Trimethylaminuria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: TRM004 MIFTS: 42	Trimethylaminuria Categories: Genetic diseases, Rare diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Trimethylaminuria

MalaCards integrated aliases for Trimethylaminuria:

Name: Trimethylaminuria ⁵⁷ ⁷⁶ ⁵³ ²⁵ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁰ ⁷³

Tmau ⁵⁷ ⁵³ ²⁵ ⁷⁵

Fish Malodor Syndrome ⁵³ ²⁵

Stale Fish Syndrome ⁵³ ²⁵

Fish-Odor Syndrome ⁵⁷ ⁷⁵

Fish Odor Syndrome ⁵³ ²⁵

Tmauria ⁵³ ²⁵

Severe Primary Trimethylaminuria ⁵⁹

Mesh; D008661 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
offensive fishy body odor

HPO:

³²

trimethylaminuria:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 602079

Orphanet ⁵⁹ ORPHA468726

ICD10 via Orphanet ³⁴ E88.8

MedGen ⁴² C0342739

KEGG ³⁷ H01234

SNOMED-CT via HPO ⁶⁹ 258211005 21061000119107 35489007 more

UMLS ⁷³ C0342739

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Summaries for Trimethylaminuria

NIH Rare Diseases : ⁵³ 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 prader-willi syndrome. An important gene associated with Trimethylaminuria is FMO3 (Flavin Containing Monooxygenase 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 depressivity and hypertension

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 : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor... more...

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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:

#	Related Disease	Score
1	primary trimethylaminuria	12.1
2	prader-willi syndrome	9.8
3	currarino syndrome	9.8
4	enterocolitis	9.8
5	hypothyroidism	9.8
6	epilepsy	9.8
7	delusional disorder	9.8
8	homocystinuria	9.8

Graphical network of the top 20 diseases related to Trimethylaminuria:

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Symptoms & Phenotypes for Trimethylaminuria

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Respiratory Lung:
pulmonary infections (in some patients)

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

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

Clinical features from OMIM:

602079

Human phenotypes related to Trimethylaminuria:

³² (show all 8)

#	Description	HPO Source Accession
1	depressivity ³²	HP:0000716
2	hypertension ³²	HP:0000822
3	tachycardia ³²	HP:0001649
4	splenomegaly ³²	HP:0001744
5	neutropenia ³²	HP:0001875
6	anemia ³²	HP:0001903
7	trimethylaminuria ³²	HP:0003614
8	recurrent pneumonia ³²	HP:0006532

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Drugs & Therapeutics for Trimethylaminuria

Search Clinical Trials , NIH Clinical Center for Trimethylaminuria

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Genetic Tests for Trimethylaminuria

Genetic tests related to Trimethylaminuria:

#	Genetic test	Affiliating Genes
1	Trimethylaminuria ²⁹	FMO3

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Anatomical Context for Trimethylaminuria

MalaCards organs/tissues related to Trimethylaminuria:

⁴¹

Liver, Testes

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Publications for Trimethylaminuria

Articles related to Trimethylaminuria:

(show top 50) (show all 83)

#	Title	Authors	Year
1	Primary and transitory trimethylaminuria: A report of 2 cases. ( 28743400 )	SA!nchez Guevara M.S....Alcalde MartA-n C.	2017
2	Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent. ( 29745129 )	KA+lA+As M.	2017
3	Trimethylaminuria. ( 27118741 )	Sabir N....Padmakumar B.	2016
4	First case of Currarino Syndrome and Trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )	Scimone C....D'Angelo R.	2016
5	Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria. ( 28649550 )	Shimizu M....Yamazaki H.	2015
6	Fish odor syndrome: a case report of trimethylaminuria. ( 24456963 )	Ulman C.A....Gandhi R.K.	2014
7	Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. ( 23821320 )	Miller N.B....Shinawi M.	2014
8	Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. ( 25288227 )	D'Angelo R....Sidoti A.	2014
9	Clinical utility gene card for: Trimethylaminuria - update 2014. ( 25335494 )	Shephard E.A....Phillips I.R.	2014
10	Relationships between flavin-containing monooxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. ( 24028545 )	Shimizu M....Phillips I.R.	2013
11	A Review of Trimethylaminuria: (Fish Odor Syndrome). ( 24307925 )	Messenger J....Bechtel M.	2013
12	Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria. ( 23719328 )	Ramos N....IsHak W.W.	2013
13	Archaebiotics: Proposed therapeutic use of archaea to prevent trimethylaminuria and cardiovascular disease. ( 24247281 )	BrugA"re J.F....Malpuech-BrugA"re C.	2013
14	Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. ( 23791655 )	Ferreira F....Vilarinho L.	2013
15	FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor. ( 23266626 )	D'Angelo R....Sidoti A.	2013
16	Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 22819296 )	Shimizu M....Yamazaki H.	2012
17	Trimethylaminuria (fish malodour syndrome) in chronic renal failure. ( 23930066 )	Hur E....Duman S.	2012
18	Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. ( 23430919 )	Manning N.J....Smith E.J.	2012
19	Clinical utility gene card for: trimethylaminuria. ( 22126753 )	Shephard E.A....Phillips I.R.	2012
20	Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. ( 21276117 )	Christodoulou J.	2012
21	Trimethylaminuria: causes and diagnosis of a socially distressing condition. ( 21451776 )	Mackay R.J....George P.M.	2011
22	Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. ( 21851918 )	Wise P.M....Preti G.	2011
23	Epilepsy and trimethylaminuria: A new case report and literature review. ( 20970269 )	Pellicciari A....Parmeggiani A.	2011
24	[Fish odour--could be a sign of trimethylaminuria]. ( 21092725 )	Haugaard L.K....Christensen E.	2010
25	[Primary trimethylaminuria: the fish odor syndrome]. ( 19695515 )	Montoya Alvarez T....Guijarro G.	2009
26	Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. ( 19321370 )	Motika M.S....Cashman J.R.	2009
27	Bonitos with low content of malodorous trimethylamine as palliative care for self-reported Japanese trimethylaminuria subjects. ( 20045990 )	Shimizu M....Yamazaki H.	2009
28	A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. ( 19577495 )	Allerston C.K....Shephard E.A.	2009
29	Trimethylaminuria (fish malodour syndrome): a &quot;benign&quot; genetic condition with major psychosocial sequelae. ( 18928446 )	Mountain H....Goldblatt J.	2008
30	Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. ( 17531949 )	Yeung C.K....Rettie A.E.	2007
31	Trimethylaminuria (fish-odor syndrome): a case report. ( 17224546 )	Arseculeratne G....Ferguson J.	2007
32	Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients. ( 17584019 )	Yamazaki H....Shimizu M.	2007
33	Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 16996766 )	Yamazaki H....Shimizu M.	2007
34	Transient trimethylaminuria related to menstruation. ( 17257434 )	Shimizu M....Yamazaki H.	2007
35	Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ( 17510942 )	Hsu W.Y....Chao M.C.	2007
36	A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. ( 16600650 )	Teresa E....Gianfrancesco F.	2006
37	Smelling like dead fish: a case of trimethylaminuria in an adolescent. ( 17041178 )	Ferrari N.D....Nield L.S.	2006
38	Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. ( 16601883 )	Chalmers R.A....Iles R.A.	2006
39	Trimethylaminuria (fish-odour syndrome) and oral malodour. ( 15752091 )	Mitchell S.C.	2005
40	Diagnosis of suspected trimethylaminuria by NMR spectroscopy. ( 15563884 )	Podadera P....Lanfer-Marquez U.M.	2005
41	Mild trimethylaminuria observed in a Japanese cohort with liver damage. ( 15989923 )	Yamazaki H....Kamataki T.	2005
42	Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. ( 15565078 )	Busby M.G....Zeisel S.H.	2004
43	Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. ( 15043988 )	Yamazaki H....Kamataki T.	2004
44	Fish odour syndrome with features of both primary and secondary trimethylaminuria. ( 12653714 )	Fraser-Andrews E.A....MenagAc H.d.u. .P.	2003
45	Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. ( 12698036 )	Pardini R.S....Sapien R.E.	2003
46	Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. ( 12678693 )	Cashman J.R....Yannicelli S.	2003
47	Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. ( 12893987 )	Zhang J....Cashman J.R.	2003
48	Trimethylaminuria and a human FMO3 mutation database. ( 12938085 )	Hernandez D....Phillips I.R.	2003
49	A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. ( 11266081 )	Forrest S.M....Treacy E.P.	2001
50	Trimethylaminuria: the fish malodor syndrome. ( 11259343 )	Mitchell S.C....Smith R.L.	2001

