ORPHA:480476
Progressive familial intrahepatic cholestasis type 5
Also known as: NR1H4 deficiency · PFIC5
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
62
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
358
Distinct authors in sample
Gene link
NR1H4
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014884
- OMIM:617049
- UMLS:C4310747
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — NR1H4
- LiteraturePresent
62 matched papers (61 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
62
62 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
62 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).
61 in the last 10 years · high confidence · 57.5th percentile (publications denominator)
Phrase hits: 62 · MeSH hits: 0
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.
- 01Vitale 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 - 02Wang JS3 papers · 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 03Anakk S2 papers · 2019
Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois.
Papers in Europe PMC - 04Arizpe A2 papers · 2019
School of Natural Science, University of Texas at Austin, Austin, Texas.
Papers in Europe PMC - 05Attema 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 - 06Berezikov 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 - 07Bloks VW2 papers · 2026
Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 08Chen J2 papers · 2024
Translational Medicine Center, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang 310015, P.R. China.
Papers in Europe PMC - 09Choi JM2 papers · 2019
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 10de 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT07317193·RECRUITING·DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE
Conditions: Cholestatic Liver Disease · Progressive Familial Intrahepatic Cholestasis·Matched via name phrase
- NCT07290257·RECRUITING·Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)
Conditions: Alagille Syndrome · Progressive Familial Intrahepatic Cholestasis·Matched via name phrase
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 2026-07-26This 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"
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" OR "NR1H4"
Recall-expansion terms: 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: 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 2026-07-27T17:12:05.138Z