ORPHA:75234
Cholesteryl ester storage disease
Also known as: Cholesterol ester storage disease
Publications
714
86.3th percentile
Trials
3
Interventional, condition-specific
Researchers
1,186
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of lysosomal acid lipase deficiency characterized by cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with , liver dysfunction and/or dyslipidemia.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019149
- OMIM:278000
- UMLS:C0008384
Additional Mondo synonyms (5)
LAL deficiency, partial · LIPA deficiency, partial · cholesterol ester hydrolase deficiency, partial · cholesterol ester storage disease · lysosomal acid lipase deficiency, partial
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
714 matched papers (340 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 trialPresent
3 matched on ClinicalTrials.gov
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?
714
714 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.
714 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).
340 in the last 10 years · high confidence · 86.3th percentile (publications denominator)
Phrase hits: 714 · MeSH hits: 0
Who's working on it?
1,186
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Pisciotta L6 papers · 2020
Department of Internal Medicine, University of Genoa, Italy.
Papers in Europe PMC - 02Bertolini S5 papers · 2018
Department of Internal Medicine, University of Genoa, Italy. Electronic address: stefbert@unige.it.
Papers in Europe PMC - 03Di Rocco M4 papers · 2023
IRCCS Institute Giannina Gaslini, Department of Pediatrics, Unit of Rare Diseases, Genoa, Italy.
Papers in Europe PMC - 04Lipiński P4 papers · 2025
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 05Lopez AM4 papers · 2022
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States. Electronic address: adam.lopez@utsouthwestern.edu.
Papers in Europe PMC - 06Turley SD4 papers · 2022
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States. Electronic address: stephen.turley@utsouthwestern.edu.
Papers in Europe PMC - 07Tylki-Szymańska A4 papers · 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 08Zhang H4 papers · 2025
Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York, New York, USA.
Papers in Europe PMC - 09Balwani M3 papers · 2018
Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address: manisha.balwani@mssm.edu.
Papers in Europe PMC - 10Brassier A3 papers · 2026
Reference Center for Inherited Metabolic Diseases, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris University, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
6 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.
Recruiting or not-yet-recruiting
- NCT01633489·RECRUITING·Lysosomal Acid Lipase (LAL) Deficiency Registry
Conditions: Lysosomal Acid Lipase Deficiency · Cholesterol Ester Storage Disease · Wolman Disease · Acid Cholesteryl Ester Hydrolase Deficiency, Type 2·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.
"Cholesteryl ester storage disease" OR "Cholesterol ester storage disease" OR "LAL deficiency, partial" OR "LIPA deficiency, partial" OR "cholesterol ester hydrolase deficiency, partial" OR "lysosomal acid lipase deficiency, partial"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cholesteryl ester storage disease" OR "Cholesterol ester storage disease" OR "LAL deficiency, partial" OR "LIPA deficiency, partial" OR "cholesterol ester hydrolase deficiency, partial" OR "lysosomal acid lipase deficiency, partial"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 2026-07-27T01:46:20.635Z