{"Name":"Brunner syndrome","DiseaseID__c":"GARD:0003531","id":3531,"encodedName":"brunner-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brunner syndrome","Xref_IDs__c":"718210003; C0796275; C563156; DOID:0060693; MEDGEN:208683; MONDO:0010379; OMIM:300615; ORPHA:3057","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010379","Disease_Description__c":"Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.","GARD_Name__c":"Brunner syndrome","GARD_Synonym__c":"antisocial behavior, x-linked recessive; brnrs; brunner syndrome, x-linked recessive; deficiency of monoamine oxidase a; monoamine oxidase a deficiency","Curated_Disease_Description_Source__c":"GARD:0003531","Curated_Disease_Description__c":"Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood. Most boys with monoamine oxidase A deficiency are less able to control their impulses than their peers, causing aggressive or violent outbursts. In addition, affected individuals may have features of other neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). These features can include obsessive behaviors, difficulty forming friendships, and problems focusing attention. Sleep problems, such as trouble falling asleep or night terrors, can also occur in monoamine oxidase A deficiency. Some people with monoamine oxidase A deficiency have episodes of skin flushing, sweating, headaches, or diarrhea. Similar episodes can occur in female family members of males with monoamine oxidase A deficiency, although females do not experience other signs or symptoms of the condition. In some cases, certain foods, such as cheese, appear to worsen symptoms of monoamine oxidase A deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3057","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010379","ORPHANET_ID__c":"ORPHA:3057","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de monoamina oxidasa a","Spanish_Description_Source__c":"ORPHA:3057","Spanish_Description__c":"El déficit de monoamina oxidasa A es un trastorno muy poco frecuente del metabolismo de las aminas biogénicas recesivo ligado al X, y que se caracteriza clínicamente por un leve déficit intelectual, agresividad impulsiva y, a veces, un comportamiento violento; se presenta desde la infancia.","Spanish_Disease_Name__c":"deficiencia de monoamina oxidasa a","Spanish_GARD_Synonym__c":"síndrome de brunner","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":"Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood. Most boys with monoamine oxidase A deficiency are less able to control their impulses than their peers, causing aggressive or violent outbursts. In addition, affected individuals may have features of other neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). These features can include obsessive behaviors, difficulty forming friendships, and problems focusing attention. Sleep problems, such as trouble falling asleep or night terrors, can also occur in monoamine oxidase A deficiency. Some people with monoamine oxidase A deficiency have episodes of skin flushing, sweating, headaches, or diarrhea. Similar episodes can occur in female family members of males with monoamine oxidase A deficiency, although females do not experience other signs or symptoms of the condition. In some cases, certain foods, such as cheese, appear to worsen symptoms of monoamine oxidase A deficiency.","Curated_Disease_Description_Source__c":"GARD:0003531","GARD_Synonym__c":"antisocial behavior, x-linked recessive; brnrs; brunner syndrome, x-linked recessive; deficiency of monoamine oxidase a; monoamine oxidase a deficiency","Name":"Brunner syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"},{"Account_Name__c":"Monoamine Oxidase Deficiency Foundation (MAODF)","Website__c":"https://maodf.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3057"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796275"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003531","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796275","Source__c":"C0796275","Xref__c":"C0796275"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718210003","Source__c":"C0796275; MONDO:0010379","Xref__c":"718210003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060693","Source__c":"MONDO:0010379","Xref__c":"DOID:0060693"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563156","Source__c":"MONDO:0010379","Xref__c":"C563156"},{"URL__c":"https://www.omim.org/entry/300615","Source__c":"C0796275; MONDO:0010379; ORPHA:3057","Xref__c":"OMIM:300615"},{"URL__c":"https://www.orpha.net/en/disease/detail/3057","Source__c":"C0796275; MONDO:0010379; ORPHA:3057","Xref__c":"ORPHA:3057"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=208683","Source__c":"C0796275","Xref__c":"MEDGEN:208683"},{"URL__c":"https://medlineplus.gov/genetics/condition/monoamine-oxidase-a-deficiency","Source__c":"GARD:0003531","Xref__c":"https://medlineplus.gov/genetics/condition/monoamine-oxidase-a-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010379","Source__c":"GARD:0003531","Xref__c":"MONDO:0010379"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAOA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/maoa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3057","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3057","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["antisocial behavior, x-linked recessive"," brnrs"," brunner syndrome, x-linked recessive"," deficiency of monoamine oxidase a"," monoamine oxidase a deficiency"]}