Idiopathic copper-associated cirrhosis

Summary

Idiopathic copper-associated cirrhosis (MONDO:0016204) is a disease. A subtype of liver disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 6

Clinical features

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0001394	Cirrhosis	Obligate (100%)
HP:0025321	Copper accumulation in liver	Obligate (100%)
HP:0001397	Hepatic steatosis	Frequent (30-79%)
HP:0010839	Increased urinary copper concentration	Frequent (30-79%)
HP:0032254	Increased circulating copper concentration	Frequent (30-79%)
HP:0010837	Decreased circulating ceruloplasmin concentration	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	idiopathic copper-associated cirrhosis
Mondo ID	MONDO:0016204
Orphanet	209919
ICD-11	1692504835
SNOMED CT	715864007
UMLS	C4274853
MedGen	907284
GARD	0017106
Anatomy (UBERON)	UBERON:0001280
Is cancer (heuristic)	no

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

Disease family

This is a subtype of liver disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › idiopathic copper-associated cirrhosis

Related subtypes (31): polycystic echinococcosis, autosomal dominant polycystic liver disease, hepatorenal syndrome, hepatitis, hepatic vascular disorder, hepatic porphyria, hepatopulmonary syndrome, fatty liver disease, cirrhosis of liver, drug-induced liver injury, perinatal jaundice due to hepatocellular damage, Aagenaes syndrome, transient familial neonatal hyperbilirubinemia, hyperbiliverdinemia, transient infantile hypertriglyceridemia and hepatosteatosis, familial intrahepatic cholestasis, bile duct cyst, nodular regenerative hyperplasia of the liver, hepatoportal sclerosis, primitive portal vein thrombosis, glycogen storage disease due to liver phosphorylase kinase deficiency, liver and intrahepatic bile duct neoplasm, alcoholic liver disease, early-onset familial noncirrhotic portal hypertension, liver failure, fibrotic liver disease, intestinal failure–associated liver disease, liver abscess (disease), membranous obstruction of inferior vena cava, liver disease, severe congenital, cystic fibrosis-related liver disease

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.