RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:69663

Low phospholipid-associated cholelithiasis

low confidenceDisorder

Also known as: ABCB4-related cholelithiasis · LPAC

Publications

3,474

Trials

0

Interventional, condition-specific

Researchers

1,034

Distinct authors in sample

Gene link

ABCB4

Definitive

Readiness

4/6

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.”

4/6 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

    3,474 matched papers (2,291 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Hypertension; Cholecystitis; Pancreatitis) 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; 103 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)

31

Associated phenotypes · MONDO:0010939

  • Hypertension
  • Cholecystitis
  • Pancreatitis
  • Liver abscess
  • Elevated gamma-glutamyltransferase level

Showing 5 of 31 — 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?

3,474

3,474 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.

3,474 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).

2,291 in the last 10 years · low confidence

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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 103 trials are registered for cholelithiasis, 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.

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

Broader category: cholelithiasis

103

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

1 observational study matches 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

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 Low phospholipid-associated cholelithiasis — 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.

("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" OR "ABCB4 syndrome" OR "ABCB4-related")

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"cholelithiasis"

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

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
  • Publication count (3474) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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