Isolated neonatal sclerosing cholangitis
Isolated neonatal sclerosing cholangitis is a rare genetic biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice acholic stools hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis ductular proliferation hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Isolated neonatal sclerosing cholangitis?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.