| H00694 | |
| H番号 | H00694 |
| 名称 | デント病 |
| 概要 | 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. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (DENT1) CLCN5 [HSA:1184] [KO:K05012] (DENT2) OCRL [HSA:4952] [KO:K01099] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: GB90.4Y ICD-10: N25.8 MeSH: D057973 OMIM: 300009 300555 |
| 文献 | PMID:20946626 著者 Devuyst O, Thakker RV タイトル Dent's disease. 雑誌 Orphanet J Rare Dis 5:28 (2010) DOI:10.1186/1750-1172-5-28 PMID:15086899 (DENT1) 著者 Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ タイトル Evidence for genetic heterogeneity in Dent's disease. 雑誌 Kidney Int 65:1615-20 (2004) DOI:10.1111/j.1523-1755.2004.00571.x PMID:15627218 (DENT2) 著者 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 タイトル Dent Disease with mutations in OCRL1. 雑誌 Am J Hum Genet 76:260-7 (2005) DOI:10.1086/427887 |