ORPHA:650
LCAT deficiency
Also known as: Lecithin-cholesterol acyltransferase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,147
Trials
1
Interventional, condition-specific
Researchers
1,159
Distinct authors in sample
Gene link
DTHD1, LCAT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018999
- UMLS:C5779633
Additional Mondo synonyms (1)
lecithin-cholesterol acyltransferase deficiency
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DTHD1, LCAT
- LiteraturePresent
1,147 matched papers (372 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
1 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?
Yes — we know a specific gene responsible (DTHD1, LCAT).
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?
1,147
1,147 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.
1,147 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).
372 in the last 10 years · low confidence
Phrase hits: 1,147 · MeSH hits: 0
Who's working on it?
1,159
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.
- 01Calabresi L21 papers · 2026
Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, 20133 Milano, Italy.
Papers in Europe PMC - 02Kuroda M17 papers · 2026
Center for Advanced Medicine, Chiba University Hospital, Chiba University.
Papers in Europe PMC - 03Ossoli A14 papers · 2026
Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 04Pavanello C14 papers · 2026
Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 05Yokote K12 papers · 2026
Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba University.
Papers in Europe PMC - 06Franceschini G8 papers · 2018
Section of Chemical and Biomolecular Sciences, DeFENS, Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 07Simonelli S8 papers · 2021
Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy.
Papers in Europe PMC - 08Bujo H7 papers · 2021
From the Department of Genome Research and Clinical Application, Graduate School of Medicine (M.K., S.A., Y.A., H.B.) and Center for Advanced Medicine, Chiba University Hospital (M.K.), Chiba University, Chiba, Japan; Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (A.G.H., E.S.G.S.); Department of Nephrology in Internal Medicine, Kitasato University Hospital, Sagamihara, Japan (K.K.); Department of Internal Medicine and Molecular Science, Osaka University Graduate School of Medicine, Suita, Japan (S.Y.); Division of Endocrinology and Metabolism, Department of Medicine, Diabetes Center, Jichi Medical University, Shimotsuke, Japan (S.I.); Chiba University, Chiba, Japan (Y.S.); and Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Japan (H.B.). hideaki.bujo@med.toho-u.ac.jp.
Papers in Europe PMC - 09Maezawa Y7 papers · 2026
Department of Endocrinology, Hematology, and Gerontology, Chiba University, Graduates School of Medicine and Department of Diabetes, Metabolism, and Endocrinology, Chiba University Hospital, 2608670 Chiba, Japan.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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
2 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
- NCT06217588·RECRUITING·LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
Conditions: LCAT Deficiency·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.
"LCAT deficiency" OR "Lecithin-cholesterol acyltransferase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"LCAT deficiency" OR "Lecithin-cholesterol acyltransferase deficiency" OR "DTHD1" OR "LCAT"
Recall-expansion terms: DTHD1, LCAT
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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1147) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:44:55.718Z