eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | osteopathia striata with cranial sclerosis |
| Comorbidity | C0005940|osteopathia |
| Sentences | 10 |
| PubMedID- 20843316 | Recent analysis suggests that wtx may also play an important function during normal development: expression analysis demonstrated a dynamic expression pattern throughout embryogenesis [6] and mutations have been identified in patients suffering from a range of developmental defects including osteopathia striata congenita with cranial sclerosis (oscs) and cardiac anomalies [7]. |
| PubMedID- 22716240 | osteopathia striata with cranial sclerosis (os-cs; omim#300373) is a rare, x-linked dominant inherited skeletal dysplasia (prevalence 0.1/1 million people [1]), part of sclerosing bone dysplasias [2-4], a group of disorders characterized by abnormally dense bones as a result of the prevalence of bone formation by osteoblasts over bone reabsorption by osteoclasts. |
| PubMedID- 23401208 | osteopathia striata with cranial sclerosis (oscs) is caused by truncating mutations or deletions in the x linked gene, wtx, and is characterized by sclerotic striations of the metaphyses and diaphyses of long bones, pelvis, and scapula, along with craniofacial hyperostosis. |
| PubMedID- 22670894 | osteopathia striata congenita with cranial sclerosis (oscs) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the x-linked gene wtx (fam123b, amer1). |
| PubMedID- 23524727 | osteopathia striata with cranial sclerosis (oscs) is a rare x-linked skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extraskeletal anomalies. |
| PubMedID- 22987541 | osteopathia striata with cranial sclerosis (oscs) is an x-linked disease caused by mutations involving wtx (fam123b), a tumor suppressor protein with dual functions. |
| PubMedID- 20209645 | osteopathia striata with cranial sclerosis (oscs) is an x-linked dominant condition marked by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in combination with cranial sclerosis. |
| PubMedID- 22043478 | osteopathia striata with cranial sclerosis (oscs) is an x-linked disease caused by truncating mutations in wtx. |
| PubMedID- 20679664 | Germline mutations in the same gene cause the sclerosing skeletal dysplasia, osteopathia striata congenita with cranial sclerosis (oscs). |
| PubMedID- 24459086 | osteopathia striata with cranial sclerosis (oscs) is an x-linked dominant sclerosing bone dysplasia. |
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