Isolated congenital hepatic fibrosis

Summary

Isolated congenital hepatic fibrosis (MONDO:0018840) is a disease and 2 clinical trials. A subtype of biliary tract disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated congenital hepatic fibrosis
Mondo ID	MONDO:0018840
MeSH	C562378
Orphanet	485426
NCIT	C97071
SNOMED CT	79607001
UMLS	C0009714
MedGen	40449
GARD	0021995
NORD	1225
Is cancer (heuristic)	no

Also known as: congenital fibrose liver · Congenital Hepatic Fibrosis · congenital hepatic fibrosis · isolated CHF · nonsyndromic congenital hepatic fibrosis

Data availability: 1 cell line.

Disease family

This is a subtype of biliary tract 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 › biliary tract disorder › isolated congenital hepatic fibrosis

Related subtypes (14): bile duct disorder, biliary tract neoplasm, gallstones, primary biliary cholangitis, bile reflux, postcholecystectomy syndrome, Alagille syndrome, isolated agenesis of gallbladder, cholelithiasis, ketamine-induced biliary dilatation, follicular cholangitis and pancreatitis, idiopathic ductopenia, Caroli syndrome, Rokitansky-Aschoff sinuses of the gallbladder

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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02417740	Not specified	RECRUITING	Natural History of Noncirrhotic Portal Hypertension