LRP5 encodes LDL receptor related protein 5 (1,615 aa). Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Highest expression in Artery Aorta (83.2 TPM) and Artery Tibial (67.8 TPM).

Autosomal dominant osteosclerosis, Worth type is associated with mutations in the LRP5 gene on chromosome 11.

The LRP5 protein participates in LRP5 D666_L809del, Signaling by LRP5 mutants, and Negative regulation of TCF-dependent signaling by WNT ligand antagonists pathways.

LRP5 is classified as a druggable target with score 0.0.

Genetic testing for LRP5 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal dominant osteosclerosis, Worth type.

2 publications have been identified in PubMed for autosomal dominant osteosclerosis, Worth type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Beshay LH (2025). [PMID: 40585686](https://pubmed.ncbi.nlm.nih.gov/40585686/). *Cureus*. [Case Report / Case Series]

• Ren N (2024). [PMID: 38625381](https://pubmed.ncbi.nlm.nih.gov/38625381/). *Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA*. [Review / Meta-Analysis]