severe primary trimethylaminuria
MONDO:0018767Mondo
Findings
No curated finding names severe primary trimethylaminuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.
Definition from the Mondo Disease Ontology (MONDO:0018767), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fish odorHPOHP:0410020
- Obligate (100% of cases)
- TrimethylaminuriaHPOHP:0003614
- Very frequent (80% to 99% of cases)
- Dysregulated negative emotional stateHPOHP:0031467
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Low self-esteemHPOHP:0031469
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- AnxietyHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FMO3HGNC:3771
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of