MCID: TRM004
MIFTS: 42

Trimethylaminuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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:

Orphanet: 59  
Inborn errors of metabolism


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...

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:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
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:



Diseases related to Trimethylaminuria

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 (showing 8, show less)
# Description HPO Frequency 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

Drugs & Therapeutics for Trimethylaminuria

Search Clinical Trials , NIH Clinical Center for 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:

41
Liver, Testes

Publications for Trimethylaminuria

Articles related to Trimethylaminuria:

(showing 83, show less)
# Title Authors Year
1
Primary and transitory trimethylaminuria: A report of 2 cases. ( 28743400 )
2017
2
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent. ( 29745129 )
2017
3
Trimethylaminuria. ( 27118741 )
2016
4
First case of Currarino Syndrome and Trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )
2016
5
Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria. ( 28649550 )
2015
6
Fish odor syndrome: a case report of trimethylaminuria. ( 24456963 )
2014
7
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. ( 23821320 )
2014
8
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. ( 25288227 )
2014
9
Clinical utility gene card for: Trimethylaminuria - update 2014. ( 25335494 )
2014
10
Relationships between flavin-containing monooxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. ( 24028545 )
2013
11
A Review of Trimethylaminuria: (Fish Odor Syndrome). ( 24307925 )
2013
12
Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria. ( 23719328 )
2013
13
Archaebiotics: Proposed therapeutic use of archaea to prevent trimethylaminuria and cardiovascular disease. ( 24247281 )
2013
14
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. ( 23791655 )
2013
15
FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor. ( 23266626 )
2013
16
Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 22819296 )
2012
17
Trimethylaminuria (fish malodour syndrome) in chronic renal failure. ( 23930066 )
2012
18
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. ( 23430919 )
2012
19
Clinical utility gene card for: trimethylaminuria. ( 22126753 )
2012
20
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. ( 21276117 )
2012
21
Trimethylaminuria: causes and diagnosis of a socially distressing condition. ( 21451776 )
2011
22
Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. ( 21851918 )
2011
23
Epilepsy and trimethylaminuria: A new case report and literature review. ( 20970269 )
2011
24
[Fish odour--could be a sign of trimethylaminuria]. ( 21092725 )
2010
25
[Primary trimethylaminuria: the fish odor syndrome]. ( 19695515 )
2009
26
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. ( 19321370 )
2009
27
Bonitos with low content of malodorous trimethylamine as palliative care for self-reported Japanese trimethylaminuria subjects. ( 20045990 )
2009
28
A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. ( 19577495 )
2009
29
Trimethylaminuria (fish malodour syndrome): a "benign" genetic condition with major psychosocial sequelae. ( 18928446 )
2008
30
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. ( 17531949 )
2007
31
Trimethylaminuria (fish-odor syndrome): a case report. ( 17224546 )
2007
32
Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients. ( 17584019 )
2007
33
Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 16996766 )
2007
34
Transient trimethylaminuria related to menstruation. ( 17257434 )
2007
35
Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ( 17510942 )
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 )
2006
37
Smelling like dead fish: a case of trimethylaminuria in an adolescent. ( 17041178 )
2006
38
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. ( 16601883 )
2006
39
Trimethylaminuria (fish-odour syndrome) and oral malodour. ( 15752091 )
2005
40
Diagnosis of suspected trimethylaminuria by NMR spectroscopy. ( 15563884 )
2005
41
Mild trimethylaminuria observed in a Japanese cohort with liver damage. ( 15989923 )
2005
42
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. ( 15565078 )
2004
43
Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. ( 15043988 )
2004
44
Fish odour syndrome with features of both primary and secondary trimethylaminuria. ( 12653714 )
2003
45
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. ( 12698036 )
2003
46
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. ( 12678693 )
2003
47
Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. ( 12893987 )
2003
48
Trimethylaminuria and a human FMO3 mutation database. ( 12938085 )
2003
49
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. ( 11266081 )
2001
50
Trimethylaminuria: the fish malodor syndrome. ( 11259343 )
2001
51
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. ( 10338091 )
1999
52
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. ( 10479479 )
1999
53
Mild trimethylaminuria caused by common variants in FMO3 gene. ( 10485731 )
1999
54
Trimethylaminuria: susceptibility of heterozygotes. ( 10609842 )
1999
55
Transient trimethylaminuria in childhood. ( 9846928 )
1998
56
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. ( 9536088 )
1998
57
A pharmacogenetic study of trimethylaminuria in Orientals. ( 9429235 )
1997
58
Trimethylaminuria associated with seizures and behavioural disturbance: a case report. ( 9304724 )
1997
59
Congenital intrahepatic portocaval shunt associated with trimethylaminuria. ( 9156859 )
1997
60
Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria. ( 9282831 )
1997
61
Congenital intrahepatic portocaval shunt associated with trimethylaminuria ( 9069234 )
1997
62
Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine. ( 7564241 )
1995
63
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole. ( 7474897 )
1995
64
Trimethylaminuria ( 20301282 )
1993
65
Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). ( 8434620 )
1993
66
Effects of dietary alteration on trimethylaminuria as measured by mass spectrometry. ( 2019317 )
1991
67
Trimethylaminuria: the detection of carriers using a trimethylamine load test. ( 2501587 )
1989
68
An unusual case of trimethylaminuria. ( 2713263 )
1989
69
Lactulose in trimethylaminuria, the fish-odour syndrome. ( 2708075 )
1989
70
Trimethylaminuria ('fish-odour syndrome'): a study of an affected family. ( 3345632 )
1988
71
Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection. ( 3126363 )
1987
72
Trimethylaminuria (fish-odour syndrome): an inborn error of oxidative metabolism. ( 2881174 )
1987
73
Fish odor syndrome: trimethylaminuria with milk as chief dietary factor. ( 4070086 )
1985
74
The fish odor syndrome. Trimethylaminuria. ( 6690785 )
1984
75
Trimethylaminuria. ( 6838148 )
1983
76
Trimethylaminuria. ( 6796765 )
1980
77
Psychosocial problems as the major complication of an adolescent with trimethylaminuria. ( 448539 )
1979
78
Trimethylaminuria: the use of choline as an aid to diagnosis. ( 861177 )
1977
79
Trimethylaminuria: diet does not always control the fishy odor. ( 987532 )
1976
80
Proceedings: Trimethylaminuria or fish odour syndrome in a child. ( 945065 )
1976
81
Trimethylaminuria: fishy odors in children. ( 987531 )
1976
82
Trimethylaminuria and inherited Noonan's syndrome. ( 4119196 )
1973
83
Trimethylaminuria: the fish-odour syndrome. ( 4195988 )
1970

