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ORPHA:562639

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

high confidenceDisorder

Also known as: Overlap syndromes of autoimmune liver diseases · PBC/PSC and AIH overlap syndrome

Publications

15

21.1th percentile

Trials

0

Interventional, condition-specific

Researchers

61

Distinct authors in sample

Gene link

—

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    15 matched papers (5 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Elevated circulating hepatic transaminase concentration; Anti-hexokinase-1 antibody positivity; Cirrhosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

36

Associated phenotypes · MONDO:0034189

  • Elevated circulating hepatic transaminase concentration
  • Anti-hexokinase-1 antibody positivity
  • Cirrhosis
  • Hyperbilirubinemia
  • Elevated circulating alkaline phosphatase concentration

Showing 5 of 36 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

15 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

5 in the last 10 years · high confidence · 21.1th percentile (publications denominator)

Phrase hits: 15 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Adams DH2 papers · 2012

    Centre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Edgbaston, Birmingham, B15 2TT UK

    Papers in Europe PMC
  2. 02
    Oo YH2 papers · 2012

    Centre for Liver Research, NIHR Biomedical Research Unit, University of Birmingham, Edgbaston, Birmingham, B15 2TT UK

    Papers in Europe PMC
  3. 03
    Al-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
  4. 04
    Alkassar WY1 paper · 2026

    Department of Microbiology and Immunology, Faculty of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.

    Papers in Europe PMC
  5. 05
    Bahaj SS1 paper · 2026

    Department of Microbiology and Immunology, Faculty of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.

    Papers in Europe PMC
  6. 06
    Bantel H1 paper · 2018

    Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  7. 07
    Baumann U1 paper · 2018

    Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  8. 08
    Beuers U1 paper · 2008
    Papers in Europe PMC
  9. 09
    Bhanji RA1 paper · 2013

    Division of Gastroenterology & Liver Unit, Zeidler Ledcor Centre, Edmonton, Alberta, Canada.

    Papers in Europe PMC
  10. 10
    Biloglav Z1 paper · 2019
    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 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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