{"Name":"Postural orthostatic tachycardia syndrome","DiseaseID__c":"GARD:0013591","id":13591,"encodedName":"postural-orthostatic-tachycardia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Postural orthostatic tachycardia syndrome","Xref_IDs__c":"371073003; C1299624; C85020; D054972; DOID:0111154; MEDGEN:226970; MONDO:0011479; OMIM:604715; ORPHA:443236","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011479","Disease_Description__c":"A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.","GARD_Name__c":"Postural orthostatic tachycardia syndrome","GARD_Synonym__c":"chronic othostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; orhtostatic intolerance; orthostatic intolerance due to net deficiency; postural orthostatic tachycardia syndrome due to net deficiency; postural tachycardia syndrome; postural tachycardia syndrome due to net deficiency; pots; pots - postural orthostatic tachycardia syndrome; pots - postural tachycardia syndrome; pots due to net deficiency; soldiers heart","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Postural orthostatic tachycardia syndrome (POTS) due to NET deficiency is a rare genetic disorder that affects the way your body responds to changes in position. It can cause symptoms such as dizziness, palpitations, fatigue, blurred vision, and a fast heartbeat when you move from lying down to standing up, even when your blood pressure remains normal. You may also experience fainting, confusion, and shortness of breath. This condition is caused by a deficiency in the norepinephrine transporter, which leads to abnormal uptake and high plasma concentrations of norepinephrine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:443236","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011479","ORPHANET_ID__c":"ORPHA:443236","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de taquicardia ortostática postural por deficiencia de net","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de taquicardia ortostática postural por deficiencia de net","Spanish_GARD_Synonym__c":"intolerancia ortostática por deficiencia de net; pots por deficiencia de net; taquicardia ortostática familiar por deficiencia del transportador de norepinefrina","Category_Linearization__c":"ORPHA:98006","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":"Postural orthostatic tachycardia syndrome (POTS) due to NET deficiency is a rare genetic disorder that affects the way your body responds to changes in position. It can cause symptoms such as dizziness, palpitations, fatigue, blurred vision, and a fast heartbeat when you move from lying down to standing up, even when your blood pressure remains normal. You may also experience fainting, confusion, and shortness of breath. This condition is caused by a deficiency in the norepinephrine transporter, which leads to abnormal uptake and high plasma concentrations of norepinephrine.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"chronic othostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; orhtostatic intolerance; orthostatic intolerance due to net deficiency; postural orthostatic tachycardia syndrome due to net deficiency; postural tachycardia syndrome; postural tachycardia syndrome due to net deficiency; pots; pots - postural orthostatic tachycardia syndrome; pots - postural tachycardia syndrome; pots due to net deficiency; soldiers heart","Name":"Postural orthostatic tachycardia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Standing Up To POTS","Website__c":"http://standinguptopots.org/"},{"Account_Name__c":"Dysautonomia International","Website__c":"https://www.dysautonomiainternational.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Syncope Trust and Reflex Anoxic Seizures","Website__c":"https://www.heartrhythmalliance.org/stars/uk"},{"Account_Name__c":"Dysautonomia Support Network","Website__c":"https://www.dysautonomiasupport.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:443236"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013591","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85020","Source__c":"C1299624; MONDO:0011479","Xref__c":"C85020"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371073003","Source__c":"C1299624; MONDO:0011479","Xref__c":"371073003"},{"URL__c":"https://www.orpha.net/en/disease/detail/443236","Source__c":"C1299624; MONDO:0011479","Xref__c":"ORPHA:443236"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1299624","Source__c":"C1299624","Xref__c":"C1299624"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226970","Source__c":"C1299624","Xref__c":"MEDGEN:226970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054972","Source__c":"C1299624; MONDO:0011479","Xref__c":"D054972"},{"URL__c":"https://www.omim.org/entry/604715","Source__c":"MONDO:0011479; ORPHA:443236","Xref__c":"OMIM:604715"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111154","Source__c":"MONDO:0011479","Xref__c":"DOID:0111154"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011479","Source__c":"GARD:0013591","Xref__c":"MONDO:0011479"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/postural-tachycardia-syndrome-pots"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC6A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604715","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003345","HPO_Name__c":"Elevated urinary norepinephrine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:604715","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in heart rate with standing of 30 beats per minute or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012173","HPO_Synonym__c":"Postural tachycardia","HPO_Name__c":"Orthostatic tachycardia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"]},"synonyms":["chronic othostatic intolerance"," familial orthostatic tachycardia due to norepinephrine transporter deficiency"," irritable heart"," orhtostatic intolerance"," orthostatic intolerance due to net deficiency"," postural orthostatic tachycardia syndrome due to net deficiency"," postural tachycardia syndrome"," postural tachycardia syndrome due to net deficiency"," pots"," pots - postural orthostatic tachycardia syndrome"," pots - postural tachycardia syndrome"," pots due to net deficiency"," soldiers heart"]}