{"Name":"Congenital pulmonary veins atresia or stenosis","DiseaseID__c":"GARD:0004598","id":4598,"encodedName":"congenital-pulmonary-veins-atresia-or-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Congenital pulmonary veins atresia or stenosis","Xref_IDs__c":"234062003; C5680865; MEDGEN:1826176; MONDO:0017864; ORPHA:3188","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017864","Disease_Description__c":"A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.","GARD_Name__c":"Congenital pulmonary veins atresia or stenosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0004598","Curated_Disease_Description__c":"Congenital pulmonary veins atresia or stenosis is a condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Congenital pulmonary veins atresia or stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3188","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017864","ORPHANET_ID__c":"ORPHA:3188","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estenosis o atresia congénita de las venas pulmonares","Spanish_Description_Source__c":"ORPHA:3188","Spanish_Description__c":"Es una anomalía de grandes vasos, progresiva y poco frecuente, potencialmente mortal. Se caracteriza por el estrechamiento y la obstrucción de una o más venas pulmonares (VP) en su conexión normal con la aurícula izquierda. Por lo general, se presenta durante la lactancia temprana con disnea, taquipnea, e infecciones pulmonares recurrentes y, eventualmente, cuando todas las venas pulmonares de un pulmón están afectadas, provocan hipertensión pulmonar (HP) e hipertensión arterial pulmonarsecundaria (HAP). Puede manifestarse como una lesión aislada o asociada a otros defectos cardíacos, tales como drenaje venoso pulmonar ánomalo congénito y defectos septales.","Spanish_Disease_Name__c":"estenosis o atresia congénita de las venas pulmonares","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Congenital pulmonary veins atresia or stenosis is a condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Congenital pulmonary veins atresia or stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension.","Curated_Disease_Description_Source__c":"GARD:0004598","Name":"Congenital pulmonary veins atresia or stenosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"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":"Childhood","Provided_By__c":"ORPHA:3188"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3188","Source__c":"C5680865; MONDO:0017864; ORPHA:3188","Xref__c":"ORPHA:3188"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680865","Source__c":"C5680865","Xref__c":"C5680865"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826176","Source__c":"C5680865","Xref__c":"MEDGEN:1826176"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234062003","Source__c":"MONDO:0017864","Xref__c":"234062003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017864","Source__c":"GARD:0004598","Xref__c":"MONDO:0017864"}],"tags":{"Specialist":["Cardiology","Pulmonology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"Disease Category":["Pulmonology","Congenital Abnormality"]},"synonyms":[""]}