eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lowe syndrome |
| Comorbidity | C0878681|dent\'s disease |
| Sentences | 2 |
| PubMedID- 23235953 | Metabolic acidosis can be found in those patients with dent's disease due to ocrl gene mutations, and therefore should be considered in the differential diagnosis of proximal rta, whereas those with clcn5 mutations commonly do not develop metabolic acidosis. |
| PubMedID- 20946626 | All of the ocrl1 missense mutations associated with dent's disease occur in the 5' region of the gene (exons 4 to 15) and involve the phosphatidylinositol phosphate 5-phosphatase domain of the ocrl1 protein, whilst the truncating mutations are in the first seven exons or intron 7. |
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