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ORPHA:172

Progressive familial intrahepatic cholestasis

low confidenceDisorder

Also known as: PFIC

Publications

2,892

Trials

13

Interventional, condition-specific

Researchers

1,142

Distinct authors in sample

Gene link

ABCB11, ATP8B1, PLEC

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

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.

Additional Mondo synonyms (1)

cholestasis, progressive familial intrahepatic

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

    Strong — ABCB11, ATP8B1, PLEC

  2. LiteraturePresent

    2,892 matched papers (1,824 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

    13 matched on ClinicalTrials.gov (2 recruiting in sample)

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, ATP8B1, PLEC).

GenCC classification: Strong.

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?

2,892

2,892 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.

2,892 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).

1,824 in the last 10 years · low confidence

Phrase hits: 2,892 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,142

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
    Verkade HJ6 papers · 2026

    Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Gonzales E4 papers · 2025

    Université Paris-Saclay, Inserm, Physiopathogénèse et Traitement des Maladies du Foie, FHU Hepatinov, 91400 Orsay, France.

    Papers in Europe PMC
  3. 03
    Kuipers F4 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Sciveres M4 papers · 2025

    Pediatric Department and Transplantation, ISMETT IRCCS, Palermo, Italy.

    Papers in Europe PMC
  5. 05
    Chen HL3 papers · 2025

    Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  6. 06
    Dalgıç B3 papers · 2025

    Department of Pediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.

    Papers in Europe PMC
  7. 07
    de Boer JF3 papers · 2026

    Department of Pediatrics, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  8. 08
    Dehghani SM3 papers · 2026

    Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Fars Province, Iran, sums.ac.ir.

    Papers in Europe PMC
  9. 09
    Di Giorgio A3 papers · 2026

    Paediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.

    Papers in Europe PMC
  10. 10
    Eğritaş Gürkan Ö3 papers · 2025

    Department of Pediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

13 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: familial intrahepatic cholestasis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

16 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.

Recruiting or not-yet-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" OR "cholestasis, progressive familial intrahepatic"

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" OR "cholestasis, progressive familial intrahepatic" OR "ABCB11" OR "ATP8B1" OR "PLEC"

Recall-expansion terms: ABCB11, ATP8B1, PLEC

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: 13 interventional · 16 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"familial intrahepatic cholestasis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PFIC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2892) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:44:34.320Z