Features include always present findings: Blindness and Increased susceptibility to fractures; and very common findings: Weak and brittle bones (osteoporosis), Recurrent fractures, and Congenital blindness. 57 total HPO annotations.

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).

Osteoporosis-pseudoglioma syndrome 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: 2 always present features, 3 very common features, 12 common features.

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

No clinical trials have been registered for osteoporosis-pseudoglioma syndrome.

12 publications have been identified in PubMed for osteoporosis-pseudoglioma syndrome. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (18%).