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Opsismodysplasia

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Opsismodysplasia: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Opsismodysplasia: 7

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Oculocerebrorenal Syndrome (Lowe Syndrome)
3.	Muscular Dystrophies (Muscular Dystrophy)

Experts

1.	Erneux, Christophe: 3 articles (01/2020 - 01/2017)
2.	Azzi, Abdelhalim: 1 article (01/2020)
3.	Beck, Benjamin: 1 article (01/2020)
4.	Caers, Jo: 1 article (01/2020)
5.	Chevalier, Clément: 1 article (01/2020)
6.	Communi, David: 1 article (01/2020)
7.	Fafilek, Bohumil: 1 article (01/2020)
8.	Ghosh, Somadri: 1 article (01/2020)
9.	Heusschen, Roy: 1 article (01/2020)
10.	Krejci, Pavel: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Opsismodysplasia:

1.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/01/2020 - "Several human genetic diseases such as the Lowe syndrome, some congenital muscular dystrophy and opsismodysplasia are due to mutations in PI phosphatases, resulting in loss-of-function. " 10/01/2016 - "Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia." 01/01/2015 - "We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. " 06/01/2013 - "Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. " 01/10/2013 - "Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia."
2.	PolyphosphatesIBA 10/01/2016 - "Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia." 01/01/2015 - "We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. " 06/01/2013 - "Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. " 01/10/2013 - "Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia." 01/10/2013 - "We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. "
3.	Inositol (Myoinositol)IBA 10/01/2016 - "Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia." 01/01/2015 - "We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. " 06/01/2013 - "Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. " 01/10/2013 - "Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia." 01/10/2013 - "We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. "
4.	Phosphates (Orthophosphate)IBA 01/10/2013 - "Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. " 01/01/2015 - "Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy." 01/10/2013 - "We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. "
5.	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/01/2020 - "Altered chondrocyte differentiation, matrix mineralization and MEK-Erk1/2 signaling in an INPPL1 catalytic knock-out mouse model of opsismodysplasia."
6.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "SHIP2 has a confirmed role in opsismodysplasia, a disease of bone development, but also interacts with proteins involved in insulin signalling, cytoskeletal function (thus having an impact on endocytosis, adhesion, proliferation and apoptosis) and immune system function. "
7.	Insulin (Novolin)FDA Link 01/01/2017 - "SHIP2 has a confirmed role in opsismodysplasia, a disease of bone development, but also interacts with proteins involved in insulin signalling, cytoskeletal function (thus having an impact on endocytosis, adhesion, proliferation and apoptosis) and immune system function. "
8.	Diphosphonates (Bisphosphonates)IBA 01/01/2015 - "This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). " 01/01/2015 - "Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy."
9.	Pamidronate (Aredia)FDA LinkGeneric 01/01/2015 - "This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). "

Therapies and Procedures

1.	Therapeutics 01/01/2015 - "Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy."