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ORPHA:65682

Benign recurrent intrahepatic cholestasis

medium confidenceDisorder

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

Publications

787

80th percentile

Trials

0

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

—

Readiness

4/6

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.”

4/6 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 characterisedPresent

    44 HPO annotations (e.g. Short stature; Elevated circulating alkaline phosphatase concentration; Conjugated hyperbilirubinemia) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) 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; 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)

44

Associated phenotypes · MONDO:0019008

  • Short stature
  • Elevated circulating alkaline phosphatase concentration
  • Conjugated hyperbilirubinemia
  • Hepatocellular carcinoma
  • Diarrhea

Showing 5 of 44 — open Monarch for the full list.

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?

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=3967) is 59.

787 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).

371 in the last 10 years · medium confidence · 80th 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 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.

medium 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.

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

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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).

Uncertain / not reviewed (15)

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 Benign recurrent intrahepatic cholestasis — 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.

"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