Osteoporosis-pseudoglioma syndrome

A congenital syndrome characterized by short stature, childhood-onset osteoporosis; MICROCEPHALY; severe ocular defects including blindness, MICROPHTHALMIA; pseudoglioma (intraocular opacity mimicking retinoblastoma), and intraocular calcification. Some patients may also have VENTRICULAR SEPTAL DEFECTS and neurologic symptoms. It is caused by mutations in the LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP5) gene. OMIM: 259770

Also Known As:

Networked: 36 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Osteoporosis
2.	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
3.	Osteopetrosis
4.	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)
5.	Metaphyseal chondrodysplasia Schmid type

Experts

1.	Van Hul, Wim: 3 articles (07/2013 - 03/2003)
2.	Ai, Minrong: 3 articles (04/2009 - 11/2005)
3.	Warman, Matthew L: 3 articles (04/2009 - 03/2003)
4.	Kayserili, Hülya: 2 articles (01/2022 - 04/2009)
5.	Wollnik, Bernd: 2 articles (01/2022 - 04/2009)
6.	Streeten, Elizabeth A: 2 articles (08/2015 - 09/2008)
7.	Ralston, Stuart H: 2 articles (04/2015 - 06/2002)
8.	Cole, William G: 2 articles (04/2010 - 05/2005)
9.	Mäkitie, Outi: 2 articles (04/2010 - 05/2005)
10.	Bartels, Cynthia F: 2 articles (04/2009 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Osteoporosis-pseudoglioma syndrome:

1.	Diphosphonates (Bisphosphonates)IBA 08/01/2015 - "Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure." 01/01/2012 - "Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment." 09/01/2008 - "Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates." 07/01/2022 - "This study describes the clinical, radiological, and molecular data of four new patients with osteoporosis-pseudoglioma syndrome and assesses their response to bisphosphonate therapy. " 07/01/2022 - "Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy."
2.	Lithium Carbonate (Eskalith)FDA LinkGeneric 12/30/2019 - "Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid type), Lithium carbonate and anti-sclerostin therapy for Osteoporosis Pseudoglioma syndrome and novel therapies for Osteopetrosis. "
3.	Carbamazepine (Tegretol)FDA LinkGeneric 12/30/2019 - "Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid type), Lithium carbonate and anti-sclerostin therapy for Osteoporosis Pseudoglioma syndrome and novel therapies for Osteopetrosis. "
4.	PalovaroteneIBA 12/30/2019 - "Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid type), Lithium carbonate and anti-sclerostin therapy for Osteoporosis Pseudoglioma syndrome and novel therapies for Osteopetrosis. "
5.	burosumabIBA 12/30/2019 - "Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid type), Lithium carbonate and anti-sclerostin therapy for Osteoporosis Pseudoglioma syndrome and novel therapies for Osteopetrosis. "
6.	Low Density Lipoprotein Receptor-Related Protein-5IBA 01/01/2017 - "The Wnt pathway was found to be involved in bone biology in 2001-2002 with the discovery of a (G171V) mutation in the lipoprotein receptor-related protein 5 (LRP5) that resulted in high bone mass and another mutation that completely inactivated Lrp5 function and resulted in osteoporosis pseudoglioma syndrome (OPPG). " 04/01/2010 - "Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) underlie osteoporosis-pseudoglioma syndrome. " 06/01/2008 - "Low-density lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor, plays an important role in bone metabolism as loss-of-function and gain-of-function mutations in LRP5 result in the autosomal recessive osteoporosis-pseudoglioma syndrome and autosomal dominant high-bone mass (HBM) phenotypes, respectively. " 09/01/2006 - "Osteoporosis pseudoglioma syndrome (OPPG) is an autosomal recessive disorder due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. " 11/01/2005 - "Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). "
7.	Pamidronate (Aredia)FDA LinkGeneric 11/01/2006 - "Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome." 03/01/2006 - "Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG)." 08/01/2008 - "Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation." 03/01/2006 - "We present a 21 year-old woman with osteoporosis-pseudoglioma syndrome (OPPG) suffering from bone pain and frequent long bone fractures (approximately 1 or 2 fractures/year) who was treated with i.v. pamidronate for 3 years. " 09/01/2000 - "Three children (ages 9 to 11 years) with osteoporosis pseudoglioma syndrome who had multiple vertebral collapse were treated over a 2-year period with intermittent intravenous bisphosphonate infusions (pamidronate in 2, clodronate in 1). "
8.	CateninsIBA 07/01/2013 - "Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signaling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. " 01/01/2020 - "Its association with congenital retinal folds should guide the diagnosis to the Osteoporosis-Pseudoglioma syndrome (OMIM 259770), a rare disease (prevalence of 1/2 000 000), caused by the loss of function of the protein LRP5 (low-density lipoprotein receptor-related protein 5) resulting in the alteration of the Wnt/β-catenin signalling pathway. "
9.	Low Density Lipoprotein Receptor-Related Protein-1 (LDL-Receptor Related Protein)IBA 06/01/2004 - "Recently, It has been reported that the LDL receptor-related protein 5 (LRP5) regulates bone formation, and that mutations of the gene cause osteoporosis-pseudoglioma syndrome or high bone mass phenotypes. " 03/01/2003 - "The LDL receptor-related protein 5 (LRP5) gene has been shown to be involved in both osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype and turned out to be an important regulator of peak bone mass in vertebrates. "
10.	Retinaldehyde (Retinal)IBA 10/01/1999 - "Human FGF-19 maps to chromosome 11 q13.1, a region associated with an osteoporosis-pseudoglioma syndrome of skeletal and retinal defects. " 01/01/2020 - "Its association with congenital retinal folds should guide the diagnosis to the Osteoporosis-Pseudoglioma syndrome (OMIM 259770), a rare disease (prevalence of 1/2 000 000), caused by the loss of function of the protein LRP5 (low-density lipoprotein receptor-related protein 5) resulting in the alteration of the Wnt/β-catenin signalling pathway. "

Therapies and Procedures

1.

Therapeutics 07/01/2022 - "This study describes the clinical, radiological, and molecular data of four new patients with osteoporosis-pseudoglioma syndrome and assesses their response to bisphosphonate therapy. " 07/01/2022 - "Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy." 08/15/2017 - "Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome." 01/01/2017 - "Loss of function of Sost or treatment with a Sclerostin neutralizing antibody improves bone properties in animal models of Osteoporosis Pseudoglioma syndrome (OPPG), likely due to action through the LRP6 receptor, which suggests patients may benefit from these therapies. " 08/01/2008 - "Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation."