MCID: LRP007
MIFTS: 9

Lrp5-Related Primary Osteoporosis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Lrp5-Related Primary Osteoporosis

MalaCards integrated aliases for Lrp5-Related Primary Osteoporosis:

Name: Lrp5-Related Primary Osteoporosis 58 5

Characteristics:


Age Of Onset:

Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA498481

Summaries for Lrp5-Related Primary Osteoporosis

Orphanet: 58 A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.

MalaCards based summary: Lrp5-Related Primary Osteoporosis An important gene associated with Lrp5-Related Primary Osteoporosis is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone.

Related Diseases for Lrp5-Related Primary Osteoporosis

Diseases in the Osteoporosis family:

Osteoporosis, Juvenile Juvenile Primary Osteoporosis
Lrp5-Related Primary Osteoporosis

Symptoms & Phenotypes for Lrp5-Related Primary Osteoporosis

Drugs & Therapeutics for Lrp5-Related Primary Osteoporosis

Search Clinical Trials, NIH Clinical Center for Lrp5-Related Primary Osteoporosis

Genetic Tests for Lrp5-Related Primary Osteoporosis

Anatomical Context for Lrp5-Related Primary Osteoporosis

Organs/tissues related to Lrp5-Related Primary Osteoporosis:

MalaCards : Bone

Publications for Lrp5-Related Primary Osteoporosis

Articles related to Lrp5-Related Primary Osteoporosis:

# Title Authors PMID Year
1
Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate Genes. 62
33957005 2021

Variations for Lrp5-Related Primary Osteoporosis

ClinVar genetic disease variations for Lrp5-Related Primary Osteoporosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.4349-8C>A SNV Not Provided
1339809 GRCh37: 11:68207237-68207237
GRCh38: 11:68439769-68439769

Expression for Lrp5-Related Primary Osteoporosis

Search GEO for disease gene expression data for Lrp5-Related Primary Osteoporosis.

Pathways for Lrp5-Related Primary Osteoporosis

GO Terms for Lrp5-Related Primary Osteoporosis

Sources for Lrp5-Related Primary Osteoporosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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