{"Name":"Heritable pulmonary arterial hypertension","DiseaseID__c":"GARD:0011914","id":11914,"encodedName":"heritable-pulmonary-arterial-hypertension","IsDeleted":false,"Disease_Name_Full__c":"Heritable pulmonary arterial hypertension","Xref_IDs__c":"697897003; C0340543; C121945; MEDGEN:90953; MONDO:0017148; NBK1485; OMIMPS:178600; ORPHA:275777","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017148","Disease_Description__c":"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","GARD_Name__c":"Heritable pulmonary arterial hypertension","GARD_Synonym__c":"familial primary pulmonary hypertension; familial pulmonary arterial hypertension; fpah; hereditary pulmonary arterial hypertension; hpah","Curated_Disease_Description_Source__c":"MONDO:0017148","Curated_Disease_Description__c":"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:275777","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017148","ORPHANET_ID__c":"ORPHA:275777","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertensión arterial pulmonar hereditaria","Spanish_Description_Source__c":"ORPHA:275777","Spanish_Description__c":"Es una forma de hipertensión arterial pulmonar (HAP) que se presenta con agregación familiar y/o en relación con mutaciones en ciertos genes de predisposición a HAP. La HAPH se caracteriza por una elevada resistencia arterial pulmonar que causa insuficiencia cardíaca derecha. La HAPH es progresiva y potencialmente fatal.","Spanish_Disease_Name__c":"hipertensión arterial pulmonar hereditaria","Spanish_GARD_Synonym__c":"fpah; haph; hipertensión arterial pulmonar familiar","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":"Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.","Curated_Disease_Description_Source__c":"MONDO:0017148","GARD_Synonym__c":"familial primary pulmonary hypertension; familial pulmonary arterial hypertension; fpah; hereditary pulmonary arterial hypertension; hpah","Name":"Heritable pulmonary arterial hypertension","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Phaware Global Association","Website__c":"https://www.phaware.global/"},{"Account_Name__c":"Pulmonary Hypertension Association","Website__c":"https://www.phassociation.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":"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:275777"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1485","Source__c":"Gene Review","Xref__c":"NBK1485"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=697897003","Source__c":"C0340543; MONDO:0017148","Xref__c":"697897003"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS178600","Source__c":"MONDO:0017148","Xref__c":"OMIMPS:178600"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121945","Source__c":"C0340543; MONDO:0017148","Xref__c":"C121945"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340543","Source__c":"C0340543","Xref__c":"C0340543"},{"URL__c":"https://www.orpha.net/en/disease/detail/275777","Source__c":"C0340543; MONDO:0017148; ORPHA:275777","Xref__c":"ORPHA:275777"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90953","Source__c":"C0340543","Xref__c":"MEDGEN:90953"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017148","Source__c":"GARD:0011914","Xref__c":"MONDO:0017148"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065627","Source__c":"C0340543","Xref__c":"D065627"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233944003","Source__c":"C0340543","Xref__c":"233944003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CAV1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cav1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EIF2AK4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/eif2ak4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATP13A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TBX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SMAD9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BMPR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bmpr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNK3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Vascular Medicine","Pediatrics"]},"synonyms":["familial primary pulmonary hypertension"," familial pulmonary arterial hypertension"," fpah"," hereditary pulmonary arterial hypertension"," hpah"]}