{"Name":"Severe primary trimethylaminuria","DiseaseID__c":"GARD:0006447","id":6447,"encodedName":"severe-primary-trimethylaminuria","IsDeleted":false,"Disease_Name_Full__c":"Severe primary trimethylaminuria","Xref_IDs__c":"1237339005; C536561; C5575503; DOID:0080361; MEDGEN:1814174; MONDO:0018767; ORPHA:468726","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018767","Disease_Description__c":"Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.","GARD_Name__c":"Severe primary trimethylaminuria","GARD_Synonym__c":"tmau","Curated_Disease_Description_Source__c":"GARD:0006447","Curated_Disease_Description__c":"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 rotten or decaying fish. As this compound builds up in the body, it causes affected people to give off a strong fishy 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 persons relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:468726","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018767","ORPHANET_ID__c":"ORPHA:468726","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trimetilaminuria primaria grave","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trimetilaminuria primaria grave","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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 rotten or decaying fish. As this compound builds up in the body, it causes affected people to give off a strong fishy 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 persons relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.","Curated_Disease_Description_Source__c":"GARD:0006447","GARD_Synonym__c":"tmau","Name":"Severe primary trimethylaminuria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"MEBO Research","Website__c":"https://meboresearch.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:468726"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:468726"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342739"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006447","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1103","Source__c":"Gene Review","Xref__c":"NBK1103"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5575503","Source__c":"C5575503","Xref__c":"C5575503"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814174","Source__c":"C5575503","Xref__c":"MEDGEN:1814174"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080361","Source__c":"MONDO:0018767","Xref__c":"DOID:0080361"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536561","Source__c":"MONDO:0018767","Xref__c":"C536561"},{"URL__c":"https://www.orpha.net/en/disease/detail/468726","Source__c":"C5575503; MONDO:0018767; ORPHA:468726","Xref__c":"ORPHA:468726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237339005","Source__c":"C5575503","Xref__c":"1237339005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018767","Source__c":"GARD:0006447","Xref__c":"MONDO:0018767"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FMO3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fmo3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008770","HPO_Synonym__c":"Obsessive-compulsive trait; Obsessive-compulsive traits","HPO_Name__c":"Obsessive-compulsive trait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of trimethylamine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003614","HPO_Synonym__c":"High urine trimethylamine levels","HPO_Name__c":"Trimethylaminuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410020","HPO_Synonym__c":"Fish odor; Fishy body odor; Fishy odor","HPO_Name__c":"Fish odor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by excessive, persistent, or contextually inappropriate negative inner experiences involving emotional arousal and valence. These experiences are often associated with negative perceptions of the self, the future, the past, or the surrounding environment, and may include affective bias such as interpreting neutral or ambiguous stimuli as negative. The intensity, duration, or impact of the state exceeds what would be expected for the individual based on their baseline emotional functioning, the context, cultural norms, or situational triggers, or when it persists despite efforts at self-regulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031467","HPO_Synonym__c":"Feeling bad; Feeling out of sorts; Foul mood; Gloomy mood; In a funk; Negative attitude; Overwhelming negative emotions; Pathologically negative emotions; Persistent negative affect state; Unregulated negative emotions","HPO_Name__c":"Dysregulated negative emotional state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031469","HPO_Synonym__c":"Worthlessness","HPO_Name__c":"Low self-esteem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468726","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011999","HPO_Synonym__c":"Paranoia","HPO_Name__c":"Paranoia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["tmau"],"spanishId":13100,"spanishName":"trimetilaminuria"}