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 25
Tmauria 25 6
Fish Odor Syndrome 25
Trimethylaminuria 71
Fmo3 Deficiency 25
Tmau 25

Classifications:



External Ids:

UMLS 71 C0342739

Summaries for Primary Trimethylaminuria

MalaCards based summary : Primary Trimethylaminuria, also known as tmauria, is related to trimethylaminuria and abdominal obesity-metabolic syndrome 1. An important gene associated with Primary Trimethylaminuria is FMO3 (Flavin Containing Dimethylaniline Monoxygenase 3).

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 11.2
2 abdominal obesity-metabolic syndrome 1 10.0
3 autosomal recessive disease 10.0
4 tonsillitis 10.0
5 adjustment disorder 10.0
6 hypothyroidism 10.0
7 inherited metabolic disorder 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

Search Clinical Trials , NIH Clinical Center for Primary Trimethylaminuria

Genetic Tests for Primary Trimethylaminuria

Anatomical Context for Primary Trimethylaminuria

Publications for Primary Trimethylaminuria

Articles related to Primary Trimethylaminuria:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. 61 25 6
11266081 2001
2
Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. 61 6 25
9398858 1997
3
Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome. 25 6
11191884 2000
4
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. 61 6
10479479 1999
5
Treatments of trimethylaminuria: where we are and where we might be heading. 25 61
32615074 2020
6
Trimethylamine and Trimethylamine N-Oxide, a Flavin-Containing Monooxygenase 3 (FMO3)-Mediated Host-Microbiome Metabolic Axis Implicated in Health and Disease. 25 61
27190056 2016
7
Trimethylaminuria: causes and diagnosis of a socially distressing condition. 25 61
21451776 2011
8
Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. 6
12893987 2003
9
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. 61 25
10898113 2000
10
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. 6
10338091 1999
11
Trimethylaminuria: diet does not always control the fishy odor. 6
987532 1976
12
Microbiota and Malodor-Etiology and Management. 25
32326126 2020
13
Flavin-containing monooxygenase 3 (FMO3): genetic variants and their consequences for drug metabolism and disease. 25
31317802 2020
14
Endovascular Closure Resolves Trimethylaminuria Caused by Congenital Portosystemic Shunts. 25
31777726 2019
15
The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor. 25
30720598 2019
16
Development and feasibility of the use of an assessment tool measuring treatment efficacy in patients with trimethylaminuria: A mixed methods study. 25
30734325 2019
17
A simple dilute and shoot approach incorporated with pentafluorophenyl (PFP) column based LC-MS/MS assay for the simultaneous determination of trimethylamine N-oxide and trimethylamine in spot urine samples with high throughput. 25
29017075 2017
18
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
19
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
20
Drug metabolism by flavin-containing monooxygenases of human and mouse. 25
27678284 2017
21
Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. 25
24028545 2014
22
Survey of variants of human flavin-containing monooxygenase 3 (FMO3) and their drug oxidation activities. 25
23567996 2013
23
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. 25
23430919 2012
24
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. 25
19321370 2009
25
Transient trimethylaminuria related to menstruation. 25
17257434 2007
26
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. 25
16601883 2006
27
Trimethylaminuria (fish-odour syndrome) and oral malodour. 25
15752091 2005
28
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. 25
15565078 2004
29
Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3. 25
15564885 2004
30
Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. 25
15043988 2004
31
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. 25
12698036 2003
32
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. 25
12678693 2003
33
Halitosis in medicine: a review. 25
12090453 2002
34
Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression. 25
11809920 2002
35
Trimethylaminuria: the fish malodor syndrome. 25
11259343 2001
36
Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency. 25
10896299 2000
37
In vitro and in vivo inhibition of human flavin-containing monooxygenase form 3 (FMO3) in the presence of dietary indoles. 25
10509757 1999
38
Trimethylamine and foetor hepaticus. 25
10423071 1999
39
Isoform specificity of trimethylamine N-oxygenation by human flavin-containing monooxygenase (FMO) and P450 enzymes: selective catalysis by FMO3. 25
9776311 1998
40
Studies on the discontinuous N-oxidation of trimethylamine among Jordanian, Ecuadorian and New Guinean populations. 25
9110361 1997
41
[Trimethylaminuria: three different mutations in a single family]. 61
30864455 2019
42
A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea. 61
28392825 2017
43
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent. 61
29745129 2017
44
[Primary trimethylaminuria or fish odour syndrome: early diagnosis from primary care]. 61
23036313 2013
45
A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. 61
19577495 2009
46
[Primary trimethylaminuria: the fish odor syndrome]. 61
19695515 2009
47
Primary Trimethylaminuria 61
20301282 2007
48
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. 61
17531949 2007
49
Trimethylaminuria (fish-odor syndrome): a case report. 61
17224546 2007
50
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. 61
16600650 2006

