HBM
MCID: BNM016
MIFTS: 22

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 57 29 6 40
High Bone Mass Trait 75
Bmnd1 57
Hbm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
bone mineral density quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601884
SNOMED-CT via HPO 69 263681008

Summaries for Bone Mineral Density Quantitative Trait Locus 1

UniProtKB/Swiss-Prot : 75 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 neuroblastoma. An important gene associated with Bone Mineral Density Quantitative Trait Locus 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone, brain and heart, 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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
fracture resistance
dense bones with thick cortices
elevated bone mass

Skeletal Spine:
increased spinal bone density z(bmd)


Clinical features from OMIM:

601884

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column 32 HP:0000925
2 increased spinal bone density 32 HP:0004563

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 29 LRP5

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 1

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

41
Bone, Brain, Heart, Prostate

Publications for Bone Mineral Density Quantitative Trait Locus 1

Articles related to Bone Mineral Density Quantitative Trait Locus 1:

# Title Authors Year
1
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:

75
# 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_002335.3(LRP5): c.2220C> T (p.Asn740=) single nucleotide variant Benign rs2306862 GRCh37 Chromosome 11, 68177510: 68177510
2 LRP5 NM_002335.3(LRP5): c.2220C> T (p.Asn740=) single nucleotide variant Benign rs2306862 GRCh38 Chromosome 11, 68410042: 68410042
3 LRP5 NM_002335.3(LRP5): c.593A> G (p.Asn198Ser) single nucleotide variant Likely pathogenic rs1085307078 GRCh37 Chromosome 11, 68125222: 68125222
4 LRP5 NM_002335.3(LRP5): c.593A> G (p.Asn198Ser) single nucleotide variant Likely pathogenic rs1085307078 GRCh38 Chromosome 11, 68357754: 68357754

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 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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