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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 601884

MedGen ⁴² C1866079 C1866080

SNOMED-CT via HPO ⁶⁹ 263681008

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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

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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:

#	Related Disease	Score
1	heart and brain malformation syndrome	11.6
2	neuroblastoma	10.4
3	porphyria, acute intermittent	10.0
4	premature chromatid separation trait	10.0
5	prostate cancer	10.0
6	anxiety	10.0
7	porphyria	10.0
8	depression	10.0
9	osteoporotic fracture	10.0

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

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

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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 ²⁹	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:

⁴¹

Bone, Brain, Heart, Prostate

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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	A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. ( 11741193 )	LITTLE R.D....Johnson M.L.	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	978.52	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ 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:

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

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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

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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