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ORPHA:468726

Severe primary trimethylaminuria

low confidenceDisorder

Also known as: TMAU

Publications

3,024

Trials

0

Interventional, condition-specific

Researchers

87

Distinct authors in sample

Gene link

FMO3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — FMO3

  2. LiteraturePresent

    3,024 matched papers (2,173 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Fish odor; Trimethylaminuria; Anxiety) 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 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 (FMO3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0018767

  • Fish odor
  • Trimethylaminuria
  • Anxiety
  • Anemia
  • Hypertension

Showing 5 of 18 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • trimethylamine · marker/mechanism
  • trimethyloxamine · marker/mechanism

Pathways: Drug metabolism - cytochrome P450; Metabolism; Biological oxidations; Phase 1 - Functionalization of compounds; FMO oxidises nucleophiles

MyDisease.info · MONDO:0018767

Literature

Is anyone studying this?

3,024

3,024 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=3967) is 59.

3,024 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).

2,173 in the last 10 years · low confidence

Phrase hits: 2 · MeSH hits: 15

Open Europe PMC search

Who's working on it?

87

Distinct author names in 17 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.

  1. 01
    Phillips IR2 papers · 2015

    1] Institute of Structural and Molecular Biology, University College London, London, UK [2] School of Biological and Chemical Sciences, Queen Mary University of London, London, UK.

    Papers in Europe PMC
  2. 02
    Shephard EA2 papers · 2015

    Institute of Structural and Molecular Biology, University College London, London, UK.

    Papers in Europe PMC
  3. 03
    Treacy EP2 papers · 2015

    1] National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland [2] Trinity College, Dublin, Ireland.

    Papers in Europe PMC
  4. 04
    Abbott KA1 paper · 2019

    Nutraceuticals Research Program, School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia.

    Papers in Europe PMC
  5. 05
    Alberti AM1 paper · 2025

    Medicine School, Federal University of Health Sciences, Porto Alegre, Brazil.

    Papers in Europe PMC
  6. 06
    Alburikan KA1 paper · 2019

    Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Alkofide HA1 paper · 2019

    Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Arumugasamy SK1 paper · 2026

    School of Chemical, Biological and Battery Engineering, Gachon University, Seongnam, 13120, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Autrup H1 paper · 2010
    Papers in Europe PMC
  10. 10
    Balskus EP1 paper · 2020

    Department of Chemistry and Chemical Biology, Harvard University, 12 Oxford Street, Cambridge, Massachusetts 02138, United States.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Broader category trimethylaminuria also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: trimethylaminuria

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 2026-07-30

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 Severe primary trimethylaminuria — 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.

("Severe primary trimethylaminuria") OR (MESH:"Trimethylaminuria") OR ("FMO3" OR "FMO3 syndrome" OR "FMO3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Trimethylaminuria

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

"Severe primary trimethylaminuria" OR "Trimethylaminuria"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"trimethylaminuria"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TMAU

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3024) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T17:05:23.789Z