| H00742 | |
| H number | H00742 |
| Name | Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome; Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | CLDN1 [HSA:9076] [KO:K06087] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: DB96.2Y MeSH: C564365 OMIM: 607626 |
| Reference | PMID:21865982 AUTHORS 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 TITLE Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. JOURNAL J Pediatr Gastroenterol Nutr 53:350-4 (2011) DOI:10.1097/MPG.0b013e3182169433 PMID:22030598 AUTHORS Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E TITLE Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. JOURNAL Hepatology 55:1249-59 (2012) DOI:10.1002/hep.24761 PMID:15768832 AUTHORS Carlton VE, Pawlikowska L, Bull LN TITLE Molecular basis of intrahepatic cholestasis. JOURNAL Ann Med 36:606-17 (2004) DOI:10.1080/07853890410018916 |