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ORPHA:69663

Low phospholipid-associated cholelithiasis

medium confidenceDisorder

Also known as: ABCB4-related cholelithiasis · LPAC

Publications

310

80.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,034

Distinct authors in sample

Gene link

ABCB4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.

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 (7)

ABCB4 gene mutation-associated cholelithiasis · GBD1 · cholelithiasis with ABCB4 gene mutation · cholelithiasis, low phospholipid-associated · gallbladder disease 1 · gallbladder disease type 1 · low phospholipid associated cholelithiasis

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.

  1. Gene identifiedPresent

    Definitive — ABCB4

  2. LiteraturePresent

    310 matched papers (228 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; 102 for broader category cholelithiasis

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 (ABCB4).

GenCC classification: Definitive.

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?

310

310 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.

310 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).

228 in the last 10 years · medium confidence · 80.7th percentile (publications denominator)

Phrase hits: 310 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,034

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
    Barbu V12 papers · 2022

    Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMR_S 938, Centre de Recherche Saint-Antoine, F-75012, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Centre de Référence Maladies Rares, Maladies Inflammatoires des Voies Biliaires, F-75012, Paris, France.

    Papers in Europe PMC
  2. 02
    Corpechot C10 papers · 2025

    UMR_S938, INSERM, Centre de Recherche Saint-Antoine (CRSA), Institute of Cardiometabolism and Nutrition (ICAN), Sorbonne Université, 27, rue Chaligny, 75571, Paris, France.

    Papers in Europe PMC
  3. 03
    Housset C10 papers · 2023

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), 75012 Paris, France.

    Papers in Europe PMC
  4. 04
    Lammert F10 papers · 2026

    Medizinische Klinik III, Universitätsklinikum Aachen, RWTH Aachen, Aachen.

    Papers in Europe PMC
  5. 05
    Delaunay JL8 papers · 2025

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), 75012 Paris, France.

    Papers in Europe PMC
  6. 06
    Aït-Slimane T7 papers · 2025

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), 75012 Paris, France.

    Papers in Europe PMC
  7. 07
    Chazouillères O7 papers · 2025

    Centre de Référence des Maladies Inflammatoires des Voies Biliaires et des Hépatites Auto-Immunes (MIVB-H), Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte (FILFOIE), Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France.

    Papers in Europe PMC
  8. 08
    Jacquemin E7 papers · 2025

    Inserm, Université Paris-Saclay, Physiopathogénèse et Traitement des Maladies du Foie, UMR_S 1193, Hepatinov, 91400 Orsay, France.

    Papers in Europe PMC
  9. 09
    Durand-Schneider AM6 papers · 2023

    Inserm, Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), UMR_S 938, Institute of Cardiometabolism and Nutrition (ICAN), 75012 Paris, France.

    Papers in Europe PMC
  10. 10
    Falguières T6 papers · 2023

    Inserm, Université Paris-Saclay, Physiopathogénèse et Traitement des Maladies du Foie, UMR_S 1193, Hepatinov, 91400 Orsay, France.

    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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 102 trials are registered for cholelithiasis, 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.

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

Broader category: cholelithiasis

102

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

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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.

"Low phospholipid-associated cholelithiasis" OR "ABCB4-related cholelithiasis" OR "ABCB4 gene mutation-associated cholelithiasis" OR "cholelithiasis with ABCB4 gene mutation" OR "cholelithiasis, low phospholipid-associated" OR "gallbladder disease 1" OR "gallbladder disease type 1" OR "low phospholipid associated cholelithiasis"

Run this search on Europe PMC

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

"Low phospholipid-associated cholelithiasis" OR "ABCB4-related cholelithiasis" OR "ABCB4 gene mutation-associated cholelithiasis" OR "cholelithiasis with ABCB4 gene mutation" OR "cholelithiasis, low phospholipid-associated" OR "gallbladder disease 1" OR "gallbladder disease type 1" OR "low phospholipid associated cholelithiasis" OR "ABCB4"

Recall-expansion terms: ABCB4

Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"cholelithiasis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LPAC; GBD1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:29:10.740Z