Details of Disease

General Information of Disease (ID: DIS53PPW)

Disease Name Trimethylaminuria
Synonyms stale fish syndrome; TMAU; TMAuria; fish malodor syndrome; trimethylaminuria; fish-odor syndrome; fish odor syndrome; fish odour syndrome; trimethylaminuria (disease)
Definition 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.
Disease Hierarchy
DISNZOJ0: Dimethylglycine dehydrogenase deficiency
DIS53PPW: Trimethylaminuria
Disease Identifiers
MONDO ID
MONDO_0011182
MESH ID
C536561
UMLS CUI
C0342739
OMIM ID
602079
MedGen ID
83350
HPO ID
HP:0003614
Orphanet ID
35056
SNOMED CT ID
237959005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FMO2 DEIASEZ moderate Biomarker [1]
FMO3 DEP76YL Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FMO3 OT1G2EV3 Definitive Autosomal recessive [2]
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References

1 Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13).Am J Med Genet. 1993 Feb 1;45(3):335-9. doi: 10.1002/ajmg.1320450310.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.