RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79305

Progressive familial intrahepatic cholestasis type 3

high confidenceSubtype of disorder

Also known as: PFIC3

Publications

636

89th percentile

Trials

1

Interventional, condition-specific

Researchers

1,161

Distinct authors in sample

Gene link

ABCB4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

familial intrahepatic cholestasis type 3 (PFIC3), a type of familial intrahepatic cholestasis (PFIC), is a late-onset disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.

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)

ABCB4 progressive familial intrahepatic cholestasis · MDR3 Deficiency · cholestasis, progressive familial intrahepatic 3 · cholestasis, progressive familial intrahepatic, type 3 · progressive familial intrahepatic cholestasis caused by mutation in ABCB4

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 — ABCB4

  2. LiteraturePresent

    636 matched papers (435 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 (ABCB4).

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?

636

636 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.

636 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).

435 in the last 10 years · high confidence · 89th percentile (publications denominator)

Phrase hits: 636 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,161

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
    Jacquemin E11 papers · 2026

    Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Hépatologie Pédiatrique & Unité de Transplantation Hépatique, Centre de Référence Maladies Rares Atrésies des Voies Biliaires de l'Enfant, Le Kremlin Bicêtre, France.

    Papers in Europe PMC
  2. 02
    Aït-Slimane T9 papers · 2025

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), F-75012, Paris, France.

    Papers in Europe PMC
  3. 03
    Falguières T9 papers · 2026

    Inserm U1193 Physiopathogenesis and Treatment of Liver Diseases - Hepatinov, Univ. Paris, Saclay, France.

    Papers in Europe PMC
  4. 04
    Delaunay JL8 papers · 2025

    Institut National de la Santé et de la Recherche Médicale UMR S893, Paris, France.

    Papers in Europe PMC
  5. 05
    Housset C8 papers · 2023

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), F-75012, Paris, France.

    Papers in Europe PMC
  6. 06
    Durand-Schneider AM7 papers · 2023

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), F-75012, Paris, France.

    Papers in Europe PMC
  7. 07
    Gonzales E7 papers · 2026

    Pediatric Hepatology and Pediatric Liver Transplant Unit, Reference Center for Biliary Atresia and Genetic Cholestasis, FSMR FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  8. 08
    Bruneau A5 papers · 2023

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), F-75012, Paris, France.

    Papers in Europe PMC
  9. 09
    Zhang M5 papers · 2026

    Department of Hepatobiliary Surgery, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

    Papers in Europe PMC
  10. 10
    Barbu V4 papers · 2018

    Laboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75012, 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

2 observational studies match 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 3" OR "PFIC3" OR "ABCB4 progressive familial intrahepatic cholestasis" OR "MDR3 Deficiency" OR "cholestasis, progressive familial intrahepatic 3" OR "cholestasis, progressive familial intrahepatic, type 3" OR "progressive familial intrahepatic cholestasis caused by mutation in ABCB4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cholestasis, progressive familial intrahepatic 3

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

"Progressive familial intrahepatic cholestasis type 3" OR "PFIC3" OR "ABCB4 progressive familial intrahepatic cholestasis" OR "MDR3 Deficiency" OR "cholestasis, progressive familial intrahepatic 3" OR "cholestasis, progressive familial intrahepatic, type 3" OR "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" OR "ABCB4"

Recall-expansion terms: ABCB4

Interventional trials matched via: both (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 · 2 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, mesh, recall-expansion; with hits: phrase, mesh, 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 2026-07-27T02:14:50.994Z