Trimethylaminuria

Preferred Label : Trimethylaminuria;

Symbol : TMAU;

CISMeF acronym : TMAU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fish-odor syndrome;

Description : Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the flavin-containing monooxygenase 3 gene (FMO3, 136132.0001);

Laboratory abnormalities : Large amounts of TMA in urine, sweat, and breath; Trimethylaminuria; Deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs;

Prefixed ID : #602079;

Details

Origin ID

602079;

UMLS CUI

C0342739;

Automatic exact mappings (from CISMeF team)
- FMO3 wt Allele [NCIt concept]
- Other specified metabolic disorders [ICD-10 Sub-category (who)]
- Severe primary trimethylaminuria [ORDO Disease]
Currated CISMeF NLP mapping
- Trimethylaminuria [ICD-11 Subcategory]
- Trimethylaminuria [PASCAL descriptor]
- Trimethylaminuria [HPO term]
- Trimethylaminuria [MedDRA Preferred Term]
- Trimethylaminuria [MeSH concept]
- Trimethylaminuria [ORDO Disease]
- Trimethylaminuria (disorder) [SNOMED CT concept]
- trimethylaminuria [DO Concept]
- trimethylaminuria [MeSH Supplementary Concept]
DO Cross reference
- trimethylaminuria [DO Concept]
Genes related to phenotype
- Flavin-containing dimethylaniline monooxygenase 3 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depression [HPO term]
- Hypertension [HPO term]
- Neutropenia [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Splenomegaly [HPO term]
- Tachycardia [HPO term]
- Trimethylaminuria [HPO term]
ORDO concept(s)
- Severe primary trimethylaminuria [ORDO Disease]
- Trimethylaminuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trimethylaminuria [MedDRA Preferred Term]
- Trimethylaminuria [ORDO Disease]
- Trimethylaminuria [MeSH concept]
- Trimethylaminuria [HPO term]
- Trimethylaminuria [ICD-11 Subcategory]
- Trimethylaminuria [PASCAL descriptor]
- Trimethylaminuria (disorder) [SNOMED CT concept]
- trimethylaminuria [MeSH Supplementary Concept]
- trimethylaminuria [DO Concept]

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