ORPHA:562639
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Also known as: Overlap syndromes of autoimmune liver diseases · PBC/PSC and AIH overlap syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
15
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
61
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0034189
- UMLS:C5680117
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
15 matched papers (5 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 trialPartial
None under the specific name; 41 for broader category autoimmune hepatitis
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?
15
15 papers have ever been indexed 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.
15 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
61
Distinct author names in 15 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.
- 01Adams DH2 papers · 2012
Centre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Edgbaston, Birmingham, B15 2TT UK
Papers in Europe PMC - 02Oo YH2 papers · 2012
Centre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Edgbaston, Birmingham, B15 2TT UK
Papers in Europe PMC - 03Al-Madhagi AK1 paper · 2026
Department of Microbiology and Immunology, Faculty of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.
Papers in Europe PMC - 04Alkassar WY1 paper · 2026
Department of Microbiology and Immunology, Faculty of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.
Papers in Europe PMC - 05Bahaj SS1 paper · 2026
Department of Microbiology and Immunology, Faculty of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.
Papers in Europe PMC - 06Bantel H1 paper · 2018
Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 07Baumann U1 paper · 2018
Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 08Beuers U1 paper · 2008Papers in Europe PMC
- 09Bhanji RA1 paper · 2013
Division of Gastroenterology & Liver Unit, Zeidler Ledcor Centre, Edmonton, Alberta, Canada.
Papers in Europe PMC - 10Biloglav Z1 paper · 2019Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 41 trials are registered for autoimmune hepatitis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
41 interventional trials matched autoimmune hepatitis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autoimmune hepatitis
41
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06650124·NOT YET RECRUITING·Induction of Remission in Autoimmune Hepatitis With Azathioprine vs. MMF
Conditions: Autoimmune Hepatitis·Matched via name phrase
- NCT06855667·NOT YET RECRUITING·Efficacy and Safety of Therapeutic Plasma Exchange vs Standard Medical Therapy in Severe Autoimmune Hepatitis.
Conditions: Autoimmune Hepatitis·Matched via name phrase
- NCT06381453·RECRUITING·Belimumab in Autoimmune Hepatitis
Conditions: Autoimmune Hepatitis·Matched via name phrase
- NCT07118657·RECRUITING·Host-Diet-Gut Interaction Post Vegan Diet in Pediatric Autoimmune Hepatitis.
Conditions: Autoimmune Hepatitis·Matched via name phrase
- NCT07598825·NOT YET RECRUITING·A Trial of Inebilizumab in Participants With Autoimmune Hepatitis
Conditions: Autoimmune Hepatitis · AIH·Matched via name phrase
- NCT06250309·RECRUITING·Mediterranean Diet Versus Western Diet on Fatigue in Autoimmune Hepatitis Patients
Conditions: Autoimmune Hepatitis·Matched via name phrase
- NCT05473403·NOT YET RECRUITING·Validation of a Prognostic Score for Steroid Therapy Response in Acute Severe Autoimmune Hepatitis
Conditions: Liver Failure, Acute · Hepatitis, Autoimmune · Organ Dysfunction Scores · Risk Factors·Matched via name phrase
- NCT06455280·RECRUITING·A Study of SIPLIZUMAB in AILD and LT Patients
Conditions: Autoimmune Liver Disease · Liver Transplant Disorder · Autoimmune Hepatitis · Primary Sclerosing Cholangitis·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.
"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" OR "Overlap syndromes of autoimmune liver diseases" OR "Overlap syndromes of the autoimmune liver diseases" OR "PBC/PSC and AIH overlap syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" OR "Overlap syndromes of autoimmune liver diseases" OR "Overlap syndromes of the autoimmune liver diseases" OR "PBC/PSC and AIH overlap syndrome" OR "autoimmune disorder of endocrine system" OR "autoimmune disorder of exocrine system" OR "autoimmune disorder of gastrointestinal tract"
Recall-expansion terms: autoimmune disorder of endocrine system, autoimmune disorder of exocrine system, autoimmune disorder of gastrointestinal tract
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autoimmune hepatitis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T18:20:59.688Z