Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, decreased visual acuity, retinal detachment, multiple fractures after age 2, exudative vitreoretinopathy  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2015-10-23 

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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