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osteoporosis-pseudoglioma syndrome
Summary
- Synonym
-
- OPPG
- ocular form of osteogenesis imperfecta
- Definition
- A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15357 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 |
