ORPHA:425
Apolipoprotein A-I deficiency
Also known as: ApoA-I deficiency · Familial apoA-I deficiency · Familial hypoalphalipoproteinemia
Publications
362
59.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,086
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
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.
Additional Mondo synonyms (2)
familial apoA-I deficiency · familial hypoalphalipoproteinemia
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
362 matched papers (116 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationPartial
1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human apolipoprotein A-I in a complex with phospholipids Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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 2026-07-27
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)
1
Designation · no FDA orphan-indication approval yet
- EMA recombinant human apolipoprotein A-I in a complex with phospholipidsTreatment of apolipoprotein A-I deficiency · 22/08/2014 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
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?
362
362 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=3967) is 59.
362 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).
116 in the last 10 years · medium confidence · 59.1th percentile (publications denominator)
Phrase hits: 362 · MeSH hits: 0
Who's working on it?
1,086
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.
- 01Schaefer EJ11 papers · 2023
Lipid Metabolism Section, Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging, Tufts University, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Hegele RA10 papers · 2023
Department of Medicine; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.
Papers in Europe PMC - 03Kastelein JJ10 papers · 2017
Department of Medical Genetics, University Hospital, University of British Columbia, Canada.
Papers in Europe PMC - 04Asztalos BF9 papers · 2018
Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA 02111.
Papers in Europe PMC - 05Hayden MR8 papers · 2015
Translational Laboratory in Genetic Medicine, Agency for Science Technology and Research (ASTAR) and National University of Singapore, Singapore Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Papers in Europe PMC - 06Santos RD8 papers · 2024
Lipid Clinic and Lipid Metabolism Laboratory, Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil. raul.santos@incor.usp.br
Papers in Europe PMC - 07Hovingh GK6 papers · 2015
Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 08DASSEUX JEAN-LOUIS5 papers · 2006Papers in Europe PMC
- 09Remaley AT5 papers · 2025
Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, NHLBI, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 10ZHU LINGYU5 papers · 2006Papers in Europe PMC
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 9 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
medium confidence · 80.1th 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.
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 2026-07-27
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 Apolipoprotein A-I deficiency — check Associations / patient organisations on that page.
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.
"Apolipoprotein A-I deficiency" OR "ApoA-I deficiency" OR "Familial apoA-I deficiency" OR "Familial hypoalphalipoproteinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Apolipoprotein A-I deficiency" OR "ApoA-I deficiency" OR "Familial apoA-I deficiency" OR "Familial hypoalphalipoproteinemia"
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 · 0 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
- Publication count (362) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T02:19:15.543Z