MCID: TRM004
MIFTS: 41

Trimethylaminuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Trimethylaminuria

MalaCards integrated aliases for Trimethylaminuria:

Name: Trimethylaminuria 54 50 24 25 71 29 13 52 69
Tmau 50 24 25 71
Fish Odor Syndrome 50 24 25
Tmauria 50 24 25
Fish Malodor Syndrome 50 25
Stale Fish Syndrome 50 25
Severe Primary Trimethylaminuria 56
Fish-Odor Syndrome 71
Mesh; D008661 71

Characteristics:

OMIM:

54
Miscellaneous:
offensive fishy body odor

Inheritance:
autosomal recessive


HPO:

32
trimethylaminuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Trimethylaminuria

NIH Rare Diseases : 50 trimethylaminuria is a metabolic disorder that occurs when the body is unable to break down certain nitrogen-containing compounds such as trimethylamine. trimethylamine, which has a fishy odor, is produced in the intestines when certain types of food (i.e. eggs, liver, legumes, fish and some vegetables) are digested. as trimethylamine begins to accumulate in the body, it is released in the sweat, urine, reproductive fluids, and breath. this leads to the characteristic odor of trimethylaminuria. affected individuals do not have other health problems related to the condition, but the unpleasant odor can result in social and psychological problems. trimethylaminuria seems to be more common in women. researchers think this may be due to higher hormone levels aggravating symptoms of the disorder. trimethylaminuria is often caused by changes (mutations) in the fmo3 gene and is inherited in an autosomal recessive manner. although there is no cure, trimethylaminuria can often be managed by reducing the amount of trimethylamine in the body. for example, affected people can modify their diet to avoid foods with high levels of trimethylamine. last updated: 1/24/2017

MalaCards based summary : Trimethylaminuria, also known as tmau, is related to primary trimethylaminuria and currarino syndrome, and has symptoms including neutropenia, splenomegaly and anemia. An important gene associated with Trimethylaminuria is FMO3 (Flavin Containing Monooxygenase 3), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. Affiliated tissues include liver and testes.

UniProtKB/Swiss-Prot : 71 Trimethylaminuria: Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino- trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine.

Genetics Home Reference : 25 Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.

OMIM : 54
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). (602079)

Wikipedia : 72 Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor... more...

Related Diseases for Trimethylaminuria

Diseases in the Trimethylaminuria family:

Primary Trimethylaminuria

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

id Related Disease Score Top Affiliating Genes
1 primary trimethylaminuria 11.8
2 currarino syndrome 9.8
3 prader-willi syndrome 9.8
4 epilepsy 9.8
5 delusional disorder 9.8
6 homocystinuria 9.8

Graphical network of the top 20 diseases related to Trimethylaminuria:



Diseases related to Trimethylaminuria

Symptoms & Phenotypes for Trimethylaminuria

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
large amounts of tma in urine, sweat, and breath
deficiency of fmo-mediated n-oxidation of amino-trimethylamine (tma) derived from foodstuffs
trimethylaminuria

Neurologic- Behavioral Psychiatric Manifestations:
psychosocial problems in school
suicidal
depression

Cardiovascular- Vascular:
hypertension, severe, after eating cheese (in some patients)

Hematology:
neutropenia in some patients)
anemia (in some patients)

Respiratory- Lung:
pulmonary infections (in some patients)

Cardiovascular- Heart:
tachycardia after eating cheese (in some patients)


Clinical features from OMIM:

602079

Human phenotypes related to Trimethylaminuria:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 splenomegaly 32 HP:0001744
3 anemia 32 HP:0001903
4 depression 32 HP:0000716
5 tachycardia 32 HP:0001649
6 hypertension 32 HP:0000822
7 trimethylaminuria 32 HP:0003614
8 recurrent pneumonia 32 HP:0006532

Drugs & Therapeutics for Trimethylaminuria

Search Clinical Trials , NIH Clinical Center for Trimethylaminuria

Genetic Tests for Trimethylaminuria

Genetic tests related to Trimethylaminuria:

id Genetic test Affiliating Genes
1 Trimethylaminuria 29 24 FMO3

Anatomical Context for Trimethylaminuria

MalaCards organs/tissues related to Trimethylaminuria:

39
Liver, Testes

Publications for Trimethylaminuria

Articles related to Trimethylaminuria:

