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ORPHA:31150

Tangier disease

low confidenceDisorder

Also known as: ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Publications

22,716

Trials

4

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

ABCA1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with multifocal peripheral , corneal, skin and nail and, occasionally, cardiovascular disease.

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 (1)

defective adenosine triphosphate-binding cassette transporter A1

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ABCA1

  2. LiteraturePresent

    22,716 matched papers (14,400 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Dry skin; Hepatosplenomegaly; Left ventricular hypertrophy) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human apolipoprotein A-I in a complex with phospholipids Source

  6. Interventional trialPresent

    4 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 (ABCA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0008783

  • Dry skin
  • Hepatosplenomegaly
  • Left ventricular hypertrophy
  • Syringomyelia
  • Carotid artery stenosis

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant human apolipoprotein A-I in a complex with phospholipidsTreatment of ATP-binding cassette transporter A1 deficiency · 22/08/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0008783

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

22,716

22,716 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.

22,716 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).

14,400 in the last 10 years · low confidence

Phrase hits: 2,092 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

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 RA7 papers · 2024

    Department of Medicine; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada, N6A 5C1.

    Papers in Europe PMC
  2. 02
    Yokoyama S6 papers · 2024

    Institute for Biological Functions, Chubu University.

    Papers in Europe PMC
  3. 03
    Koseki M5 papers · 2024

    Division of Cardiovascular Medicine, Department of Medicine, Osaka University Graduate School of Medicine.

    Papers in Europe PMC
  4. 04
    Ogura M5 papers · 2024

    Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute.

    Papers in Europe PMC
  5. 05
    Harada-Shiba M4 papers · 2024

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

    Papers in Europe PMC
  6. 06
    Tall AR4 papers · 2022

    Division of Molecular Medicine (M.W., P.F., A.E.B., M.M.M., W.W., S.A., N.W., C.L.W., A.R.T.).

    Papers in Europe PMC
  7. 07
    Burnett JR3 papers · 2020

    Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network.

    Papers in Europe PMC
  8. 08
    Couvert P3 papers · 2021

    National Institute for Health and Medical Research (INSERM) UMR_S 1166, Faculty of Medicine Pitie-Salpetriere, 91 Bld de L'Hopital, 75013, Paris, France; Sorbonne University, Paris, France.

    Papers in Europe PMC
  9. 09
    Davidson WS3 papers · 2026

    Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, OH, USA.

    Papers in Europe PMC
  10. 10
    Heinecke JW3 papers · 2026

    Department of Medicine, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Tangier disease — 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.

("Tangier disease" OR "ATP-binding cassette transporter A1 deficiency" OR "Analphalipoproteinemia" OR "defective adenosine triphosphate-binding cassette transporter A1") OR ("ABCA1" OR "ABCA1 syndrome" OR "ABCA1-related")

Run this search on Europe PMC

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

"Tangier disease" OR "ATP-binding cassette transporter A1 deficiency" OR "Analphalipoproteinemia" OR "defective adenosine triphosphate-binding cassette transporter A1"

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: 4 interventional · 1 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 (22716) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:27:29.374Z