus 1

Genetic Tests for Bone Mineral Density Quantitative Trait Locus 1

Genetic tests related to Bone Mineral Density Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Bone Mineral Density Quantitative Trait Locus 1 30 LRP5

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 1

MalaCards organs/tissues related to Bone Mineral Density Quantitative Trait Locus 1:

42
Bone, Prostate, Brain, Heart, T Cells

Publications for Bone Mineral Density Quantitative Trait Locus 1

Articles related to Bone Mineral Density Quantitative Trait Locus 1:

# Title Authors Year
1
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. ( 14727154 )
2004
2
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. ( 11741193 )
2002

Variations for Bone Mineral Density Quantitative Trait Locus 1

UniProtKB/Swiss-Prot genetic disease variations for Bone Mineral Density Quantitative Trait Locus 1:

76
# Symbol AA change Variation ID SNP ID
1 LRP5 p.Gly171Val VAR_021809 rs121908668
2 LRP5 p.Arg154Met VAR_063944

ClinVar genetic disease variations for Bone Mineral Density Quantitative Trait Locus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
2 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
3 LRP5 NM_002335.3(LRP5): c.2220C> T (p.Asn740=) single nucleotide variant Benign rs2306862 GRCh37 Chromosome 11, 68177510: 68177510
4 LRP5 NM_002335.3(LRP5): c.2220C> T (p.Asn740=) single nucleotide variant Benign rs2306862 GRCh38 Chromosome 11, 68410042: 68410042
5 LRP5 NM_002335.3(LRP5): c.593A> G (p.Asn198Ser) single nucleotide variant Likely pathogenic rs1085307078 GRCh37 Chromosome 11, 68125222: 68125222
6 LRP5 NM_002335.3(LRP5): c.593A> G (p.Asn198Ser) single nucleotide variant Likely pathogenic rs1085307078 GRCh38 Chromosome 11, 68357754: 68357754
7 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh38 Chromosome 11, 68386499: 68386499
8 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh37 Chromosome 11, 68153967: 68153967

Expression for Bone Mineral Density Quantitative Trait Locus 1

Search GEO for disease gene expression data for Bone Mineral Density Quantitative Trait Locus 1.

Pathways for Bone Mineral Density Quantitative Trait Locus 1

GO Terms for Bone Mineral Density Quantitative Trait Locus 1

Sources for Bone Mineral Density Quantitative Trait Locus 1

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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