| H00451 | |
| H number | H00451 |
| Name | Osteoporosis-pseudoglioma syndrome |
| Description | Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG. |
| Category | Congenital malformation |
| Network | - |
| Gene | LRP5 [HSA:4041] [KO:K03068] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.KY ICD-10: Q87.5 MeSH: C536063 OMIM: 259770 |
| Reference | PMID:16252235 AUTHORS Ai M, Heeger S, Bartels CF, Schelling DK TITLE Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. JOURNAL Am J Hum Genet 77:741-53 (2005) DOI:10.1086/497706 PMID:15850991 AUTHORS Levasseur R, Lacombe D, de Vernejoul MC TITLE LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. JOURNAL Joint Bone Spine 72:207-14 (2005) DOI:10.1016/j.jbspin.2004.10.008 |