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

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 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

Pathway

Cell adhesion molecules

Tight junction

Leukocyte transendothelial migration

Gene

CLDN1 [HSA:9076] [KO:K06087]

Other DBs

ICD-11:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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