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Genes for Trimethylaminuria

Genes related to Trimethylaminuria (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FMO3	Flavin Containing Monooxygenase 3	Protein Coding	1710.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10479479 20301282 22126753 (more) 11191884 11266081 12893987 10338091 987532 9398858 17584019 9282831 19881207 16601883 9536088 10485731 11266081 19577495 12938085 9417913 17531949 10215790 15922018 16600650 16858129 17257434 12228178 10640514 10479479 16481213 16324215 15618671 19321370 17224546 12678693 17329912 16296944 10898113 10338091 12214664 15618753
2	FMO1	Flavin Containing Monooxygenase 1	Protein Coding	35.54	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	12678693
3	FMO4	Flavin Containing Monooxygenase 4	Protein Coding	25.92	GeneCards inferred via : Publications Summaries (show sections)
4	FMO5	Flavin Containing Monooxygenase 5	Protein Coding	17.55	GeneCards inferred via : Summaries (show sections)
5	FMO2	Flavin Containing Monooxygenase 2	Protein Coding	16.86	GeneCards inferred via : Publications (show sections)
6	LOC105371611	Uncharacterized LOC105371611	RNA Gene	7.93	GeneCards inferred via : Variants (show sections)
7	MIR1295A	MicroRNA 1295a	RNA Gene	6.89	GeneCards inferred via : Variants (show sections)

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Variations for Trimethylaminuria

UniProtKB/Swiss-Prot genetic disease variations for Trimethylaminuria:

