idiopathic copper-associated cirrhosis
Findings
No curated finding names idiopathic copper-associated cirrhosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Definition from the Mondo Disease Ontology (MONDO:0016204), read 2026-09-29. CC BY 4.0.
Features
5 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.
- CirrhosisHPOHP:0001394
- Obligate (100% of cases)
- Copper accumulation in liverHPOHP:0025321
- Obligate (100% of cases)
- Elevated circulating copper concentrationHPOHP:0032254
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- Increased urinary copper concentrationHPOHP:0010839
- Frequent (30% to 79% of cases)
Reported absent (1)
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
Where it sits
- A kind of
Other names
1 name
Resolves to: idiopathic copper-associated cirrhosis
- Also called
- non-Wilsonian hepatic copper toxicosis of infancy and childhood