KEGG   DISEASE: Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Entry
H00742                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00742  Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of liver
   DB96  Autoimmune liver disease
    H00742  Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Related
pathway
hsa04514  Cell adhesion molecules
hsa04530  Tight junction
hsa04670  Leukocyte transendothelial migration
Gene
CLDN1 [HSA:9076] [KO:K06087]
Other DBs
ICD-11: DB96.2Y
MeSH: C564365
OMIM: 607626
Reference
  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
Reference
  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
Reference
  Authors
Carlton VE, Pawlikowska L, Bull LN
  Title
Molecular basis of intrahepatic cholestasis.
  Journal
Ann Med 36:606-17 (2004)
DOI:10.1080/07853890410018916

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