ORPHA:485426
Isolated congenital hepatic fibrosis
Also known as: Isolated CHF
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,118
Trials
0
Interventional, condition-specific
Researchers
1,085
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare parenchymal liver disease characterized by fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018840
- MeSH:C562378
- UMLS:C0009714
- NCIT:C97071
Additional Mondo synonyms (3)
Congenital Hepatic Fibrosis · congenital hepatic fibrosis · nonsyndromic congenital hepatic fibrosis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,118 matched papers (922 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2,118
2,118 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,118 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
922 in the last 10 years · low confidence
Phrase hits: 2,118 · MeSH hits: 0
Who's working on it?
1,085
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Hartung EA5 papers · 2026
Division of Nephrology, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA. hartunge@chop.edu.
Papers in Europe PMC - 02Guay-Woodford LM4 papers · 2026
Center for Translational Science, Children's National Research Institute, Children's National Hospital, Washington, District of Columbia, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. Electronic address: guaywoodfl@chop.edu.
Papers in Europe PMC - 03Liu H4 papers · 2026
Department of Hepatology, Chongqing Traditional Chinese Medicine Hospital, Chongqing, China.
Papers in Europe PMC - 04Sayer JA4 papers · 2025
Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Papers in Europe PMC - 05Wang L4 papers · 2026
The Center for Pediatric Liver Diseases Children's Hospital of Fudan University, National Children's Medical Center Shanghai China.
Papers in Europe PMC - 06Zhang Y4 papers · 2026
The Center for Pediatric Liver Diseases Children's Hospital of Fudan University, National Children's Medical Center Shanghai China.
Papers in Europe PMC - 07Huang Y3 papers · 2026
Department of Emergency, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 08Jiang L3 papers · 2024
Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, New York, United States.
Papers in Europe PMC - 09Li Y3 papers · 2025
Department of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Papers in Europe PMC - 10Liebau MC3 papers · 2025
Department of Pediatrics, Center for Family Health Center for Molecular Medicine Cologne and Center for Rare Disease, University of Cologne, Cologne, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01401998·RECRUITING·ARPKD Database Study
Conditions: Hepato/Renal Fibrocystic Disease · Autosomal Recessive Polycystic Kidney Disease · Joubert Syndrome · Bardet Biedl Syndrome·Matched via name phrase
- NCT02417740·RECRUITING·Natural History of Noncirrhotic Portal Hypertension
Conditions: Cystic Fibrosis · Immunologic Deficiency Syndrome · Turner Syndrome · Congenital Hepatic Fibrosis·Matched via name phrase
- NCT06601829·RECRUITING·Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Conditions: Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Isolated congenital hepatic fibrosis" OR "Isolated CHF" OR "Congenital Hepatic Fibrosis" OR "nonsyndromic congenital hepatic fibrosis"
MeSH descriptor terms unioned into the query: Hepatic Fibrosis, Congenital
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated congenital hepatic fibrosis" OR "Isolated CHF" OR "Congenital Hepatic Fibrosis" OR "nonsyndromic congenital hepatic fibrosis" OR "Hepatic Fibrosis, Congenital"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2118) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T17:21:01.338Z