| H00692 | |
| H番号 | H00692 |
| 名称 | ロウ症候群 |
| 概要 | Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol (4, 5) biphosphate 5-phosphatase, present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | OCRL [HSA:4952] [KO:K01099] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Mutations in OCRL1 gene also cause Dent disease [DS:H00694]. |
| リンク | ICD-11: 5C60.0 ICD-10: E72.0 MeSH: D009800 OMIM: 309000 |
| 文献 | PMID:16722554 著者 Loi M タイトル Lowe syndrome. 雑誌 Orphanet J Rare Dis 1:16 (2006) DOI:10.1186/1750-1172-1-16 PMID:21103682 著者 Maia ML, do Val ML, Genzani CP, Fernandes FA, de Andrade MC, Carvalhaes JT タイトル Lowe syndrome: report of five cases. 雑誌 J Bras Nefrol 32:216-22 (2010) DOI:10.1590/S0101-28002010000200011 PMID:9632163 (OCRL) 著者 Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I タイトル Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. 雑誌 Am J Med Genet 77:348-55 (1998) |