ORPHA:480512
Idiopathic ductopenia
Also known as: Idiopathic adult ductopenia · IAD
Publications
32
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
158
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018807
- UMLS:C5702661
Additional Mondo synonyms (1)
idiopathic adult ductopenia
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
32 matched papers (15 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?
32
32 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
32 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).
15 in the last 10 years · medium confidence · 32.9th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
158
Distinct author names in 32 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.
- 01Hirschfield GM2 papers · 2020
NIHR Birmingham Biomedical Research Centre, Birmingham, UK.
Papers in Europe PMC - 02Kleiner DE2 papers · 2018
Laboratory of Pathology, National Cancer Institute, 10 Center Drive, Building 10, Room 2S235, MSC1500, Bethesda, MD 20892, USA. Electronic address: kleinerd@mail.nih.gov.
Papers in Europe PMC - 03Rajapaksha IG2 papers · 2019
Department of Medicine, The University of Melbourne, Melbourne, VIC 3084, Australia.
Papers in Europe PMC - 04Agni RM1 paper · 2011Papers in Europe PMC
- 05Aguilar Muñiz A1 paper · 2025
Departamento de Aparato Digestivo, Hospital Clínico Lozano Blesa, Zaragoza, España.
Papers in Europe PMC - 06Alaggio R1 paper · 2026
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Papers in Europe PMC - 07Alexander GJM1 paper · 2018
Sheila Sherlock Liver Centre, Royal Free London NHS Foundation Trust, London, UK.
Papers in Europe PMC - 08Angus PW1 paper · 2019
Department of Gastroenterology and Hepatology, Austin Health, Melbourne, VIC 3084, Australia.
Papers in Europe PMC - 09Arienzo F1 paper · 2026
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Papers in Europe PMC - 10Aso Gonzalvo MC1 paper · 2025
Departamento de Aparato Digestivo, Hospital Sanitario Barbastro, Barbastro, Aragón, España.
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. 1 observational study 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.
medium 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
1 observational study matches 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
- NCT01440218·ENROLLING BY INVITATION·Idiopathic Diseases of Man
Conditions: Rare Disease · Idiopathic Disease·Matched via recall expansion
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.
"Idiopathic ductopenia" OR "Idiopathic adult ductopenia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic ductopenia" OR "Idiopathic adult ductopenia" OR "idiopathic disease"
Recall-expansion terms: idiopathic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IAD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:13:01.703Z