ORPHA:71
Chylomicron retention disease
Also known as: Anderson disease · CMRD · CRD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
348
76.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,013
Distinct authors in sample
Gene link
SAR1B
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, , growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
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:0009528
- MeSH:C535460
- OMIM:246700
- UMLS:C0795956
Additional Mondo synonyms (1)
chylomicron retention 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SAR1B
- LiteraturePresent
348 matched papers (177 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SAR1B).
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?
348
348 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.
348 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).
177 in the last 10 years · medium confidence · 76.6th percentile (publications denominator)
Phrase hits: 348 · MeSH hits: 0
Who's working on it?
1,013
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Levy E17 papers · 2024
Division of Gastroenterology-Nutrition, Hôpital Sainte-Justine, Montreal, Que.
Papers in Europe PMC - 02Peretti N15 papers · 2024
INSERM U1060, INRA UMR 1397, INSA-Lyon, CarMeN Laboratory, Université Lyon 1, 60310 Pierre-Benite, France.
Papers in Europe PMC - 03Spahis S9 papers · 2024
Research Center, Sainte-Justine UHC, Montreal, Quebec, Canada, H3T 1C5; Department of Nutrition, Université de Montréal, Montreal, Quebec, Canada, H3T 1J4.
Papers in Europe PMC - 04Hegele RA7 papers · 2023
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St, London, ON, N6A 5B7, Canada. hegele@robarts.ca.
Papers in Europe PMC - 05Lachaux A7 papers · 2021
INSERM U1060, INRA UMR 1397, INSA-Lyon, CarMeN Laboratory, Université Lyon 1, Lyon, France.
Papers in Europe PMC - 06Cuerq C6 papers · 2024
Biochemistry Department, Hospices Civils de Lyon, 69495 Pierre-Benite , France.
Papers in Europe PMC - 07
- 08Tarugi P6 papers · 2022
Department of Biomedical Sciences, University of Modena e Reggio Emilia, Via Campi 287, I-41100 Modena, Italy. tarugi@unimore.it
Papers in Europe PMC - 09Wang X6 papers · 2025
Department of Gastroenterology, Jiashi County People's Hospital of Kashgar Prefecture, Kashgar, Xinjiang, China.
Papers in Europe PMC - 10Chen XW5 papers · 2024
The State Key Laboratory of Membrane Biology, Center for Life Sciences and Institute of Molecular Medicine, Peking University, Beijing 100101, China; xiaowei_chen@pku.edu.cn ganzj@nju.edu.cn.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Chylomicron retention disease" OR "Anderson disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chylomicron retention disease" OR "Anderson disease" OR "SAR1B"
Recall-expansion terms: SAR1B
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CMRD; CRD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:18:17.130Z