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ORPHA:412

Dysbetalipoproteinemia

medium confidenceDisorder

Also known as: Broad-beta disease · Familial dyslipidemia type 3 · HLP type 3 · Hyperlipidemia type 3 · Hyperlipoproteinemia type 3 · Remnant hyperlipoproteinemia

Publications

1,633

91.1th percentile

Trials

18

Interventional, condition-specific

Researchers

935

Distinct authors in sample

Gene link

APOE

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of atherosclerosis and premature cardiovascular disease.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

Broad-betalipoproteinemia · dyslipidaemia type 3 · dyslipidemia type 3 · familial dysbetalipoproteinemia · familial hyperlipoproteinemia type 3 · hyperlipidemia type 3 · hyperlipoproteinemia type III · remnant disease

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.

  1. Gene identifiedPresent

    Strong — APOE

  2. LiteraturePresent

    1,633 matched papers (575 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (APOE).

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?

1,633

1,633 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.

1,633 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).

575 in the last 10 years · medium confidence · 91.1th percentile (publications denominator)

Phrase hits: 1,633 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

935

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.

  1. 01
    Marais AD13 papers · 2023

    Division of Chemical Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

    Papers in Europe PMC
  2. 02
    Koopal C11 papers · 2023

    Department of Vascular Medicine, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

    Papers in Europe PMC
  3. 03
    Baass A9 papers · 2025

    Lipids, Nutrition and Cardiovascular Prevention Clinic of the Montreal Clinical Research Institute, Québec, Canada; Divisions of Experimental Medicine and Medical Biochemistry, Department of Medicine, McGill University, Québec, Canada. Electronic address: alexis.baass@ircm.qc.ca.

    Papers in Europe PMC
  4. 04
    Hegele RA8 papers · 2025

    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St, London, ON, N6A 5C1, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON, N6A 5B7, Canada. Electronic address: hegele@robarts.ca.

    Papers in Europe PMC
  5. 05
    Paquette M8 papers · 2025

    Lipids, Nutrition and Cardiovascular Prevention Clinic of the Montreal Clinical Research Institute, Québec, Canada.

    Papers in Europe PMC
  6. 06
    Drapkina OM7 papers · 2026

    National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

    Papers in Europe PMC
  7. 07
    Ershova AI7 papers · 2026

    Laboratory of Clinomics, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

    Papers in Europe PMC
  8. 08
    Heidemann BE7 papers · 2023

    Department of Vascular Medicine, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

    Papers in Europe PMC
  9. 09
    Kiseleva AV7 papers · 2026

    Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

    Papers in Europe PMC
  10. 10
    Meshkov AN7 papers · 2026

    Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

18 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.1th percentile).

medium confidence · 94.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

15 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Dysbetalipoproteinemia" OR "Broad-beta disease" OR "Familial dyslipidemia type 3" OR "HLP type 3" OR "Hyperlipidemia type 3" OR "Hyperlipoproteinemia type 3" OR "Remnant hyperlipoproteinemia" OR "Broad-betalipoproteinemia" OR "dyslipidaemia type 3" OR "dyslipidemia type 3" OR "familial dysbetalipoproteinemia" OR "familial hyperlipoproteinemia type 3" OR "hyperlipoproteinemia type III" OR "remnant disease"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Dysbetalipoproteinemia" OR "Broad-beta disease" OR "Familial dyslipidemia type 3" OR "HLP type 3" OR "Hyperlipidemia type 3" OR "Hyperlipoproteinemia type 3" OR "Remnant hyperlipoproteinemia" OR "Broad-betalipoproteinemia" OR "dyslipidaemia type 3" OR "dyslipidemia type 3" OR "familial dysbetalipoproteinemia" OR "familial hyperlipoproteinemia type 3" OR "hyperlipoproteinemia type III" OR "remnant disease" OR "APOE"

Recall-expansion terms: APOE

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: 18 interventional · 15 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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

Ingested 2026-07-26T13:45:57.364Z