Variations for Trimethylaminuria

UniProtKB/Swiss-Prot genetic disease variations for Trimethylaminuria:

75 (showing 8, show less)
# 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
(showing 72, show less)
# 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
51 FMO3 NM_006894.5(FMO3): c.*364C> T single nucleotide variant Uncertain significance rs771349442 GRCh37 Chromosome 1, 171086946: 171086946
52 FMO3 NM_006894.5(FMO3): c.*364C> T single nucleotide variant Uncertain significance rs771349442 GRCh38 Chromosome 1, 171117806: 171117806
53 FMO3 NM_006894.5(FMO3): c.-8G> A single nucleotide variant Uncertain significance rs11578281 GRCh37 Chromosome 1, 171060104: 171060104
54 FMO3 NM_006894.5(FMO3): c.-8G> A single nucleotide variant Uncertain significance rs11578281 GRCh38 Chromosome 1, 171090963: 171090963
55 FMO3 NM_006894.5(FMO3): c.430A> G (p.Met144Val) single nucleotide variant Uncertain significance rs886045560 GRCh37 Chromosome 1, 171076924: 171076924
56 FMO3 NM_006894.5(FMO3): c.430A> G (p.Met144Val) single nucleotide variant Uncertain significance rs886045560 GRCh38 Chromosome 1, 171107783: 171107783
57 FMO3 NM_006894.5(FMO3): c.245T> C (p.Met82Thr) single nucleotide variant Uncertain significance rs72549324 GRCh37 Chromosome 1, 171073038: 171073038
58 FMO3 NM_006894.5(FMO3): c.245T> C (p.Met82Thr) single nucleotide variant Uncertain significance rs72549324 GRCh38 Chromosome 1, 171103897: 171103897
59 FMO3 NM_006894.5(FMO3): c.979T> G (p.Phe327Val) single nucleotide variant Uncertain significance rs767834931 GRCh37 Chromosome 1, 171083298: 171083298
60 FMO3 NM_006894.5(FMO3): c.979T> G (p.Phe327Val) single nucleotide variant Uncertain significance rs767834931 GRCh38 Chromosome 1, 171114158: 171114158
61 FMO3 NM_006894.5(FMO3): c.1288T> C (p.Tyr430His) single nucleotide variant Uncertain significance rs756249764 GRCh37 Chromosome 1, 171086271: 171086271
62 FMO3 NM_006894.5(FMO3): c.1288T> C (p.Tyr430His) single nucleotide variant Uncertain significance rs756249764 GRCh38 Chromosome 1, 171117131: 171117131
63 FMO3 NM_006894.5(FMO3): c.1539T> C (p.His513=) single nucleotide variant Uncertain significance rs771817026 GRCh37 Chromosome 1, 171086522: 171086522
64 FMO3 NM_006894.5(FMO3): c.1539T> C (p.His513=) single nucleotide variant Uncertain significance rs771817026 GRCh38 Chromosome 1, 171117382: 171117382
65 FMO3 NM_006894.5(FMO3): c.*52G> A single nucleotide variant Uncertain significance rs777464034 GRCh37 Chromosome 1, 171086634: 171086634
66 FMO3 NM_006894.5(FMO3): c.*52G> A single nucleotide variant Uncertain significance rs777464034 GRCh38 Chromosome 1, 171117494: 171117494
67 FMO3 NM_006894.5(FMO3): c.*374A> G single nucleotide variant Uncertain significance rs187172674 GRCh37 Chromosome 1, 171086956: 171086956
68 FMO3 NM_006894.5(FMO3): c.*374A> G single nucleotide variant Uncertain significance rs187172674 GRCh38 Chromosome 1, 171117816: 171117816
69 FMO3 NM_006894.5(FMO3): c.628-6T> C single nucleotide variant Uncertain significance rs369396459 GRCh37 Chromosome 1, 171079933: 171079933
70 FMO3 NM_006894.5(FMO3): c.628-6T> C single nucleotide variant Uncertain significance rs369396459 GRCh38 Chromosome 1, 171110792: 171110792
71 FMO3 NM_006894.5(FMO3): c.706G> A (p.Val236Ile) single nucleotide variant Uncertain significance rs201271626 GRCh37 Chromosome 1, 171080017: 171080017
72 FMO3 NM_006894.5(FMO3): c.706G> A (p.Val236Ile) single nucleotide variant Uncertain significance rs201271626 GRCh38 Chromosome 1, 171110876: 171110876

Expression for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.

Pathways for Trimethylaminuria

Pathways related to Trimethylaminuria according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Drug metabolism - cytochrome P450 hsa00982

Pathways related to Trimethylaminuria according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 FMO1 FMO2 FMO3 FMO4 FMO5
2
Show member pathways
12.05 FMO1 FMO2 FMO3 FMO4 FMO5
3
Show member pathways
11.27 FMO1 FMO3
4
Show member pathways
11.11 FMO1 FMO3
5
Show member pathways
10.66 FMO1 FMO2 FMO3 FMO4 FMO5
6
Show member pathways
10.51 FMO3 FMO5

GO Terms for Trimethylaminuria

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

(showing 4, show less)
# 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:

(showing 6, show less)
# 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:

(showing 5, show less)
# 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 for Trimethylaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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