TMAU
MCID: TRM004
MIFTS: 46

Trimethylaminuria (TMAU)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Trimethylaminuria

MalaCards integrated aliases for Trimethylaminuria:

Name: Trimethylaminuria 56 12 74 52 25 73 36 29 13 54 6 43 15 71
Tmau 56 52 25 58 73
Fish-Odor Syndrome 56 12 73
Fish Malodor Syndrome 52 25
Stale Fish Syndrome 52 25
Fish Odor Syndrome 52 25
Tmauria 52 25
Severe Primary Trimethylaminuria 58
Trimethylaminuria ) 39
Mesh; D008661 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
offensive fishy body odor


HPO:

31
trimethylaminuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080361
OMIM 56 602079
KEGG 36 H01234
MeSH 43 C536561
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA468726
MedGen 41 C0342739
UMLS 71 C0342739

Summaries for Trimethylaminuria

NIH Rare Diseases : 52 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.

MalaCards based summary : Trimethylaminuria, also known as tmau, is related to primary trimethylaminuria and noonan syndrome 1. An important gene associated with Trimethylaminuria is FMO3 (Flavin Containing Dimethylaniline Monoxygenase 3), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Affiliated tissues include liver and testes, and related phenotypes are splenomegaly and anemia

Disease Ontology : 12 An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has material basis in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.

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 : 56 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)

KEGG : 36 Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion of trimethylamine (TMA) in the breath, sweat, urine, and reproductive fluids. Primary TMAU is most often caused by a functional defect of flavin mono-oxygenase 3 (FMO3), and the genetic disorder is inherited in an autosomal recessive manner as a consequence of mutations in the FMO3 gene. Secondary TMAU has been described in patients with severe liver disease (which is the major site of activity of the FMO3 enzyme) and chronic renal disease (as a consequence of bacterial overgrowth in the gut), and in patients treated with large doses of betaine or possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic... 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:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 primary trimethylaminuria 12.5
2 noonan syndrome 1 10.2
3 abdominal obesity-metabolic syndrome 1 10.2
4 autosomal recessive disease 10.2
5 prader-willi syndrome 10.1
6 currarino syndrome 10.1
7 enterocolitis 10.1
8 visual epilepsy 10.1
9 hypothyroidism 10.1
10 epilepsy 10.1
11 liver disease 10.1
12 uremia 10.1
13 kidney disease 10.1
14 inherited metabolic disorder 10.1
15 delusional disorder 10.1
16 learning disability 10.1
17 homocystinuria 10.1
18 pseudo-turner syndrome 10.1
19 seizure disorder 10.1
20 congenital portosystemic shunt 10.1
21 tonsillitis 10.0
22 diarrhea 10.0
23 adjustment disorder 10.0
24 depression 10.0
25 choline deficiency disease 9.4 NR1H4 FMO3 CHDH

Graphical network of the top 20 diseases related to Trimethylaminuria:



Diseases related to Trimethylaminuria

Symptoms & Phenotypes for Trimethylaminuria

Human phenotypes related to Trimethylaminuria:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 anemia 31 HP:0001903
3 hypertension 31 HP:0000822
4 depressivity 31 HP:0000716
5 neutropenia 31 HP:0001875
6 recurrent pneumonia 31 HP:0006532
7 tachycardia 31 HP:0001649
8 trimethylaminuria 31 HP:0003614

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
trimethylaminuria
deficiency of fmo-mediated n-oxidation of amino-trimethylamine (tma) derived from foodstuffs
large amounts of tma in urine, sweat, and breath

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

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

Neurologic Behavioral Psychiatric Manifestations:
depression
suicidal
psychosocial problems in school

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

Respiratory Lung:
pulmonary infections (in some patients)

Clinical features from OMIM:

602079

Drugs & Therapeutics for Trimethylaminuria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dynamics of the Gut Microbiota in Idiopathic Malodor Production Completed NCT03582826
2 Evaluation of Gastrointestinal and Nutritional Diagnostic Tests as Potential Screening Tools for Metabolic Body Odor and Halitosis Completed NCT02692495