⁷⁵

#	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 top 50) (show all 72)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FMO3	FMO3, 2-EX DEL	deletion	Pathogenic
2	FMO3	NM_006894.5(FMO3): c.913G> T (p.Glu305Ter)	single nucleotide variant	Pathogenic	rs61753344	GRCh37	Chromosome 1, 171083232: 171083232
3	FMO3	NM_006894.5(FMO3): c.913G> T (p.Glu305Ter)	single nucleotide variant	Pathogenic	rs61753344	GRCh38	Chromosome 1, 171114092: 171114092
4	FMO3	NM_001002294.2(FMO3): c.198G> T (p.Met66Ile)	single nucleotide variant	Pathogenic	rs72549323	GRCh37	Chromosome 1, 171072991: 171072991
5	FMO3	NM_001002294.2(FMO3): c.198G> T (p.Met66Ile)	single nucleotide variant	Pathogenic	rs72549323	GRCh38	Chromosome 1, 171103850: 171103850
6	FMO3	NM_001002294.2(FMO3): c.154G> A (p.Ala52Thr)	single nucleotide variant	Pathogenic	rs72549321	GRCh37	Chromosome 1, 171072947: 171072947
7	FMO3	NM_001002294.2(FMO3): c.154G> A (p.Ala52Thr)	single nucleotide variant	Pathogenic	rs72549321	GRCh38	Chromosome 1, 171103806: 171103806
8	FMO3	NM_006894.5(FMO3): c.458C> T (p.Pro153Leu)	single nucleotide variant	Pathogenic	rs72549326	GRCh37	Chromosome 1, 171076952: 171076952
9	FMO3	NM_006894.5(FMO3): c.458C> T (p.Pro153Leu)	single nucleotide variant	Pathogenic	rs72549326	GRCh38	Chromosome 1, 171107811: 171107811
10	FMO3	NM_006894.5(FMO3): c.1474C> T (p.Arg492Trp)	single nucleotide variant	Likely pathogenic	rs72549334	GRCh37	Chromosome 1, 171086457: 171086457
11	FMO3	NM_006894.5(FMO3): c.1474C> T (p.Arg492Trp)	single nucleotide variant	Likely pathogenic	rs72549334	GRCh38	Chromosome 1, 171117317: 171117317
12	FMO3	NM_001002294.2(FMO3): c.1160G> T (p.Arg387Leu)	single nucleotide variant	Pathogenic	rs72549331	GRCh37	Chromosome 1, 171083479: 171083479
13	FMO3	NM_001002294.2(FMO3): c.1160G> T (p.Arg387Leu)	single nucleotide variant	Pathogenic	rs72549331	GRCh38	Chromosome 1, 171114339: 171114339
14	FMO3	NM_001002294.2(FMO3): c.940G> T (p.Glu314Ter)	single nucleotide variant	Pathogenic	rs72549330	GRCh37	Chromosome 1, 171083259: 171083259
15	FMO3	NM_001002294.2(FMO3): c.940G> T (p.Glu314Ter)	single nucleotide variant	Pathogenic	rs72549330	GRCh38	Chromosome 1, 171114119: 171114119
16	FMO3	NM_006894.5(FMO3): c.182A> G (p.Asn61Ser)	single nucleotide variant	Pathogenic	rs72549322	GRCh37	Chromosome 1, 171072975: 171072975
17	FMO3	NM_006894.5(FMO3): c.182A> G (p.Asn61Ser)	single nucleotide variant	Pathogenic	rs72549322	GRCh38	Chromosome 1, 171103834: 171103834
18	FMO3	NM_001002294.2(FMO3): c.1302G> A (p.Met434Ile)	single nucleotide variant	Pathogenic	rs72549332	GRCh37	Chromosome 1, 171086285: 171086285
19	FMO3	NM_001002294.2(FMO3): c.1302G> A (p.Met434Ile)	single nucleotide variant	Pathogenic	rs72549332	GRCh38	Chromosome 1, 171117145: 171117145
20	FMO3	NM_001002294.2(FMO3): c.94G> A (p.Glu32Lys)	single nucleotide variant	Pathogenic	rs72549320	GRCh37	Chromosome 1, 171061893: 171061893
21	FMO3	NM_001002294.2(FMO3): c.94G> A (p.Glu32Lys)	single nucleotide variant	Pathogenic	rs72549320	GRCh38	Chromosome 1, 171092752: 171092752
22	FMO3	FMO3, 1-BP DEL, 191A	deletion	Pathogenic
23	FMO3	NM_006894.5(FMO3): c.560T> C (p.Val187Ala)	single nucleotide variant	no interpretation for the single variant	rs769983049	GRCh37	Chromosome 1, 171077295: 171077295
24	FMO3	NM_006894.5(FMO3): c.560T> C (p.Val187Ala)	single nucleotide variant	no interpretation for the single variant	rs769983049	GRCh38	Chromosome 1, 171108154: 171108154
25	FMO3	NM_006894.5(FMO3): c.172G> A (p.Val58Ile)	single nucleotide variant	Uncertain significance	rs144935285	GRCh37	Chromosome 1, 171072965: 171072965
