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idiopathic copper-associated cirrhosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

idiopathic copper-associated cirrhosis

MONDO:0016204

Also known as:non-Wilsonian hepatic copper toxicosis of infancy and childhood

Overview

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.

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Liver scarring (cirrhosis) (cirrhosis) and Copper accumulation in liver; and common findings: Hepatic steatosis, Increased urinary copper concentration, and Increased circulating copper concentration.

Organ System	Phenotype Count	Example Features
Digestive system	3	Liver scarring (cirrhosis) (cirrhosis), Copper accumulation in liver, Hepatic steatosis

Diagnosis

Biomarker and diagnostic research for idiopathic copper-associated cirrhosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for idiopathic copper-associated cirrhosis.

3 publications have been identified in PubMed for idiopathic copper-associated cirrhosis. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Pandey R (2026). [PMID: 41406573](https://pubmed.ncbi.nlm.nih.gov/41406573/). *Redox biology*. [Gene Therapy / Novel Therapeutics]
Tinoco-Nájera A (2026). [PMID: 41072468](https://pubmed.ncbi.nlm.nih.gov/41072468/). *American journal of veterinary research*. [Diagnostic / Biomarker]
Teschke R (2024). [PMID: 38928368](https://pubmed.ncbi.nlm.nih.gov/38928368/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:209919

GARD

Genetic and Rare Diseases Info Center

GARD:17106

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

idiopathic copper-associated cirrhosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Clinico-radiological Differences between Porto-sinusoidal Vascular Disorder and Cirrhosis.

Expert Practical Recommendations for Portal Hypertension in Cirrhosis.

Progressive multifocal leukoencephalopathy: a rare cause of neurological disorders in a patient with cirrhosis.

idiopathic copper-associated cirrhosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Clinico-radiological Differences between Porto-sinusoidal Vascular Disorder and Cirrhosis.

Expert Practical Recommendations for Portal Hypertension in Cirrhosis.

Progressive multifocal leukoencephalopathy: a rare cause of neurological disorders in a patient with cirrhosis.