| H00742 | |
| H番号 | H00742 |
| 名称 | NISCH 症候群 |
| 概要 | Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | CLDN1 [HSA:9076] [KO:K06087] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: DB96.2Y MeSH: C564365 OMIM: 607626 |
| 文献 | PMID:21865982 著者 Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM タイトル Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. 雑誌 J Pediatr Gastroenterol Nutr 53:350-4 (2011) DOI:10.1097/MPG.0b013e3182169433 PMID:22030598 著者 Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E タイトル Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. 雑誌 Hepatology 55:1249-59 (2012) DOI:10.1002/hep.24761 PMID:15768832 著者 Carlton VE, Pawlikowska L, Bull LN タイトル Molecular basis of intrahepatic cholestasis. 雑誌 Ann Med 36:606-17 (2004) DOI:10.1080/07853890410018916 |