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BMND1
MCID: BNM016
MIFTS: 26

Bone Mineral Density Quantitative Trait Locus 1 (BMND1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 1

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

Name: Bone Mineral Density Quantitative Trait Locus 1 57 29 6 39
High Bone Mass Trait 72
Bmnd1 57
Hbm 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
bone mineral density quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 601884
SNOMED-CT via HPO 68 263681008
Sources

Summaries for Bone Mineral Density Quantitative Trait Locus 1

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UniProtKB/Swiss-Prot : 72 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 hemoglobin h disease and alcohol-induced mental disorder. 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

More information from OMIM: 601884
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Related Diseases for Bone Mineral Density Quantitative Trait Locus 1

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 10.9
2 alcohol-induced mental disorder 10.9
3 alcoholic psychosis 10.9
4 cyanosis, transient neonatal 10.2
5 heart and brain malformation syndrome 10.0
6 methemoglobinemia 10.0
7 osteopetrosis, autosomal dominant 1 10.0
8 stroke, ischemic 9.9
9 anxiety 9.9
10 beta-thalassemia 9.9
11 proteinuria, chronic benign 9.9
12 adult t-cell leukemia 9.9
13 sclerosteosis 9.9
14 beta-thalassemia major 9.9
15 cholesteatoma of middle ear 9.9
16 gestational diabetes 9.9
17 t-cell lymphoblastic leukemia/lymphoma 9.9
18 stomatitis 9.9
19 dentinogenesis imperfecta type 2 9.9
20 leukemia, t-cell, chronic 9.9
21 depression 9.9
22 neuroblastoma 1 9.8
23 multiple sclerosis 9.6

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
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Symptoms & Phenotypes for Bone Mineral Density Quantitative Trait Locus 1

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

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the vertebral column 31 HP:0000925
2 increased spinal bone density 31 HP:0004563

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
fracture resistance
dense bones with thick cortices
elevated bone mass

Skeletal Spine:
increased spinal bone density z(bmd)

Clinical features from OMIM®:

601884 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 1

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

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Genetic Tests for Bone Mineral Density Quantitative Trait Locus 1

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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
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Anatomical Context for Bone Mineral Density Quantitative Trait Locus 1

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

40
Bone, Brain, Heart
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Publications for Bone Mineral Density Quantitative Trait Locus 1

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Articles related to Bone Mineral Density Quantitative Trait Locus 1:

(show all 23)
# Title Authors PMID Year
1
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. 57 61 6
11741193 2002
2
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. 6 57
14727154 2004
3
High bone density due to a mutation in LDL-receptor-related protein 5. 57 6
12015390 2002
4
Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12-13? 57 61
11502804 2001
5
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. 6
17052975 2006
6
High-bone-mass disease and LRP5. 6
15141052 2004
7
Genetic determination of bone mineral density: evidence for a major gene. 57
12915644 2003
8
Ethnic variation in bone density in premenopausal and early perimenopausal women: effects of anthropometric and lifestyle factors. 57
12107201 2002
9
Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13. 57
9844108 1998
10
Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13) 57
9199553 1997
11
Searching for gene defects that cause high bone mass. 57
9199550 1997
12
Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. 57
8970884 1996
13
Vitamin D receptor genotype and bone mineral density. Evidence conflicts on link. 57
7580513 1995
14
Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. 57
7962559 1994
15
Prediction of bone density from vitamin D receptor alleles. 57
8161378 1994
16
[Wnt signaling molecules related to osteoporosis]. 61
23719498 2013
17
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 61
18292354 2008
18
Targeting the Wnt/beta-catenin pathway to regulate bone formation in the adult skeleton. 61
17395698 2007
19
Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling. 61
17276019 2007
20
[Wnt-beta-catenin signaling in bone metabolism]. 61
16397351 2006
21
The high bone mass family--the role of Wnt/Lrp5 signaling in the regulation of bone mass. 61
15615112 2004
22
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 61
14564212 2003
23
Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13. 61
12054167 2002
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Variations for Bone Mineral Density Quantitative Trait Locus 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.2220C>T (p.Asn740=) SNV Affects 193639 rs2306862 GRCh37: 11:68177510-68177510
GRCh38: 11:68410042-68410042
2 LRP5 NM_002335.4(LRP5):c.512G>T (p.Gly171Val) SNV Pathogenic 6280 rs121908668 GRCh37: 11:68125141-68125141
GRCh38: 11:68357673-68357673
3 LRP5 NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) SNV Likely pathogenic 225406 rs1085307078 GRCh37: 11:68125222-68125222
GRCh38: 11:68357754-68357754
4 LRP5 NM_002335.4(LRP5):c.592A>T (p.Asn198Tyr) SNV Likely pathogenic 438745 rs1555075567 GRCh37: 11:68125221-68125221
GRCh38: 11:68357753-68357753
5 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
6 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
7 LRP5 NM_002335.4(LRP5):c.913G>A (p.Gly305Ser) SNV Uncertain significance 1064518 rs377176311 GRCh37: 11:68133068-68133068
GRCh38: 11:68365600-68365600

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

72
# Symbol AA change Variation ID SNP ID
1 LRP5 p.Gly171Val VAR_021809 rs121908668
2 LRP5 p.Arg154Met VAR_063944

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Expression for Bone Mineral Density Quantitative Trait Locus 1

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

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GO Terms for Bone Mineral Density Quantitative Trait Locus 1

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Sources for Bone Mineral Density Quantitative Trait Locus 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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