ORPHA:530849
Familial apolipoprotein A5 deficiency
Also known as: Familial APOA5 deficiency · Familial apolipoprotein A-V deficiency
Publications
21
29.7th percentile
Trials
2
Interventional, condition-specific
Researchers
145
Distinct authors in sample
Gene link
APOA5
Strong
Readiness
3/6
Stages with a signal
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:0007762
- MeSH:D006954
- OMIM:144650
- UMLS:C0020481
Additional Mondo synonyms (5)
HLP type 5 · familial APOA5 deficiency · familial apolipoprotein A-V deficiency · familial apolipoprotein A5 deficiency · major hyperlipidemia
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
Strong — APOA5
- LiteraturePresent
21 matched papers (12 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
2 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 (APOA5).
GenCC classification: Strong.
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?
21
21 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.
21 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 20 · MeSH hits: 1
Who's working on it?
145
Distinct author names in 21 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.
- 01Hegele RA6 papers · 2025
Department of Medicine, Robarts Research Institute, Western University, London, Ontario, Canada.
Papers in Europe PMC - 02Wang J4 papers · 2026
The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China.
Papers in Europe PMC - 03Ban MR2 papers · 2011Papers in Europe PMC
- 04Cao H2 papers · 2011Papers in Europe PMC
- 05Ginsberg HN2 papers · 2020
Irving Institute for Clinical and Translational Medicine, Vagelos College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, USA.
Papers in Europe PMC - 06Huff MW2 papers · 2011Papers in Europe PMC
- 07Johansen CT2 papers · 2011
Department of Biochemistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 5K8, Canada.
Papers in Europe PMC - 08Kathiresan S2 papers · 2011Papers in Europe PMC
- 09Kennedy BA2 papers · 2011Papers in Europe PMC
- 10Yusuf S2 papers · 2011Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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
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.
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.
"Familial apolipoprotein A5 deficiency" OR "Familial APOA5 deficiency" OR "Familial apolipoprotein A-V deficiency" OR "HLP type 5" OR "major hyperlipidemia"
MeSH descriptor terms unioned into the query: Hyperlipoproteinemia Type V
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial apolipoprotein A5 deficiency" OR "Familial APOA5 deficiency" OR "Familial apolipoprotein A-V deficiency" OR "HLP type 5" OR "major hyperlipidemia" OR "Hyperlipoproteinemia Type V" OR "APOA5"
Recall-expansion terms: APOA5
Interventional trials matched via: mesh, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 2026-07-27T18:09:04.751Z