(show top 50) (show all 80)
id Title Authors Year
1
Primary and transitory trimethylaminuria: A report of 2 cases. ( 28743400 )
2017
2
First case of Currarino Syndrome and Trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )
2016
3
Trimethylaminuria. ( 27118741 )
2016
4
Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria. ( 28649550 )
2015
5
Fish odor syndrome: a case report of trimethylaminuria. ( 24456963 )
2014
6
Clinical utility gene card for: Trimethylaminuria - update 2014. ( 25335494 )
2014
7
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. ( 25288227 )
2014
8
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. ( 23821320 )
2014
9
Relationships between flavin-containing monooxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. ( 24028545 )
2013
10
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. ( 23791655 )
2013
11
A Review of Trimethylaminuria: (Fish Odor Syndrome). ( 24307925 )
2013
12
Archaebiotics: Proposed therapeutic use of archaea to prevent trimethylaminuria and cardiovascular disease. ( 24247281 )
2013
13
FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor. ( 23266626 )
2013
14
Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria. ( 23719328 )
2013
15
Clinical utility gene card for: trimethylaminuria. ( 22126753 )
2012
16
Trimethylaminuria (fish malodour syndrome) in chronic renal failure. ( 23930066 )
2012
17
Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 22819296 )
2012
18
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. ( 21276117 )
2012
19
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. ( 23430919 )
2012
20
Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. ( 21851918 )
2011
21
Trimethylaminuria: causes and diagnosis of a socially distressing condition. ( 21451776 )
2011
22
Epilepsy and trimethylaminuria: A new case report and literature review. ( 20970269 )
2011
23
Bonitos with low content of malodorous trimethylamine as palliative care for self-reported Japanese trimethylaminuria subjects. ( 20045990 )
2009
24
A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. ( 19577495 )
2009
25
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. ( 19321370 )
2009
26
Trimethylaminuria (fish malodour syndrome): a "benign" genetic condition with major psychosocial sequelae. ( 18928446 )
2008
27
Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients. ( 17584019 )
2007
28
Trimethylaminuria (fish-odor syndrome): a case report. ( 17224546 )
2007
29
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. ( 17531949 )
2007
30
Transient trimethylaminuria related to menstruation. ( 17257434 )
2007
31
Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ( 17510942 )
2007
32
Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 16996766 )
2007
33
Smelling like dead fish: a case of trimethylaminuria in an adolescent. ( 17041178 )
2006
34
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. ( 16600650 )
2006
35
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. ( 16601883 )
2006
36
Trimethylaminuria (fish-odour syndrome) and oral malodour. ( 15752091 )
2005
37
Mild trimethylaminuria observed in a Japanese cohort with liver damage. ( 15989923 )
2005
38
Diagnosis of suspected trimethylaminuria by NMR spectroscopy. ( 15563884 )
2005
39
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. ( 15565078 )
2004
40
Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. ( 15043988 )
2004
41
Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. ( 12893987 )
2003
42
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. ( 12698036 )
2003
43
Trimethylaminuria and a human FMO3 mutation database. ( 12938085 )
2003
44
Fish odour syndrome with features of both primary and secondary trimethylaminuria. ( 12653714 )
2003
45
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. ( 12678693 )
2003
46
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. ( 11266081 )
2001
47
Trimethylaminuria: the fish malodor syndrome. ( 11259343 )
2001
48
Mild trimethylaminuria caused by common variants in FMO3 gene. ( 10485731 )
1999
49
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. ( 10479479 )
1999
50
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. ( 10338091 )
1999

Variations for Trimethylaminuria

UniProtKB/Swiss-Prot genetic disease variations for Trimethylaminuria:

71
id Symbol AA change Variation ID SNP ID
1 FMO3 p.Met66Ile VAR_002423 rs72549323
2 FMO3 p.Pro153Leu VAR_002424 rs72549326
3 FMO3 p.Arg492Trp VAR_008145 rs72549334
4 FMO3 p.Ala52Thr VAR_008146 rs72549321
5 FMO3 p.Arg387Leu VAR_008147 rs72549331
6 FMO3 p.Glu32Lys VAR_037306 rs72549320
7 FMO3 p.Asn61Ser VAR_037307 rs72549322
8 FMO3 p.Met434Ile VAR_037308 rs72549332