26	FMO3	NM_006894.5(FMO3): c.172G> A (p.Val58Ile)	single nucleotide variant	Uncertain significance	rs144935285	GRCh38	Chromosome 1, 171103824: 171103824
27	FMO3	NM_006894.5(FMO3): c.591_592delTG (p.Cys197Terfs)	deletion	Pathogenic	rs3832024	GRCh37	Chromosome 1, 171077326: 171077327
28	FMO3	NM_006894.5(FMO3): c.591_592delTG (p.Cys197Terfs)	deletion	Pathogenic	rs3832024	GRCh38	Chromosome 1, 171108185: 171108186
29	FMO3	NM_006894.5(FMO3): c.441C> T (p.Ser147=)	single nucleotide variant	Benign	rs1800822	GRCh37	Chromosome 1, 171076935: 171076935
30	FMO3	NM_006894.5(FMO3): c.441C> T (p.Ser147=)	single nucleotide variant	Benign	rs1800822	GRCh38	Chromosome 1, 171107794: 171107794
31	FMO3	NM_006894.5(FMO3): c.627+10C> G	single nucleotide variant	Benign	rs2066534	GRCh37	Chromosome 1, 171077372: 171077372
32	FMO3	NM_006894.5(FMO3): c.627+10C> G	single nucleotide variant	Benign	rs2066534	GRCh38	Chromosome 1, 171108231: 171108231
33	FMO3	NM_006894.5(FMO3): c.830T> C (p.Val277Ala)	single nucleotide variant	Likely benign	rs2066530	GRCh38	Chromosome 1, 171114009: 171114009
34	FMO3	NM_006894.5(FMO3): c.830T> C (p.Val277Ala)	single nucleotide variant	Likely benign	rs2066530	GRCh37	Chromosome 1, 171083149: 171083149
35	FMO3	NM_006894.5(FMO3): c.855C> T (p.Asn285=)	single nucleotide variant	Benign	rs909530	GRCh38	Chromosome 1, 171114034: 171114034
36	FMO3	NM_006894.5(FMO3): c.855C> T (p.Asn285=)	single nucleotide variant	Benign	rs909530	GRCh37	Chromosome 1, 171083174: 171083174
37	FMO3	NM_006894.5(FMO3): c.1221T> C (p.Asn407=)	single nucleotide variant	Uncertain significance	rs79553697	GRCh37	Chromosome 1, 171085385: 171085385
38	FMO3	NM_006894.5(FMO3): c.1221T> C (p.Asn407=)	single nucleotide variant	Uncertain significance	rs79553697	GRCh38	Chromosome 1, 171116245: 171116245
39	FMO3	NM_006894.5(FMO3): c.260T> A (p.Ile87Asn)	single nucleotide variant	Uncertain significance	rs886045559	GRCh37	Chromosome 1, 171073053: 171073053
40	FMO3	NM_006894.5(FMO3): c.260T> A (p.Ile87Asn)	single nucleotide variant	Uncertain significance	rs886045559	GRCh38	Chromosome 1, 171103912: 171103912
41	FMO3	NM_006894.5(FMO3): c.994A> G (p.Ser332Gly)	single nucleotide variant	Uncertain significance	rs886045561	GRCh37	Chromosome 1, 171083313: 171083313
42	FMO3	NM_006894.5(FMO3): c.994A> G (p.Ser332Gly)	single nucleotide variant	Uncertain significance	rs886045561	GRCh38	Chromosome 1, 171114173: 171114173
43	FMO3	NM_006894.5(FMO3): c.1204A> G (p.Met402Val)	single nucleotide variant	Uncertain significance	rs141117096	GRCh37	Chromosome 1, 171085368: 171085368
44	FMO3	NM_006894.5(FMO3): c.1204A> G (p.Met402Val)	single nucleotide variant	Uncertain significance	rs141117096	GRCh38	Chromosome 1, 171116228: 171116228
45	FMO3	NM_006894.5(FMO3): c.225C> T (p.Pro75=)	single nucleotide variant	Uncertain significance	rs141235954	GRCh37	Chromosome 1, 171073018: 171073018
46	FMO3	NM_006894.5(FMO3): c.225C> T (p.Pro75=)	single nucleotide variant	Uncertain significance	rs141235954	GRCh38	Chromosome 1, 171103877: 171103877
47	FMO3	NM_006894.5(FMO3): c.889G> T (p.Val297Leu)	single nucleotide variant	Uncertain significance	rs762874376	GRCh37	Chromosome 1, 171083208: 171083208
48	FMO3	NM_006894.5(FMO3): c.889G> T (p.Val297Leu)	single nucleotide variant	Uncertain significance	rs762874376	GRCh38	Chromosome 1, 171114068: 171114068
49	FMO3	NM_006894.5(FMO3): c.1505T> G (p.Val502Gly)	single nucleotide variant	Uncertain significance	rs60306057	GRCh37	Chromosome 1, 171086488: 171086488
50	FMO3	NM_006894.5(FMO3): c.1505T> G (p.Val502Gly)	single nucleotide variant	Uncertain significance	rs60306057	GRCh38	Chromosome 1, 171117348: 171117348

