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ORPHA:14

Abetalipoproteinemia

low confidenceDisorder

Also known as: Bassen-Kornzweig disease

Publications

1,762

Trials

1

Interventional, condition-specific

Researchers

1,067

Distinct authors in sample

Gene link

MTTP

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, , and neurological and neuromuscular manifestations.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

abetalipoproteinemia · homozygous familial hypobetalipoproteinemia

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

    Definitive — MTTP

  2. LiteraturePresent

    1,762 matched papers (611 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

    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 (MTTP).

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?

1,762

1,762 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.

1,762 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).

611 in the last 10 years · low confidence

Phrase hits: 1,762 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,067

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
    Hegele RA12 papers · 2026

    From the Department of Medicine (R.A.H.), Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

    Papers in Europe PMC
  2. 02
    Tada H9 papers · 2024

    Department of Cardiology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.

    Papers in Europe PMC
  3. 03
    Hussain MM7 papers · 2025

    NYU Winthrop Hospital, 101 Mineola Blvd, Mineola, USA. Electronic address: Mahmood.Hussain@nyulangone.org.

    Papers in Europe PMC
  4. 04
    Peretti N7 papers · 2024

    INSERM U1060, Laboratoire Carmen, Université Lyon 1, INRA U1235, INSA de Lyon, CENS, Centre de Recherche en Nutrition Humaine Rhône Alpes, Villeurbanne F-69621, Oullins cedex, F-69921, France; Service de Nutrition Pediatrique, Gastroenterologie and Hepatologie, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Bron cedex, F-69677, France. Electronic address: noel.peretti@chu-lyon.fr.

    Papers in Europe PMC
  5. 05
    Walker RH5 papers · 2022

    Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA. ruth.walker@mssm.edu

    Papers in Europe PMC
  6. 06
    Chen C4 papers · 2026

    Ningbo Key Laboratory for the Prevention and Treatment of Embryo Original Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China. chencs@139.com.

    Papers in Europe PMC
  7. 07
    Cuerq C4 papers · 2024

    INSERM U1060, Laboratoire Carmen, Université Lyon 1, INRA U1235, INSA de Lyon, CENS, Centre de Recherche en Nutrition Humaine Rhône Alpes, Villeurbanne F-69621, Oullins cedex, F-69921, France; Laboratoire de Biologie Médicale Multi Sites, Centre de Biologie et de Pathologie Sud, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Pierre, Benite cedex, F-69495, France. Electronic address: charlotte.cuerq@chu-lyon.fr.

    Papers in Europe PMC
  8. 08
    Danek A4 papers · 2022

    Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany.

    Papers in Europe PMC
  9. 09
    Di Filippo M4 papers · 2022

    UF Dyslipidemies, Service de Biochimie et Biologie moléculaire Grand Est, GHE, Hospices Civils de Lyon, Bron Cedex, France; Univ-Lyon, CarMeN laboratory, Inserm U1060, INRA U1397, Université Claude Bernard Lyon 1, INSA Lyon, Villeurbanne, France. Electronic address: mathilde.di-filippo@chu-lyon.fr.

    Papers in Europe PMC
  10. 10
    Harada-Shiba M4 papers · 2024

    Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

    Papers 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 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.

None of the matched observational studies is currently listed as 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.

"Abetalipoproteinemia" OR "Bassen-Kornzweig disease" OR "homozygous familial hypobetalipoproteinemia"

Run this search on Europe PMC

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

"Abetalipoproteinemia" OR "Bassen-Kornzweig disease" OR "homozygous familial hypobetalipoproteinemia" OR "MTTP"

Recall-expansion terms: MTTP

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: 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
  • "homozygous familial hypobetalipoproteinemia" also appears on ORPHA:727915
  • Publication count (1762) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:05:47.476Z