{"Name":"Pulmonary arterial hypertension","DiseaseID__c":"GARD:0007501","id":7501,"encodedName":"pulmonary-arterial-hypertension","IsDeleted":false,"Disease_Name_Full__c":"Pulmonary arterial hypertension","Xref_IDs__c":"11399002; C157552; C2973725; D000081029; HP:0002092; MEDGEN:425404; MONDO:0015924; ORPHA:182090","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015924","Disease_Description__c":"Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).","GARD_Name__c":"Pulmonary arterial hypertension","GARD_Synonym__c":"hypertensive pulmonary arterial disease; increased blood pressure in blood vessels of lungs; pah; primary pulmonary hypertension; pulmonary artery hypertension; pulmonary hypertensive arterial disease","Curated_Disease_Description_Source__c":"GARD:0007501","Curated_Disease_Description__c":"Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart. Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens.  Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:182090","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015924","ORPHANET_ID__c":"ORPHA:182090; ORPHA:422","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertensión arterial pulmonar","Spanish_Description_Source__c":"ORPHA:182090","Spanish_Description__c":"Es un grupo de enfermedades caracterizadas por una elevada resistencia arterial pulmonar conducente a una insuficiencia cardíaca derecha. La HAP es progresiva y potencialmente fatal. La HAP puede ser idiopática y/o familiar, o inducida por fármacos o toxinas (HAP inducida por un fármaco o toxina). También puede estar asociada a otras enfermedades, tales como cardiopatía congénita, enfermedad del tejido conectivo, VIH, esquistosomiasis e hipertensión portal (HAP asociada a otras enfermedades).","Spanish_Disease_Name__c":"hipertensión arterial pulmonar","Spanish_GARD_Synonym__c":"hap","Category_Linearization__c":"ORPHA:97955","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":"Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart. Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens.  Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.","Curated_Disease_Description_Source__c":"GARD:0007501","GARD_Synonym__c":"hypertensive pulmonary arterial disease; increased blood pressure in blood vessels of lungs; pah; primary pulmonary hypertension; pulmonary artery hypertension; pulmonary hypertensive arterial disease","Name":"Pulmonary arterial hypertension","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pulmonary Hypertension Association","Website__c":"https://www.phassociation.org/"},{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Phaware Global Association","Website__c":"https://www.phaware.global/"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:182090"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0152171"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3203102"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=11399002","Source__c":"C2973725; MONDO:0015924","Xref__c":"11399002"},{"URL__c":"https://www.orpha.net/en/disease/detail/182090","Source__c":"C2973725; MONDO:0015924; ORPHA:182090","Xref__c":"ORPHA:182090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=425404","Source__c":"C2973725","Xref__c":"MEDGEN:425404"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2973725","Source__c":"C2973725","Xref__c":"C2973725"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000081029","Source__c":"MONDO:0015924","Xref__c":"D000081029"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002092","Source__c":"C2973725","Xref__c":"HP:0002092"},{"URL__c":"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension","Source__c":"GARD:0007501","Xref__c":"https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015924","Source__c":"GARD:0007501","Xref__c":"MONDO:0015924"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C157552","Source__c":"C2973725","Xref__c":"C157552"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Vascular Medicine","Pediatrics"]},"synonyms":["hypertensive pulmonary arterial disease"," increased blood pressure in blood vessels of lungs"," pah"," primary pulmonary hypertension"," pulmonary artery hypertension"," pulmonary hypertensive arterial disease"]}