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ORPHA:79304

Progressive familial intrahepatic cholestasis type 2

high confidenceSubtype of disorder

Also known as: BSEP deficiency · PFIC2

Publications

4,143

91.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

ABCB11

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ABCB11

  2. LiteraturePresent

    4,143 matched papers (2,531 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Short stature; Elevated circulating alkaline phosphatase concentration; Conjugated hyperbilirubinemia) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationNot found

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

  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)

13

Associated phenotypes · MONDO:0011156

  • Short stature
  • Elevated circulating alkaline phosphatase concentration
  • Conjugated hyperbilirubinemia
  • Hepatocellular carcinoma
  • Diarrhea

Showing 5 of 13 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0011156

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,143

4,143 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=3967) is 59.

4,143 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).

2,531 in the last 10 years · high confidence · 91.4th 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Progressive familial intrahepatic cholestasis type 2 — 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.

("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" OR "ABCB11 syndrome" OR "ABCB11-related")

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"

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 · 0 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; 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 2026-07-27T02:14:39.007Z