isolated neonatal sclerosing cholangitis
Findings
No curated finding names isolated neonatal sclerosing cholangitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018816), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CholestasisHPOHP:0001396
- 4 of 4 reported patients · Neonatal onset
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 7 of 7 reported patients
- Hepatic failureHPOHP:0001399
- 4 of 4 reported patients
- JaundiceHPOHP:0000952
- 7 of 7 reported patients
- Portal fibrosisHPOHP:0006580
- 4 of 4 reported patients
- Portal hypertensionHPOHP:0001409
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCDC2HGNC:18141
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021