Search NIH Clinical Center for Trimethylaminuria

Cochrane evidence based reviews: trimethylaminuria

Genetic Tests for Trimethylaminuria

Genetic tests related to Trimethylaminuria:

# Genetic test Affiliating Genes
1 Trimethylaminuria 29 FMO3

Anatomical Context for Trimethylaminuria

MalaCards organs/tissues related to Trimethylaminuria:

40
Liver, Testes

Publications for Trimethylaminuria

Articles related to Trimethylaminuria:

(show top 50) (show all 176)
# Title Authors PMID Year
1
Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. 6 56 61
9398858 1997
2
Trimethylaminuria: diet does not always control the fishy odor. 6 56 61
987532 1976
3
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. 54 6 61
11266081 2001
4
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. 54 6 61
10479479 1999
5
Mild trimethylaminuria caused by common variants in FMO3 gene. 54 61 56
10485731 1999
6
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. 54 61 6
10338091 1999
7
Clinical utility gene card for: trimethylaminuria. 61 6
22126753 2012
8
Primary Trimethylaminuria 61 6
20301282 2007
9
Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. 6 61
12893987 2003
10
Fish odor syndrome. 56 61
10646019 1999
11
Transient trimethylaminuria in childhood. 61 56
9846928 1998
12
Trimethylaminuria: the detection of carriers using a trimethylamine load test. 56 61
2501587 1989
13
Trimethylaminuria ('fish-odour syndrome'): a study of an affected family. 56 61
3345632 1988
14
Trimethylaminuria (fish-odour syndrome): an inborn error of oxidative metabolism. 61 56
2881174 1987
15
Psychosocial problems as the major complication of an adolescent with trimethylaminuria. 61 56
448539 1979
16
Trimethylaminuria: fishy odors in children. 61 56
987531 1976
17
Trimethylaminuria and inherited Noonan's syndrome. 56 61
4119196 1973
18
Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome. 6
11191884 2000
19
The fish-odor syndrome. 56
8753757 1996
20
Fish odour syndrome: verification of carrier detection test. 56
8750603 1995
21
The fish odour syndrome: biochemical, familial, and clinical aspects. 56
8401051 1993
22
Bleeding diathesis in Noonan syndrome: a common association. 56
3232698 1988
23
Trimethylamine N-oxide synthesis: a human variant. 56
5048998 1972
24
[Individual differences of drug-metabolizing enzymes as determinants for the metabolic fate of chemicals--a study of trimethylamine and flavin-containing monooxygenase 3-]. 61 54
19881207 2009
25
A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. 54 61
19577495 2009
26
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. 61 54
19321370 2009
27
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. 54 61
17531949 2007
28
Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients. 61 54
17584019 2007
29
Missense and nonsense mutations of the flavin-containing monooxygenase 3 gene in a Japanese cohort. 61 54
17329912 2007
30
Transient trimethylaminuria related to menstruation. 54 61
17257434 2007
31
Trimethylaminuria (fish-odor syndrome): a case report. 61 54
17224546 2007
32
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. 61 54
16600650 2006
33
Mutation, polymorphism and perspectives for the future of human flavin-containing monooxygenase 3. 61 54
16481213 2006
34
Three novel single nucleotide polymorphisms of the FMO3 gene in a Japanese population. 61 54
16858129 2006
35
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. 61 54
16601883 2006
36
Flavin-containing monooxygenase genetic polymorphism: impact on chemical metabolism and drug development. 54 61
16296944 2005
37
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians. 61 54
16324215 2005
38
Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism. 54 61
15922018 2005
39
Trimethylaminuria and a human FMO3 mutation database. 54 61
12938085 2003
40
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. 54 61
12678693 2003
41
Two novel single nucleotide polymorphisms (SNPs) of the FMO3 gene in Japanese. 61 54
15618753 2003
42
Interindividual differences of human flavin-containing monooxygenase 3: genetic polymorphisms and functional variation. 61 54
12228178 2002
43
Genetic polymorphisms of flavin-containing monooxygenase (FMO). 54 61
12214664 2002
44
A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy. 54 61
10898113 2000
45
Population-specific polymorphisms of the human FMO3 gene: significance for detoxication. 54 61
10640514 2000
46
Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome. 61 54
10215790 1999
47
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. 54 61
9536088 1998
48
Structural organization of the human flavin-containing monooxygenase 3 gene (FMO3), the favored candidate for fish-odor syndrome, determined directly from genomic DNA. 54 61
9417913 1997
49
Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria. 61 54
9282831 1997
50
Archaea, specific genetic traits, and development of improved bacterial live biotherapeutic products: another face of next-generation probiotics. 61
32281023 2020

