Bone Mineral Density Quantitative Trait Locus 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 601884

MedGen ⁴³ C1866079 C1866080

SNOMED-CT via HPO ⁷⁰ 263681008

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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

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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
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:

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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

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Drugs & Therapeutics for Bone Mineral Density Quantitative Trait Locus 1

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

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

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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

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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 )	Mizuguchi T...Yoshiura K	2004
2	A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. ( 11741193 )	Little RD...Johnson ML	2002

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Genes for Bone Mineral Density Quantitative Trait Locus 1

Genes related to Bone Mineral Density Quantitative Trait Locus 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LRP5	LDL Receptor Related Protein 5	Protein Coding	978.51	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ GeneCards inferred via : Proteins Variants (show sections)

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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

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Expression for Bone Mineral Density Quantitative Trait Locus 1

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bone Mineral Density Quantitative Trait Locus 1 (HBM)

Aliases & Classifications for Bone Mineral Density Quantitative Trait Locus 1

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bone Mineral Density Quantitative Trait Locus 1

Related Diseases for Bone Mineral Density Quantitative Trait Locus 1

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

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Bone Mineral Density Quantitative Trait Locus 1

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

Publications for Bone Mineral Density Quantitative Trait Locus 1

Articles related to Bone Mineral Density Quantitative Trait Locus 1:

Genes for Bone Mineral Density Quantitative Trait Locus 1

Genes related to Bone Mineral Density Quantitative Trait Locus 1 (1 elite genes):

Variations for Bone Mineral Density Quantitative Trait Locus 1

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

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

Expression 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