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ORPHA:480483

Progressive familial intrahepatic cholestasis type 4

low confidenceSubtype of disorder

Also known as: PFIC4 · TJP2 deficit

Publications

1,882

Trials

0

Interventional, condition-specific

Researchers

412

Distinct authors in sample

Gene link

TJP2

Strong

Readiness

5/6

Stages with a signal

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

TJP2 progressive familial intrahepatic cholestasis · cholestasis, progressive familial intrahepatic, 4 · cholestasis, progressive familial intrahepatic, type 4 · progressive familial intrahepatic cholestasis caused by mutation in TJP2 · progressive familial intrahepatic cholestasis type 4

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — TJP2

  2. LiteraturePresent

    1,882 matched papers (1,355 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Hepatic failure; Portal hypertension; Cirrhosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 12 for broader category progressive familial intrahepatic cholestasis

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 (TJP2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

5

Associated phenotypes · MONDO:0014381

  • Hepatic failure
  • Portal hypertension
  • Cirrhosis
  • Intrahepatic cholestasis
  • Hepatocellular carcinoma

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,882

1,882 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.

1,882 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).

1,355 in the last 10 years · low confidence

Phrase hits: 76 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

412

Distinct author names in 76 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Vitale G4 papers · 2025

    ITEC Unit, Department of Medical and Surgical Sciences, University of Bologna, Italy; Research Centre for the Study of Hepatitis, University of Bologna, Italy; End-stage Liver Disease Unit, Department of Medical and Surgical Sciences, Sant'Orsola-Malpighi Hospital, University of Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Anakk S2 papers · 2019

    Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois.

    Papers in Europe PMC
  3. 03
    Andreone P2 papers · 2019

    ITEC Unit, Department of Medical and Surgical Sciences, University of Bologna, Italy; Research Centre for the Study of Hepatitis, University of Bologna, Italy. Electronic address: pietro.andreone@unibo.it.

    Papers in Europe PMC
  4. 04
    Arizpe A2 papers · 2019

    School of Natural Science, University of Texas at Austin, Austin, Texas.

    Papers in Europe PMC
  5. 05
    Choi JM2 papers · 2019

    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas.

    Papers in Europe PMC
  6. 06
    Cirillo F2 papers · 2026

    Pediatric Hepatology and Paediatric Liver Transplantation, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione, 90127 Palermo, Italy.

    Papers in Europe PMC
  7. 07
    Drozdzik M2 papers · 2024

    Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, 70-111 Szczecin, Poland.

    Papers in Europe PMC
  8. 08
    Elmonem MA2 papers · 2026

    Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.

    Papers in Europe PMC
  9. 09
    Fabre A2 papers · 2024

    Pediatric Gastroenterology, Hepatology and Nutrition Unit, Marseille University Hospital, 13288 Marseille, France.

    Papers in Europe PMC
  10. 10
    Gitto S2 papers · 2019

    ITEC Unit, Department of Medical and Surgical Sciences, University of Bologna, Italy; Research Centre for the Study of Hepatitis, University of Bologna, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

12 interventional trials matched progressive familial intrahepatic cholestasis, the broader category — listed below. Those studies are not counted in the condition-specific total.

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 4 — 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 4" OR "PFIC4" OR "TJP2 deficit" OR "TJP2 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic, 4" OR "cholestasis, progressive familial intrahepatic, type 4" OR "progressive familial intrahepatic cholestasis caused by mutation in TJP2") OR ("TJP2" OR "TJP2 syndrome" OR "TJP2-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 4" OR "PFIC4" OR "TJP2 deficit" OR "TJP2 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic, 4" OR "cholestasis, progressive familial intrahepatic, type 4" OR "progressive familial intrahepatic cholestasis caused by mutation in TJP2"

Study-type breakdown: 0 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
  • Publication count (1882) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:12:16.372Z