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ORPHA:480476

Progressive familial intrahepatic cholestasis type 5

low confidenceSubtype of disorder

Also known as: NR1H4 deficiency · PFIC5

Publications

2,764

Trials

0

Interventional, condition-specific

Researchers

358

Distinct authors in sample

Gene link

NR1H4

Strong

Readiness

4/6

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)

NR1H4 progressive familial intrahepatic cholestasis · cholestasis, progressive familial intrahepatic, 5 · cholestasis, progressive familial intrahepatic, 5; PFIC5 · cholestasis, progressive familial intrahepatic, type 5 · progressive familial intrahepatic cholestasis caused by mutation in NR1H4

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — NR1H4

  2. LiteraturePresent

    2,764 matched papers (2,048 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Ascites; Elevated circulating aspartate aminotransferase concentration; Cirrhosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (NR1H4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0014884

  • Ascites
  • Elevated circulating aspartate aminotransferase concentration
  • Cirrhosis
  • Jaundice
  • Pleural effusion

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

2,764

2,764 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.

2,764 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).

2,048 in the last 10 years · low confidence

Phrase hits: 62 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

358

Distinct author names in 62 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 G3 papers · 2025

    Internal Medicine Unit for the Treatment of Severe Organ Failure, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Wang JS3 papers · 2024

    The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Anakk S2 papers · 2019

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

    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
    Attema B2 papers · 2026

    European Research Institute for the Biology of Aging (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Berezikov E2 papers · 2026

    European Research Institute for the Biology of Aging (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  7. 07
    Bloks VW2 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Chen J2 papers · 2024

    Translational Medicine Center, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang 310015, P.R. China.

    Papers in Europe PMC
  9. 09
    Choi JM2 papers · 2019

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

    Papers in Europe PMC
  10. 10
    de Boer JF2 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: j.f.de.boer@umcg.nl.

    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 5 — 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 5" OR "NR1H4 deficiency" OR "PFIC5" OR "NR1H4 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic, 5" OR "cholestasis, progressive familial intrahepatic, 5; PFIC5" OR "cholestasis, progressive familial intrahepatic, type 5" OR "progressive familial intrahepatic cholestasis caused by mutation in NR1H4") OR ("NR1H4" OR "NR1H4 syndrome" OR "NR1H4-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 5" OR "NR1H4 deficiency" OR "PFIC5" OR "NR1H4 progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic, 5" OR "cholestasis, progressive familial intrahepatic, 5; PFIC5" OR "cholestasis, progressive familial intrahepatic, type 5" OR "progressive familial intrahepatic cholestasis caused by mutation in NR1H4"

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 (2764) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:12:05.138Z