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GTR Home > Conditions/Phenotypes > Osteoporosis with pseudoglioma

Osteoporosis with pseudoglioma

Synonyms
Osteogenesis imperfecta ocular form; Osteoporosis Pseudoglioma Syndrome; Pseudoglioma with bone fragility
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder characterized by severe osteoporosis and visual disturbance from childhood. Juvenile onset of osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. Congenital or early-onset visual disturbances arise from ophthalmologic problems including retinal detachment and microphthalmia (summary by Narumi et al., 2010). [from OMIM]

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2, LRP5
    Summary: LDL receptor related protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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