Variations for Trimethylaminuria

ClinVar genetic disease variations for Trimethylaminuria:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FMO3 NM_001002294.3(FMO3):c.1079T>C (p.Leu360Pro)SNV other 21464 rs28363581 1:171083398-171083398 1:171114258-171114258
2 FMO3 NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter)SNV Pathogenic 16304 rs61753344 1:171083232-171083232 1:171114092-171114092
3 FMO3 FMO3, 2-EX DELdeletion Pathogenic 16315
4 FMO3 NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys)SNV Pathogenic 16316 rs72549320 1:171061893-171061893 1:171092752-171092752
5 FMO3 FMO3, 1-BP DEL, 191Adeletion Pathogenic 16317
6 FMO3 NM_001002294.3(FMO3):c.589_590TG[1] (p.Cys197_Asp198delinsTer)short repeat Pathogenic 225364 rs3832024 1:171077324-171077325 1:171108183-171108184
7 FMO3 NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)SNV Pathogenic 16306 rs72549323 1:171072991-171072991 1:171103850-171103850
8 FMO3 NM_001002294.3(FMO3):c.154G>A (p.Ala52Thr)SNV Pathogenic 16307 rs72549321 1:171072947-171072947 1:171103806-171103806
9 FMO3 NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)SNV Pathogenic 16308 rs72549326 1:171076952-171076952 1:171107811-171107811
10 FMO3 NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu)SNV Pathogenic 16311 rs72549331 1:171083479-171083479 1:171114339-171114339
11 FMO3 NM_001002294.3(FMO3):c.940G>T (p.Glu314Ter)SNV Pathogenic 16312 rs72549330 1:171083259-171083259 1:171114119-171114119
12 FMO3 NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)SNV Pathogenic 16313 rs72549322 1:171072975-171072975 1:171103834-171103834
13 FMO3 NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp)SNV Likely pathogenic 16309 rs72549334 1:171086457-171086457 1:171117317-171117317
14 FMO3 NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)SNV Likely pathogenic 562008 rs1384237868 1:171076864-171076864 1:171107723-171107723
15 FMO3 NM_001002294.3(FMO3):c.442G>A (p.Gly148Arg)SNV Likely pathogenic 562009 rs72549325 1:171076936-171076936 1:171107795-171107795
16 FMO3 NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)SNV Likely pathogenic 631576 rs572292275 1:171083248-171083248 1:171114108-171114108
17 FMO3 NM_001002294.3(FMO3):c.1530C>T (p.Phe510=)SNV Conflicting interpretations of pathogenicity 713884 1:171086513-171086513 1:171117373-171117373
18 FMO3 NM_001002294.3(FMO3):c.1204A>G (p.Met402Val)SNV Conflicting interpretations of pathogenicity 293695 rs141117096 1:171085368-171085368 1:171116228-171116228
19 FMO3 NM_001002294.3(FMO3):c.628-6T>CSNV Conflicting interpretations of pathogenicity 293690 rs369396459 1:171079933-171079933 1:171110792-171110792
20 FMO3 NM_001002294.3(FMO3):c.260T>A (p.Ile87Asn)SNV Uncertain significance 293688 rs886045559 1:171073053-171073053 1:171103912-171103912
21 FMO3 NM_001002294.3(FMO3):c.994A>G (p.Ser332Gly)SNV Uncertain significance 293694 rs886045561 1:171083313-171083313 1:171114173-171114173
22 FMO3 NM_001002294.3(FMO3):c.225C>T (p.Pro75=)SNV Uncertain significance 293686 rs141235954 1:171073018-171073018 1:171103877-171103877
23 FMO3 NM_001002294.3(FMO3):c.889G>T (p.Val297Leu)SNV Uncertain significance 293692 rs762874376 1:171083208-171083208 1:171114068-171114068
24 FMO3 NM_001002294.3(FMO3):c.*364C>TSNV Uncertain significance 293700 rs771349442 1:171086946-171086946 1:171117806-171117806
25 FMO3 NM_001002294.3(FMO3):c.-25G>ASNV Uncertain significance 293685 rs11578281 1:171060104-171060104 1:171090963-171090963
