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ORPHA:79304

Progressive familial intrahepatic cholestasis type 2

high confidenceSubtype of disorder

Also known as: BSEP deficiency · PFIC2

Publications

907

90.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

ABCB11

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

familial intrahepatic cholestasis type 2 (PFIC2), a type of familial intrahepatic cholestasis (PFIC), is a severe, , disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

ABCB11 progressive familial intrahepatic cholestasis · cholestasis, progressive familial intrahepatic 2 · cholestasis, progressive familial intrahepatic, type 2 · progressive familial intrahepatic cholestasis caused by mutation in ABCB11 · progressive familial intrahepatic cholestasis type 2

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ABCB11

  2. LiteraturePresent

    907 matched papers (562 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (ABCB11).

GenCC classification: Definitive.

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?

907

907 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.

907 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).

562 in the last 10 years · high confidence · 90.9th percentile (publications denominator)

Phrase hits: 907 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Gonzales E15 papers · 2025

    Service d'Hépatologie et de Transplantation Hépatique Pédiatriques, Bicêtre Hôspital, AP-HP, Université Paris-Sud, Paris Saclay, Inserm UMR-S 1174, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).

    Papers in Europe PMC
  2. 02
    Jacquemin E14 papers · 2025

    Service d'Hépatologie et de Transplantation Hépatique Pédiatriques, Bicêtre Hôspital, AP-HP, Université Paris-Sud, Paris Saclay, Inserm UMR-S 1174, France.

    Papers in Europe PMC
  3. 03
    Hayashi H7 papers · 2024

    Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo.

    Papers in Europe PMC
  4. 04
    Thompson RJ7 papers · 2026

    King's College London, United Kingdom.

    Papers in Europe PMC
  5. 05
    Verkade HJ7 papers · 2026

    Research Laboratory Pediatrics, Beatrix Children's Hospital-University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; h.j.verkade@umcg.nl.

    Papers in Europe PMC
  6. 06
    Davit-Spraul A6 papers · 2021

    Biochemistry laboratory, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris, Université Paris-Sud 11, Le Kremlin-Bicêtre, France. Electronic address: anne.spraul@bct.aphp.fr.

    Papers in Europe PMC
  7. 07
    Kubitz R6 papers · 2017

    Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich Heine University, Düsseldorf, Germany.

    Papers in Europe PMC
  8. 08
    Lapalus M6 papers · 2025

    Inserm U1193, Hepatinov, University Paris-Saclay, Orsay.

    Papers in Europe PMC
  9. 09
    Mareux E6 papers · 2025

    Inserm U1193, Hepatinov, University Paris-Saclay, Orsay.

    Papers in Europe PMC
  10. 10
    Callebaut I5 papers · 2025

    Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie-IMPMC, Sorbonne Université, 75005 Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 12 trials are registered for progressive familial intrahepatic cholestasis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: progressive familial intrahepatic cholestasis

12

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

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Progressive familial intrahepatic cholestasis type 2" OR "BSEP deficiency" OR "PFIC2" OR "ABCB11 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic 2" OR "cholestasis, progressive familial intrahepatic, type 2" OR "progressive familial intrahepatic cholestasis caused by mutation in ABCB11"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Progressive familial intrahepatic cholestasis type 2" OR "BSEP deficiency" OR "PFIC2" OR "ABCB11 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic 2" OR "cholestasis, progressive familial intrahepatic, type 2" OR "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" OR "ABCB11"

Recall-expansion terms: ABCB11

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"progressive familial intrahepatic cholestasis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T02:14:39.007Z