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ORPHA:2882

Sitosterolemia

low confidenceDisorder

Also known as: Sisterolemia · Phytosterolemia

Publications

6,134

Trials

10

Interventional, condition-specific

Researchers

1,105

Distinct authors in sample

Gene link

ABCG5, ABCG8

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Sitosterolemia is a rare sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

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)

phytosterolemia · sitosterolemia

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ABCG5, ABCG8

  2. LiteraturePresent

    6,134 matched papers (3,815 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Hypercholesterolemia; Elevated circulating sitosterol concentration; Tendon xanthomatosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    10 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 (ABCG5, ABCG8).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0008863

  • Hypercholesterolemia
  • Elevated circulating sitosterol concentration
  • Tendon xanthomatosis
  • Reticulocytosis
  • Increased circulating lactate dehydrogenase concentration

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

3

Drugs / clinical candidates · MONDO_0008863

CTD chemicals (MyDisease.info)

2 associated chemicals · 10 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ezetimibe · therapeutic
  • Sitosterols · marker/mechanism

Pathways: ABC transporters; Fat digestion and absorption; Bile secretion; ABC transporters in lipid homeostasis; Metabolism; Trafficking of dietary sterols; Transmembrane transport of small molecules; ABC-family proteins mediated transport

MyDisease.info · MONDO:0008863

Literature

Is anyone studying this?

6,134

6,134 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.

6,134 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).

3,815 in the last 10 years · low confidence

Phrase hits: 1,312 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,105

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
    Tada H16 papers · 2026

    Department of Cardiovascular and Internal Medicine, Kanazawa University School of Medicine, Ishikawa, Japan.

    Papers in Europe PMC
  2. 02
    Kawashiri MA9 papers · 2026

    Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Japan.

    Papers in Europe PMC
  3. 03
    Takamura M8 papers · 2025

    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

    Papers in Europe PMC
  4. 04
    Chen Y6 papers · 2025

    Department of Pediatrics, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.

    Papers in Europe PMC
  5. 05
    Alenbawi J5 papers · 2026

    College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.

    Papers in Europe PMC
  6. 06
    Kojima N5 papers · 2024

    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

    Papers in Europe PMC
  7. 07
    Dobashi K4 papers · 2026

    Department of Pediatrics, School of Medicine, University of Yamanashi.

    Papers in Europe PMC
  8. 08
    Nemer G4 papers · 2026

    Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar. gnemer@hbku.edu.qa.

    Papers in Europe PMC
  9. 09
    Nomura A4 papers · 2025

    Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

    Papers in Europe PMC
  10. 10
    Wang H4 papers · 2025

    Department of Pediatric Cardiology, Heart Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 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

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

low confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 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

3 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Sitosterolemia — 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.

("Sitosterolemia" OR "Sisterolemia" OR "Phytosterolemia") OR ("ABCG5" OR "ABCG5 syndrome" OR "ABCG5-related" OR "ABCG8" OR "ABCG8 syndrome" OR "ABCG8-related")

Run this search on Europe PMC

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

"Sitosterolemia" OR "Sisterolemia" OR "Phytosterolemia"

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: 10 interventional · 3 observational · 0 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
  • Publication count (6134) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:32:08.626Z