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ORPHA:79306

Progressive familial intrahepatic cholestasis type 1

high confidenceSubtype of disorder

Also known as: Byler disease · FIC1 deficiency · PFIC1

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

634

86.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,206

Distinct authors in sample

Gene link

ATP8B1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

PFIC1, a type of familial intrahepathic cholestasis (PFIC), is an disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.

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 (2)

cholestasis, progressive familial intrahepatic 1 · cholestasis, progressive familial intrahepatic, type 1

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 — ATP8B1

  2. LiteraturePresent

    634 matched papers (346 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 (ATP8B1).

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?

634

634 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.

634 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).

346 in the last 10 years · high confidence · 86.5th percentile (publications denominator)

Phrase hits: 634 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,206

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
    Paulusma CC13 papers · 2025

    Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, 1105 AZ Amsterdam, Netherlands.

    Papers in Europe PMC
  2. 02
    Ho-Mok KS8 papers · 2025

    Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Oude Elferink RP7 papers · 2016

    Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Bull LN6 papers · 2025

    Liver Center Laboratory, Department of Medicine University of California San Francisco San Francisco CA.

    Papers in Europe PMC
  5. 05
    Duijst S6 papers · 2025

    Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Fukuda A6 papers · 2023

    Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Hayashi H6 papers · 2023

    Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan. Electronic address: hayapi@mol.f.u-tokyo.ac.jp.

    Papers in Europe PMC
  8. 08
    Kasahara M6 papers · 2023

    Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Bessho K5 papers · 2022

    Department of Pediatrics, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan. bessho@ped.med.osaka-u.ac.jp.

    Papers in Europe PMC
  10. 10
    Bosma PJ5 papers · 2024

    Amsterdam University Medical Center, Tytgat Institute for Liver and Intestinal Research, AG&M, University of Amsterdam, Meibergdreef 69-71, 1105 BK Amsterdam, The Netherlands.

    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

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 1" OR "Byler disease" OR "FIC1 deficiency" OR "PFIC1" OR "cholestasis, progressive familial intrahepatic 1" OR "cholestasis, progressive familial intrahepatic, type 1"

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 1" OR "Byler disease" OR "FIC1 deficiency" OR "PFIC1" OR "cholestasis, progressive familial intrahepatic 1" OR "cholestasis, progressive familial intrahepatic, type 1" OR "ATP8B1"

Recall-expansion terms: ATP8B1

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 · 3 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"progressive familial intrahepatic cholestasis"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T02:15:00.178Z