Sources

Expression for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.

Sources

Pathways for Trimethylaminuria

Pathways related to Trimethylaminuria according to KEGG:

³⁷

#	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	Cytochrome P450 - arranged by substrate type ⁶⁶ Show member pathways Amine Oxidase reactions ⁶⁶ Aryl hydrocarbon receptor signalling ⁶⁶ Benzo(a)pyrene metabolism ¹ Biological oxidations ⁶⁶ bupropion degradation ¹ Clobazam Pathway, Pharmacokinetics ⁶¹ CYP2E1 reactions ⁶⁶ Cytosolic sulfonation of small molecules ⁶⁶ Diclofenac Metabolic Pathway ¹ Eicosanoids ⁶⁶ Endogenous sterols ⁶⁶ Estradiol metabolism ²² Ethanol oxidation ⁶⁶ Fatty Acid Omega Oxidation ¹ Fatty acids ⁶⁶ Metapathway biotransformation ¹ Methylation ⁶⁶ Miscellaneous substrates ⁶⁶ Oxidation by Cytochrome P450 ¹ Phase 1 - Functionalization of compounds ⁶⁶ Phase II conjugation ⁶⁶ Sterols are 12-hydroxylated by CYP8B1 ⁶⁶ Transport and synthesis of PAPS ⁶⁶ Vitamin D2 (ergocalciferol) metabolism ²² vitamin D3 biosynthesis ¹ Vitamins ⁶⁶ Xenobiotics ⁶⁶	12.56	FMO1 FMO2 FMO3 FMO4 FMO5
2	Drug metabolism - cytochrome P450 ³⁷ Show member pathways Aflatoxin B1 metabolism ¹ Arylamine metabolism ¹ Benzo[a]pyrene metabolism ²² Benzodiazepine Pathway, Pharmacokinetics ⁶¹ Celecoxib Pathway, Pharmacokinetics ⁶¹ Chemical carcinogenesis ³⁷ Drug metabolism - other enzymes ³⁷ Fluvoxamine Pathway, Pharmacokinetics ⁶¹ Haloperidol Pathway, Pharmacokinetics ⁶¹ Ifosfamide Pathway, Pharmacokinetics ⁶¹ Metabolism of xenobiotics by cytochrome P450 ³⁷ Naproxen Pathway, Pharmacokinetics ⁶¹ Oxycodone Pathway, Pharmacokinetics ⁶¹ Retinol metabolism ³⁷ Retinol metabolism ²² Voriconazole Pathway, Pharmacokinetics ⁶¹	12.05	FMO1 FMO2 FMO3 FMO4 FMO5
3	Imipramine/Desipramine Pathway, Pharmacokinetics ⁶¹ Show member pathways Amitriptyline and Nortriptyline Pathway, Pharmacokinetics ⁶¹ Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2 ⁶⁶ Citalopram Pathway, Pharmacokinetics ⁶¹ Clomipramine Pathway, Pharmacokinetics ⁶¹ Clopidogrel Pathway, Pharmacokinetics ⁶¹ Clozapine Pathway, Pharmacokinetics ⁶¹ Colchicine Metabolic Pathway ¹ Lidocaine metabolism ¹ Olanzapine Pathway, Pharmacokinetics ⁶¹ Paroxetine Pathway, Pharmacokinetics ⁶¹ Proton Pump Inhibitor Pathway, Pharmacokinetics ⁶¹ Venlafaxine Pathway, Pharmacokinetics ⁶¹ Verapamil Pathway, Pharmacokinetics ⁶¹	11.27	FMO1 FMO3
4	Tamoxifen Pathway, Pharmacokinetics ⁶¹ Show member pathways Artemisinin and Derivatives Pathway, Pharmacokinetics ⁶¹ Efavirenz Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹ Tamoxifen metabolism ¹	11.11	FMO1 FMO3
5	Busulfan Pathway, Pharmacodynamics ⁶¹ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁶	10.66	FMO1 FMO2 FMO3 FMO4 FMO5
6	nicotine degradation IV ¹ Show member pathways Methylation of MeSeH for excretion ⁶⁶ nicotine degradation III ¹	10.51	FMO3 FMO5

Sources

GO Terms for Trimethylaminuria

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

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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	drug metabolic process	GO:0017144	9.37	FMO1 FMO2
2	xenobiotic metabolic process	GO:0006805	9.33	FMO1 FMO2 FMO3
3	organic acid metabolic process	GO:0006082	9.32	FMO1 FMO2
4	toxin metabolic process	GO:0009404	9.26	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.72	FMO1 FMO2 FMO3 FMO4 FMO5
2	flavin adenine dinucleotide binding	GO:0050660	9.65	FMO1 FMO2 FMO3 FMO4 FMO5
3	monooxygenase activity	GO:0004497	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

Sources for Trimethylaminuria

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia