| H00694 | |
| H number | H00694 |
| Name | Dent disease |
| Description | Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome. |
| Category | Urinary system disease |
| Network | - |
| Gene | (DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB90.4Y ICD-10: N25.8 MeSH: D057973 OMIM: 300009 300555 |
| Reference | PMID:20946626 AUTHORS Devuyst O, Thakker RV TITLE Dent's disease. JOURNAL Orphanet J Rare Dis 5:28 (2010) DOI:10.1186/1750-1172-5-28 PMID:15086899 (DENT1) AUTHORS Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ TITLE Evidence for genetic heterogeneity in Dent's disease. JOURNAL Kidney Int 65:1615-20 (2004) DOI:10.1111/j.1523-1755.2004.00571.x PMID:15627218 (DENT2) AUTHORS Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ TITLE Dent Disease with mutations in OCRL1. JOURNAL Am J Hum Genet 76:260-7 (2005) DOI:10.1086/427887 |