26 FMO3 NM_001002294.3(FMO3):c.430A>G (p.Met144Val)SNV Uncertain significance 293689 rs886045560 1:171076924-171076924 1:171107783-171107783
27 FMO3 NM_001002294.3(FMO3):c.245T>C (p.Met82Thr)SNV Uncertain significance 293687 rs72549324 1:171073038-171073038 1:171103897-171103897
28 FMO3 NM_001002294.3(FMO3):c.979T>G (p.Phe327Val)SNV Uncertain significance 293693 rs767834931 1:171083298-171083298 1:171114158-171114158
29 FMO3 NM_001002294.3(FMO3):c.1288T>C (p.Tyr430His)SNV Uncertain significance 293696 rs756249764 1:171086271-171086271 1:171117131-171117131
30 FMO3 NM_001002294.3(FMO3):c.1539T>C (p.His513=)SNV Uncertain significance 293698 rs771817026 1:171086522-171086522 1:171117382-171117382
31 FMO3 NM_001002294.3(FMO3):c.*52G>ASNV Uncertain significance 293699 rs777464034 1:171086634-171086634 1:171117494-171117494
32 FMO3 NM_001002294.3(FMO3):c.*374A>GSNV Uncertain significance 293701 rs187172674 1:171086956-171086956 1:171117816-171117816
33 FMO3 NM_001002294.3(FMO3):c.329T>C (p.Val110Ala)SNV Uncertain significance 875848 1:171076823-171076823 1:171107682-171107682
34 FMO3 NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)SNV Uncertain significance 875849 1:171076835-171076835 1:171107694-171107694
35 FMO3 NM_001002294.3(FMO3):c.428T>A (p.Val143Glu)SNV Uncertain significance 875850 1:171076922-171076922 1:171107781-171107781
36 FMO3 NM_001002294.3(FMO3):c.1123dup (p.Leu375fs)duplication Uncertain significance 631577 rs1204087554 1:171083439-171083440 1:171114299-171114300
37 FMO3 NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile)SNV Uncertain significance 16314 rs72549332 1:171086285-171086285 1:171117145-171117145
38 FMO3 NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys)SNV Uncertain significance 876845 1:171077348-171077348 1:171108207-171108207
39 FMO3 NM_001002294.3(FMO3):c.660G>A (p.Val220=)SNV Uncertain significance 876847 1:171079971-171079971 1:171110830-171110830
40 FMO3 NM_001002294.3(FMO3):c.684T>C (p.Gly228=)SNV Uncertain significance 876848 1:171079995-171079995 1:171110854-171110854
41 FMO3 NM_001002294.3(FMO3):c.713G>A (p.Arg238Gln)SNV Uncertain significance 874042 1:171080024-171080024 1:171110883-171110883
42 FMO3 NM_001002294.3(FMO3):c.729C>G (p.Leu243=)SNV Uncertain significance 874043 1:171080040-171080040 1:171110899-171110899
43 FMO3 NM_001002294.3(FMO3):c.743C>T (p.Pro248Leu)SNV Uncertain significance 874044 1:171080054-171080054 1:171110913-171110913
44 FMO3 NM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln)SNV Uncertain significance 874972 1:171083403-171083403 1:171114263-171114263
45 FMO3 NM_001002294.3(FMO3):c.1222G>T (p.Asp408Tyr)SNV Uncertain significance 874973 1:171085386-171085386 1:171116246-171116246
46 FMO3 NM_001002294.3(FMO3):c.1250G>A (p.Arg417His)SNV Uncertain significance 875898 1:171085414-171085414 1:171116274-171116274
47 FMO3 NM_001002294.3(FMO3):c.1322T>C (p.Ile441Thr)SNV Uncertain significance 875899 1:171086305-171086305 1:171117165-171117165
48 FMO3 NM_001002294.3(FMO3):c.1462A>G (p.Thr488Ala)SNV Uncertain significance 875900 1:171086445-171086445 1:171117305-171117305
49 FMO3 NM_001002294.3(FMO3):c.1507G>A (p.Gly503Arg)SNV Uncertain significance 875901 1:171086490-171086490 1:171117350-171117350
50 FMO3 NM_001002294.3(FMO3):c.*4T>CSNV Uncertain significance 876895 1:171086586-171086586 1:171117446-171117446

