eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lowe syndrome |
| Comorbidity | C0028860|oculocerebrorenal syndrome |
| Sentences | 6 |
| PubMedID- 24499450 | Two related disorders, oculocerebrorenal syndrome of lowe (ocrl) and dent-2 disease, are caused by mutation of the inositol 5-phosphatase ocrl1. |
| PubMedID- 21645192 | This disease is caused by mutations in oculocerebrorenal syndrome of lowe (ocrl), inositol 5-phosphatase (62) which preferentially acts on pi(4,5)p2 and phosphatidylinositol 3,4,5-trisphosphate [pi(3,4,5)p3]. |
| PubMedID- 20043897 | Objectives: to develop and evaluate the efficacy of multiplex ligation-dependent probe amplification (mlpa) technique in detection of genomic rearrangements of the ocrl1 gene associated with oculocerebrorenal syndrome of lowe (ocrl). |
| PubMedID- 20936522 | A few patients have mutations in ocrl1, the gene associated with the oculocerebrorenal syndrome of lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (ocrl1). |
| PubMedID- 24267514 | Bicaudal d1 (rab 6 interactor), oculocerebrorenal syndrome of lowe (ocrl1, interacts with multiple rabs) and rab11 family interacting protein 2 (rab11fip2, rab11 and 14 interactor) [92-94]. |
| PubMedID- 21448331 | The oculocerebrorenal syndrome of lowe (ocrl) was first recognized as a distinct disease in 1952 by lowe et al (1). |
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