hereditary North American Indian childhood cirrhosis
Findings
No curated finding names hereditary North American Indian childhood cirrhosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Definition from the Mondo Disease Ontology (MONDO:0011497), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Biliary cirrhosisHPOHP:0002613
- Portal hypertensionHPOHP:0001409
- Prolonged neonatal jaundiceHPOHP:0006579
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.
- UTP4HGNC:1983
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2010
- Refuted Evidence · PanelApp Australia · Autosomal recessive · 2025