Osteoporosis-pseudoglioma syndrome
| Disorder | |
|---|---|
| OMIM #: | #259770 (Click to access OMIM database) |
| Disorder: | Osteoporosis-pseudoglioma syndrome |
| Also known as: | OPS, OSTEOGENESIS IMPERFECTA, OCULAR FORM |
| Clinical | |
| Phenotype: | ossification abnormalities, psueodglioma, blindness, retinal detachment, joint hypermobility, osteoporosis, fractures, exudative vitreoretinopathy, microcephaly, ventricular septal defect |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesStreeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H. (2008) Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. Bone 43(3):584-90. PubMed ID: 18602879 Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Holmes Morton D, Puffenberger EG, Herskovitz R, Leonard MB. (2015) Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. Bone Apr 16;77:17-23. PubMed ID: 25892485 1 Old Order Mennonite |
|
| Gene: | LRP5 |
| Base Change: | A>G, at nucleotide 1225 |
| Amino Acid Change: | thr 409 --> ala |
| ReferencesStreeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H. (2008) Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. Bone 43(3):584-90. PubMed ID: 18602879 Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Holmes Morton D, Puffenberger EG, Herskovitz R, Leonard MB. (2015) Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. Bone Apr 16;77:17-23. PubMed ID: 25892485 2 Old Order Mennonite |
|
| Gene: | LRP5 |
| Base Change: | G>A, at nucleotide 1275 |
| Amino Acid Change: | trp 425 --> term |
| Last updated: | 2022-11-11 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Streeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H. (2008) Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. Bone 43(3):584-90. PubMed ID: 18602879 |
| Streeten EA, Ramirez S, Eliades M, Jaimungal S, Chandrasekaran S, Kathleen R, Holmes Morton D, Puffenberger EG, Herskovitz R, Leonard MB. (2015) Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure. Bone Apr 16;77:17-23. PubMed ID: 25892485 |
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