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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

109,689

99.6th percentile

Trials

3

Interventional, condition-specific

Researchers

935

Distinct authors in sample

Gene link

APOE

Strong

Readiness

4/6

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — APOE

  2. LiteraturePresent

    109,689 matched papers (72,310 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Abnormality of the skin; Hypertriglyceridemia; Hypercholesterolemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Yes — we know a specific gene responsible (APOE).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0018473

  • Abnormality of the skin
  • Hypertriglyceridemia
  • Hypercholesterolemia
  • Eruptive xanthomas
  • Corneal arcus

Showing 5 of 26 — open Monarch for the full list.

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 2026-07-29

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0018473

CTD chemicals (MyDisease.info)

3 associated chemicals · 27 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Fibric Acids · therapeutic
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors · therapeutic
  • Niacin · therapeutic

Pathways: PPAR signaling pathway; Endocytosis; Alzheimer's disease; Metabolism; Signal Transduction; LDL-mediated lipid transport; Chylomicron-mediated lipid transport; Lipoprotein metabolism

MyDisease.info · MONDO:0018473

Literature

Is anyone studying this?

109,689

109,689 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

109,689 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).

72,310 in the last 10 years · medium confidence · 99.6th 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?

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 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

medium confidence · 86.7th 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

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.

Open the complete matched 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (4)

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 Dysbetalipoproteinemia — check Associations / patient organisations on that page.

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") OR ("APOE" OR "APOE syndrome" OR "APOE-related")

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"

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 · 1 observational · 1 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 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