Variations for Primary Trimethylaminuria

ClinVar genetic disease variations for Primary Trimethylaminuria:

6 (show top 50) (show all 70)
# 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.198G>T (p.Met66Ile) SNV Pathogenic 16306 rs72549323 1:171072991-171072991 1:171103850-171103850
3 FMO3 NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) SNV Pathogenic 16313 rs72549322 1:171072975-171072975 1:171103834-171103834
4 FMO3 NM_006894.5(FMO3):c.472G>A (p.Glu158Lys) SNV Pathogenic 217371 rs2266782 1:171076966-171076966 1:171107825-171107825
5 FMO3 NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu) SNV Pathogenic 16311 rs72549331 1:171083479-171083479 1:171114339-171114339
6 FMO3 NM_001002294.3(FMO3):c.940G>T (p.Glu314Ter) SNV Pathogenic 16312 rs72549330 1:171083259-171083259 1:171114119-171114119
7 FMO3 NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter) SNV Pathogenic 16304 rs61753344 1:171083232-171083232 1:171114092-171114092
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 FMO3, 2-EX DEL Deletion Pathogenic 16315
11 FMO3 NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys) SNV Pathogenic 16316 rs72549320 1:171061893-171061893 1:171092752-171092752
12 FMO3 FMO3, 1-BP DEL, 191A Deletion Pathogenic 16317
13 FMO3 NM_001002294.3(FMO3):c.589_590TG[1] (p.Cys197_Asp198delinsTer) Microsatellite Pathogenic 225364 rs3832024 1:171077324-171077325 1:171108183-171108184
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.1474C>T (p.Arg492Trp) SNV Likely pathogenic 16309 rs72549334 1:171086457-171086457 1:171117317-171117317
18 FMO3 NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) SNV Likely pathogenic 16318 rs2266780 1:171083242-171083242 1:171114102-171114102
19 FMO3 NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) SNV Uncertain significance 16314 rs72549332 1:171086285-171086285 1:171117145-171117145
20 FMO3 NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys) SNV Uncertain significance 876845 1:171077348-171077348 1:171108207-171108207
21 FMO3 NM_001002294.3(FMO3):c.627+13G>A SNV Uncertain significance 876846 1:171077375-171077375 1:171108234-171108234
22 FMO3 NM_001002294.3(FMO3):c.660G>A (p.Val220=) SNV Uncertain significance 876847 1:171079971-171079971 1:171110830-171110830
23 FMO3 NM_001002294.3(FMO3):c.684T>C (p.Gly228=) SNV Uncertain significance 876848 1:171079995-171079995 1:171110854-171110854
24 FMO3 NM_001002294.3(FMO3):c.*4T>C SNV Uncertain significance 876895 1:171086586-171086586 1:171117446-171117446
25 FMO3 NM_001002294.3(FMO3):c.*261A>G SNV Uncertain significance 876896 1:171086843-171086843 1:171117703-171117703
26 FMO3 NM_001002294.3(FMO3):c.1204A>G (p.Met402Val) SNV Uncertain significance 293695 rs141117096 1:171085368-171085368 1:171116228-171116228
27 FMO3 NM_001002294.3(FMO3):c.628-6T>C SNV Uncertain significance 293690 rs369396459 1:171079933-171079933 1:171110792-171110792
28 FMO3 NM_001002294.3(FMO3):c.1530C>T (p.Phe510=) SNV Uncertain significance 713884 rs28363595 1:171086513-171086513 1:171117373-171117373
