Details of Disease | DrugMAP

General Information of Disease (ID: DISSFTMR)

Disease Name	Severe primary trimethylaminuria
Synonyms	fish-odor syndrome; fish odor syndrome; fish odour syndrome; stale fish syndrome; TMAU; TMAuria; fish malodor syndrome; trimethylaminuria
Definition	Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.
Disease Hierarchy	DIS53PPW: Trimethylaminuria DISSFTMR: Severe primary trimethylaminuria
Disease Identifiers	MONDO ID MONDO_0018767 UMLS CUI C5575503 MedGen ID 1814174 Orphanet ID 468726 SNOMED CT ID 1237339005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FMO3	DEP76YL	Strong	Autosomal recessive	[1]
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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	Strong	Autosomal recessive	[1]
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References

1	Primary Trimethylaminuria. 2007 Oct 8 [updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.