{"orpha":468726,"name":"Severe primary trimethylaminuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TMAU"],"definition":"A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468726/","orphanet_url":"https://www.orpha.net/en/disease/detail/468726","names":{"fr":{"name":"Triméthylaminurie sévère primaire","definition":"Erreurs innées du métabolisme rares caractérisées par la présence de grandes quantités de triméthylamine dans l'urine, la sueur et l'haleine, causant une odeur corporelle caractéristique de poisson chez les personnes touchées. Bien qu'il n'y ait pas d'autres signes cliniques et symptômes, la maladie peut avoir de profondes conséquences psychosociales."},"de":{"name":"Trimethylaminurie, primäre schwere","definition":"Eine seltene angeborene Stoffwechselstörung, die durch das Vorhandensein großer Mengen von Trimethylamin in Urin, Schweiß und Atem gekennzeichnet ist und bei den Betroffenen zu einem fischigen Körpergeruch führt. Obwohl es keine zusätzlichen Anzeichen und Symptome gibt, kann der Zustand tiefgreifende psychosoziale Folgen haben."},"es":{"name":"Trimetilaminuria primaria grave","definition":"Es un error innato del metabolismo poco frecuente caracterizado por la presencia de cantidades elevadas de trimetilamina en la orina, el sudor y el aliento, lo que produce un olor corporal a pescado en los individuos afectos. Si bien no se acompaña de otros signos ni síntomas adicionales, la entidad puede tener profundas consecuencias psicosociales."},"it":{"name":"Trimetilaminuria primaria grave","definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato dalla presenza di grandi quantità di trimetilammina nelle urine, nel sudore e nel respiro, che si associano ad un odore corporeo di pesce. Sebbene i pazienti non presentino altri segni clinici, la malattia può avere notevoli conseguenze psicosociali."},"nl":{"name":"Ernstige primaire trimethylaminurie","definition":"Een zeldzaam aangeboren defect van stofwisseling, gekarakteriseerd door aanwezigheid van grote hoeveelheden trimethylamine in urine, zweet, en adem, wat resulteert in een visachtige lichaamsgeur bij getroffen individuen. Hoewel er geen bijkomende verschijnselen en symptomen zijn, kan de aandoening zeer ernstige psychosociale gevolgen hebben."},"pt":{"name":"Trimetilaminuria grave primária"},"pl":{"name":"Ciężka pierwotna trimetylaminuria","synonyms":["TMAU"]},"cs":{"name":"Těžká primární trimetylaminurie","synonyms":["TMAU"]},"uk":{"name":"Тяжка первинна триметиламінурія","synonyms":["TMAU"],"definition":"A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences."},"zh":{"name":"严重的原发性三甲基尿症","synonyms":["TMAU"]},"tr":{"name":"Ağır primer trimetilaminüri","synonyms":["TMAU"]}},"xrefs":[{"source":"OMIM","code":"602079","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.G","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575503","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6447","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"FMO3","name":"flavin containing dimethylaniline monoxygenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301282[PMID]_19321370[PMID]","hgnc":"3771","ensembl":"ENSG00000007933","omim":"136132","loci":["1q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25335494[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-28","source":"20301282[PMID]_33473342[PMID]","terms":[{"hpo":"HP:0410020","label":"Fish odor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003614","label":"Trimethylaminuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031469","label":"Low self esteem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031467","label":"Negative affectivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null}]}}