29 FMO3 NM_001002294.3(FMO3):c.1123dup (p.Leu375fs) Duplication Uncertain significance 631577 rs1204087554 1:171083439-171083440 1:171114299-171114300
30 FMO3 NM_001002294.3(FMO3):c.245T>C (p.Met82Thr) SNV Uncertain significance 293687 rs72549324 1:171073038-171073038 1:171103897-171103897
31 FMO3 NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) SNV Uncertain significance 225365 rs144935285 1:171072965-171072965 1:171103824-171103824
32 FMO3 NM_001002294.3(FMO3):c.*374A>G SNV Uncertain significance 293701 rs187172674 1:171086956-171086956 1:171117816-171117816
33 FMO3 NM_001002294.3(FMO3):c.1539T>C (p.His513=) SNV Uncertain significance 293698 rs771817026 1:171086522-171086522 1:171117382-171117382
34 FMO3 NM_001002294.3(FMO3):c.430A>G (p.Met144Val) SNV Uncertain significance 293689 rs886045560 1:171076924-171076924 1:171107783-171107783
35 FMO3 NM_001002294.3(FMO3):c.*52G>A SNV Uncertain significance 293699 rs777464034 1:171086634-171086634 1:171117494-171117494
36 FMO3 NM_001002294.3(FMO3):c.979T>G (p.Phe327Val) SNV Uncertain significance 293693 rs767834931 1:171083298-171083298 1:171114158-171114158
37 FMO3 NM_001002294.3(FMO3):c.889G>T (p.Val297Leu) SNV Uncertain significance 293692 rs762874376 1:171083208-171083208 1:171114068-171114068
38 FMO3 NM_001002294.3(FMO3):c.-25G>A SNV Uncertain significance 293685 rs11578281 1:171060104-171060104 1:171090963-171090963
39 FMO3 NM_001002294.3(FMO3):c.*364C>T SNV Uncertain significance 293700 rs771349442 1:171086946-171086946 1:171117806-171117806
40 FMO3 NM_001002294.3(FMO3):c.260T>A (p.Ile87Asn) SNV Uncertain significance 293688 rs886045559 1:171073053-171073053 1:171103912-171103912
41 FMO3 NM_001002294.3(FMO3):c.1288T>C (p.Tyr430His) SNV Uncertain significance 293696 rs756249764 1:171086271-171086271 1:171117131-171117131
42 FMO3 NM_001002294.3(FMO3):c.225C>T (p.Pro75=) SNV Uncertain significance 293686 rs141235954 1:171073018-171073018 1:171103877-171103877
43 FMO3 NM_001002294.3(FMO3):c.994A>G (p.Ser332Gly) SNV Uncertain significance 293694 rs886045561 1:171083313-171083313 1:171114173-171114173
44 FMO3 NM_001002294.3(FMO3):c.713G>A (p.Arg238Gln) SNV Uncertain significance 874042 1:171080024-171080024 1:171110883-171110883
45 FMO3 NM_001002294.3(FMO3):c.729C>G (p.Leu243=) SNV Uncertain significance 874043 1:171080040-171080040 1:171110899-171110899
46 FMO3 NM_001002294.3(FMO3):c.743C>T (p.Pro248Leu) SNV Uncertain significance 874044 1:171080054-171080054 1:171110913-171110913
47 FMO3 NM_001002294.3(FMO3):c.132+13T>C SNV Uncertain significance 874915 1:171061944-171061944 1:171092803-171092803
48 FMO3 NM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln) SNV Uncertain significance 874972 1:171083403-171083403 1:171114263-171114263
49 FMO3 NM_001002294.3(FMO3):c.1222G>T (p.Asp408Tyr) SNV Uncertain significance 874973 1:171085386-171085386 1:171116246-171116246
50 FMO3 NM_001002294.3(FMO3):c.329T>C (p.Val110Ala) SNV Uncertain significance 875848 1:171076823-171076823 1:171107682-171107682

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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