ClinVar genetic disease variations for Trimethylaminuria:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 FMO3 NM_006894.5(FMO3): c.913G> T (p.Glu305Ter) single nucleotide variant Pathogenic rs61753344 GRCh37 Chromosome 1, 171083232: 171083232
2 FMO3 NM_001002294.2(FMO3): c.198G> T (p.Met66Ile) single nucleotide variant Pathogenic rs72549323 GRCh37 Chromosome 1, 171072991: 171072991
3 FMO3 NM_001002294.2(FMO3): c.154G> A (p.Ala52Thr) single nucleotide variant Pathogenic rs72549321 GRCh37 Chromosome 1, 171072947: 171072947
4 FMO3 NM_006894.5(FMO3): c.458C> T (p.Pro153Leu) single nucleotide variant Pathogenic rs72549326 GRCh37 Chromosome 1, 171076952: 171076952
5 FMO3 NM_006894.5(FMO3): c.1474C> T (p.Arg492Trp) single nucleotide variant Pathogenic/Likely pathogenic rs72549334 GRCh37 Chromosome 1, 171086457: 171086457
6 FMO3 NM_001002294.2(FMO3): c.1160G> T (p.Arg387Leu) single nucleotide variant Pathogenic rs72549331 GRCh37 Chromosome 1, 171083479: 171083479
7 FMO3 NM_001002294.2(FMO3): c.940G> T (p.Glu314Ter) single nucleotide variant Pathogenic rs72549330 GRCh37 Chromosome 1, 171083259: 171083259
8 FMO3 NM_006894.5(FMO3): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic rs72549322 GRCh37 Chromosome 1, 171072975: 171072975
9 FMO3 NM_001002294.2(FMO3): c.1302G> A (p.Met434Ile) single nucleotide variant Pathogenic rs72549332 GRCh37 Chromosome 1, 171086285: 171086285
10 FMO3 FMO3, 2-EX DEL deletion Pathogenic
11 FMO3 NM_001002294.2(FMO3): c.94G> A (p.Glu32Lys) single nucleotide variant Pathogenic rs72549320 GRCh37 Chromosome 1, 171061893: 171061893
12 FMO3 FMO3, 1-BP DEL, 191A deletion Pathogenic
13 FMO3 NM_006894.5(FMO3): c.591_592delTG (p.Cys197Terfs) deletion Pathogenic rs3832024 GRCh37 Chromosome 1, 171077326: 171077327

Expression for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.

Pathways for Trimethylaminuria

Pathways related to Trimethylaminuria according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 FMO1 FMO2 FMO3 FMO4 FMO5
2
Show member pathways
11.94 FMO1 FMO2 FMO3 FMO4 FMO5
3
Show member pathways
11.11 FMO1 FMO3
4
Show member pathways
10.66 FMO1 FMO2 FMO3 FMO4 FMO5
5
Show member pathways
10.49 FMO3 FMO5

GO Terms for Trimethylaminuria

Cellular components related to Trimethylaminuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.72 FMO1 FMO2 FMO3 FMO4 FMO5
2 endoplasmic reticulum GO:0005783 9.65 FMO1 FMO2 FMO3 FMO4 FMO5
3 endoplasmic reticulum membrane GO:0005789 9.55 FMO1 FMO2 FMO3 FMO4 FMO5
4 intracellular membrane-bounded organelle GO:0043231 9.35 FMO1 FMO2 FMO3 FMO4 FMO5
5 organelle membrane GO:0031090 9.02 FMO1 FMO2 FMO3 FMO4 FMO5

Biological processes related to Trimethylaminuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 xenobiotic metabolic process GO:0006805 9.43 FMO1 FMO2 FMO3
2 drug metabolic process GO:0017144 9.37 FMO1 FMO2
3 toxin metabolic process GO:0009404 9.32 FMO1 FMO2
4 organic acid metabolic process GO:0006082 9.16 FMO1 FMO2
5 oxidation-reduction process GO:0055114 9.02 FMO1 FMO2 FMO3 FMO4 FMO5
6 NADPH oxidation GO:0070995 8.96 FMO1 FMO2

Molecular functions related to Trimethylaminuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 FMO1 FMO2 FMO3 FMO4 FMO5
2 monooxygenase activity GO:0004497 9.56 FMO1 FMO2 FMO3 FMO4
3 flavin adenine dinucleotide binding GO:0050660 9.55 FMO1 FMO2 FMO3 FMO4 FMO5
4 NADP binding GO:0050661 9.35 FMO1 FMO2 FMO3 FMO4 FMO5
5 N,N-dimethylaniline monooxygenase activity GO:0004499 9.02 FMO1 FMO2 FMO3 FMO4 FMO5

Sources for Trimethylaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....