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ORPHA:65682

Benign recurrent intrahepatic cholestasis

medium confidenceDisorder

Also known as: BRIC · Summerskill-Walshe-Tygstrup syndrome

Publications

787

87.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Benign recurrent intrahepatic cholestasis (BRIC) is a liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and cholestasis seen in familial intrahepatic cholestasis (PFIC).

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 (2)

Bric · cholestasis, benign recurrent 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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    787 matched papers (371 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 trialPartial

    None under the specific name; 24 for broader category 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

787

787 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.

787 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).

371 in the last 10 years · medium confidence · 87.3th percentile (publications denominator)

Phrase hits: 787 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,136

Distinct author names in 200 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
    Li J6 papers · 2026

    Department of Hepatobiliary and Pancreatic Surgery, Affiliated Hospital of Guilin Medical University, Guilin, 541001, People's Republic of China.

    Papers in Europe PMC
  2. 02
    Chen Y5 papers · 2026

    Fourth Department of Liver Disease (Difficult & Complicated Liver Diseases and Artificial Liver Center), Beijing You An Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Krawczyk M5 papers · 2026

    Department of Medicine II, Saarland University Medical Center Saarland University Homburg Germany.

    Papers in Europe PMC
  4. 04
    Lammert F5 papers · 2026

    Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany. Electronic address: frank.lammert@uks.eu.

    Papers in Europe PMC
  5. 05
    Hayashi H4 papers · 2023

    Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Kremer AE4 papers · 2025

    Department of Medicine I Friedrich-Alexander-University Erlangen-Nürnberg Erlangen Germany.

    Papers in Europe PMC
  7. 07
    Squires JE4 papers · 2026

    Division of Gastroenterology and Hepatology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

    Papers in Europe PMC
  8. 08
    Wang J4 papers · 2026

    The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.

    Papers in Europe PMC
  9. 09
    Weber SN4 papers · 2026

    Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany. Electronic address: susanne.weber@uks.eu.

    Papers in Europe PMC
  10. 10
    Bitar R3 papers · 2025

    Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.

    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). 24 trials are registered for 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.

medium 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.

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

Broader category: intrahepatic cholestasis

24

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.

"Benign recurrent intrahepatic cholestasis" OR "Summerskill-Walshe-Tygstrup syndrome" OR "cholestasis, benign recurrent intrahepatic"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Benign recurrent intrahepatic cholestasis" OR "Summerskill-Walshe-Tygstrup syndrome" OR "cholestasis, benign recurrent intrahepatic"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"intrahepatic cholestasis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BRIC

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

Ingested 2026-07-27T01:18:18.727Z