TMAU
MCID: PRM209
MIFTS: 19

Primary Trimethylaminuria (TMAU)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Primary Trimethylaminuria

MalaCards integrated aliases for Primary Trimethylaminuria:

Name: Primary Trimethylaminuria 24
Fish Odor Syndrome 24
Trimethylaminuria 71
Fmo3 Deficiency 24
Tmauria 24
Tmau 24

Classifications:



External Ids:

UMLS 71 C0342739

Summaries for Primary Trimethylaminuria

MalaCards based summary : Primary Trimethylaminuria, also known as fish odor syndrome, is related to trimethylaminuria and hypothyroidism. An important gene associated with Primary Trimethylaminuria is FMO3 (Flavin Containing Dimethylaniline Monoxygenase 3). Affiliated tissues include testes, liver and tonsil.

GeneReviews: NBK1103

Related Diseases for Primary Trimethylaminuria

Diseases in the Trimethylaminuria family:

Primary Trimethylaminuria

Diseases related to Primary Trimethylaminuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 trimethylaminuria 11.7
2 hypothyroidism 10.1
3 inherited metabolic disorder 10.1
4 abdominal obesity-metabolic syndrome 1 10.0
5 autosomal recessive disease 10.0
6 tonsillitis 10.0
7 diarrhea 10.0
8 adjustment disorder 10.0
9 depression 10.0

Graphical network of the top 20 diseases related to Primary Trimethylaminuria:



Diseases related to Primary Trimethylaminuria

Symptoms & Phenotypes for Primary Trimethylaminuria

Drugs & Therapeutics for Primary Trimethylaminuria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Gastrointestinal and Nutritional Diagnostic Tests as Potential Screening Tools for Metabolic Body Odor and Halitosis Completed NCT02692495
2 Dynamics of the Gut Microbiota in Idiopathic Malodor Production Active, not recruiting NCT03582826

Search NIH Clinical Center for Primary Trimethylaminuria

Genetic Tests for Primary Trimethylaminuria

Anatomical Context for Primary Trimethylaminuria

MalaCards organs/tissues related to Primary Trimethylaminuria:

40
Testes, Liver, Tonsil

Publications for Primary Trimethylaminuria

Articles related to Primary Trimethylaminuria:

(show top 50) (show all 172)
# Title Authors PMID Year
1
Clinical utility gene card for: Trimethylaminuria - update 2014. 61 24
25335494 2015
2
Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. 61 24
24028545 2014
3
Survey of variants of human flavin-containing monooxygenase 3 (FMO3) and their drug oxidation activities. 61 24
23567996 2013
4
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. 61 24
23430919 2012
5
Trimethylaminuria: causes and diagnosis of a socially distressing condition. 61 24
21451776 2011
6
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. 61 24
19321370 2009
7
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. 61 24
17531949 2007
8
Transient trimethylaminuria related to menstruation. 61 24
17257434 2007
9
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. 61 24
16601883 2006
10
Flavin-containing monooxygenase genetic polymorphism: impact on chemical metabolism and drug development. 61 24
16296944 2005
11
Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism. 61 24
15922018 2005
12
Trimethylaminuria (fish-odour syndrome) and oral malodour. 61 24
15752091 2005
13
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. 61 24
15565078 2004
14
Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. 61 24
15043988 2004
15
Trimethylaminuria and a human FMO3 mutation database. 61 24
12938085 2003
16
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. 61 24
12678693 2003
17
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. 61 24
12698036 2003
18
Fish odour syndrome with features of both primary and secondary trimethylaminuria. 61 24
12653714 2003
19
Trimethylaminuria: the fish malodor syndrome. 61 24
11259343 2001
20
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. 61 24
11266081 2001
21
Mild trimethylaminuria caused by common variants in FMO3 gene. 61 24
10485731 1999
22
Transient trimethylaminuria in childhood. 61 24
9846928 1998
23
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. 61 24
9536088 1998
24
Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. 61 24
9398858 1997
25
Structural organization of the human flavin-containing monooxygenase 3 gene (FMO3), the favored candidate for fish-odor syndrome, determined directly from genomic DNA. 61 24
9417913 1997
26
Studies on the discontinuous N-oxidation of trimethylamine among Jordanian, Ecuadorian and New Guinean populations. 61 24
9110361 1997
27
Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3. 24
15564885 2004
28
Two new polymorphisms of the FMO3 gene in Caucasian and African-American populations: comparative genetic and functional studies. 24
12814961 2003
29
Halitosis in medicine: a review. 24
12090453 2002
30
Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression. 24
11809920 2002
31
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 24
11231903 2001
32
Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome. 24
11191884 2000
33
Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency. 24
10896299 2000
34
In vitro and in vivo inhibition of human flavin-containing monooxygenase form 3 (FMO3) in the presence of dietary indoles. 24
10509757 1999
35
Trimethylamine and foetor hepaticus. 24
10423071 1999
36
Isoform specificity of trimethylamine N-oxygenation by human flavin-containing monooxygenase (FMO) and P450 enzymes: selective catalysis by FMO3. 24
9776311 1998
37
Flavin-containing monooxygenase 3 (FMO3): genetic variants and their consequences for drug metabolism and disease. 61
31317802 2020
38
Endovascular Closure Resolves Trimethylaminuria Caused by Congenital Portosystemic Shunts. 61
31777726 2019
39
A case of axillary bromhidrosis secondary to trimethylaminuria successfully treated with microwave-based therapy. 61
31646163 2019
40
Novel variants and haplotypes of human flavin-containing monooxygenase 3 gene associated with Japanese subjects suffering from trimethylaminuria. 61
30351217 2019
41
Genetic variants of flavin-containing monooxygenase 3 (FMO3) derived from Japanese subjects with the trimethylaminuria phenotype and whole-genome sequence data from a large Japanese database. 61
31401033 2019
42
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing. 61
31533761 2019
43
NMR-based newborn urine screening for optimized detection of inherited errors of metabolism. 61
31506554 2019
44
The genetic and biochemical basis of trimethylaminuria in an Irish cohort. 61
31240165 2019
45
[Trimethylaminuria: three different mutations in a single family]. 61
30864455 2019
46
Development and feasibility of the use of an assessment tool measuring treatment efficacy in patients with trimethylaminuria: A mixed methods study. 61
30734325 2019
47
The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor. 61
30720598 2019
48
[Trimethylaminuria: 'Help, my child smells of fish!'] 61
29600922 2018
49
Primary and transitory trimethylaminuria: A report of 2 cases. 61
28743400 2017
50
Inactivation mechanism of N61S mutant of human FMO3 towards trimethylamine. 61
29116146 2017

Variations for Primary Trimethylaminuria

Expression for Primary Trimethylaminuria

Search GEO for disease gene expression data for Primary Trimethylaminuria.

Pathways for Primary Trimethylaminuria

GO Terms for Primary Trimethylaminuria

Sources for Primary Trimethylaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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