UniProtKB/Swiss-Prot genetic disease variations for Trimethylaminuria:

73
# 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

Expression for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.

Pathways for Trimethylaminuria

Pathways related to Trimethylaminuria according to KEGG:

36
# Name Kegg Source Accession
1 Drug metabolism - cytochrome P450 hsa00982

Pathways related to Trimethylaminuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 NR1H4 FMO5 FMO4 FMO3 FMO2 FMO1
2
Show member pathways
12.08 FMO5 FMO4 FMO3 FMO2 FMO1
3
Show member pathways
11.08 DMGDH CHDH
4
Show member pathways
10.91 FMO3 FMO1
5
Show member pathways
10.66 FMO5 FMO4 FMO3 FMO2 FMO1
6
Show member pathways
10.51 FMO5 FMO3

GO Terms for Trimethylaminuria

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.96 TAAR5 PCDHA13 OR5A1 OR2M7 OR14C36 FMO5
2 endoplasmic reticulum membrane GO:0005789 9.55 FMO5 FMO4 FMO3 FMO2 FMO1
3 intracellular membrane-bounded organelle GO:0043231 9.35 FMO5 FMO4 FMO3 FMO2 FMO1
4 organelle membrane GO:0031090 9.02 FMO5 FMO4 FMO3 FMO2 FMO1

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

# Name GO ID Score Top Affiliating Genes
1 xenobiotic metabolic process GO:0006805 9.54 FMO3 FMO2 FMO1
2 oxidation-reduction process GO:0055114 9.5 FMO5 FMO4 FMO3 FMO2 FMO1 DMGDH
3 organic acid metabolic process GO:0006082 9.43 FMO2 FMO1
4 regulation of cholesterol metabolic process GO:0090181 9.4 NR1H4 FMO5
5 drug metabolic process GO:0017144 9.33 FMO5 FMO2 FMO1
6 toxin metabolic process GO:0009404 9.32 FMO2 FMO1
7 choline catabolic process GO:0042426 9.26 DMGDH CHDH
8 NADPH oxidation GO:0070995 8.8 FMO5 FMO2 FMO1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.87 FMO5 FMO4 FMO3 FMO2 FMO1 DMGDH
2 monooxygenase activity GO:0004497 9.65 FMO5 FMO4 FMO3 FMO2 FMO1
3 NADP binding GO:0050661 9.55 FMO5 FMO4 FMO3 FMO2 FMO1
4 flavin adenine dinucleotide binding GO:0050660 9.43 FMO5 FMO4 FMO3 FMO2 FMO1 CHDH
5 N,N-dimethylaniline monooxygenase activity GO:0004499 9.02 FMO5 FMO4 FMO3 FMO2 FMO1

Sources for 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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