{"Name":"Pulmonary atresia with intact ventricular septum","DiseaseID__c":"GARD:0004600","id":4600,"encodedName":"pulmonary-atresia-with-intact-ventricular-septum","IsDeleted":false,"Disease_Name_Full__c":"Pulmonary atresia with intact ventricular septum","Xref_IDs__c":"253590009; C0344975; C562832; C99032; MEDGEN:87491; MONDO:0009931; OMIM:265150; ORPHA:1208","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":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009931","Disease_Description__c":"A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.","GARD_Name__c":"Pulmonary atresia with intact ventricular septum","GARD_Synonym__c":"paiv - pulmonary atresia with intact ventricular septum; pulmonary atresia-intact ventricular septum syndrome; pulmonary valve atresia with intact ventricular septum","Curated_Disease_Description_Source__c":"MONDO:0009931","Curated_Disease_Description__c":"A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:1208","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009931","ORPHANET_ID__c":"ORPHA:1208","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de atresia pulmonar-septo ventricular íntegro","Spanish_Description_Source__c":"ORPHA:1208","Spanish_Description__c":"Es una malformación cardíaca poco frecuente caracterizada por atresia congénita, bien membranosa o muscular con segmento largo del tracto de salida del ventrículo derecho en ausencia de comunicación interventricular. El espectro varía desde atresia pulmonar membranosa simple con ventrículo derecho (VD) de apariencia normal hasta VD hipoplásico con conexiones anómalas entre el VD y las arterias coronarias. Los principales síntomas de presentación son cianosis y desaturación.","Spanish_Disease_Name__c":"síndrome de atresia pulmonar-septo ventricular íntegro","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":"A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.","Curated_Disease_Description_Source__c":"MONDO:0009931","GARD_Synonym__c":"paiv - pulmonary atresia with intact ventricular septum; pulmonary atresia-intact ventricular septum syndrome; pulmonary valve atresia with intact ventricular septum","Name":"Pulmonary atresia with intact ventricular septum","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Antenatal","Provided_By__c":"ORPHA:1208"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1208"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1208"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CCHD"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/265150","Source__c":"C0344975; MONDO:0009931; ORPHA:1208","Xref__c":"OMIM:265150"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344975","Source__c":"C0344975","Xref__c":"C0344975"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99032","Source__c":"C0344975; MONDO:0009931","Xref__c":"C99032"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87491","Source__c":"C0344975","Xref__c":"MEDGEN:87491"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253590009","Source__c":"C0344975; MONDO:0009931","Xref__c":"253590009"},{"URL__c":"https://www.orpha.net/en/disease/detail/1208","Source__c":"C0344975; MONDO:0009931; ORPHA:1208","Xref__c":"ORPHA:1208"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562832","Source__c":"MONDO:0009931","Xref__c":"C562832"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009931","Source__c":"GARD:0004600","Xref__c":"MONDO:0009931"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004935","HPO_Synonym__c":"Atresia of the pulmonary artery; Pulmonary atresia","HPO_Name__c":"Pulmonary artery atresia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the tricuspid valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001702","HPO_Synonym__c":"Abnormality of the tricuspid valve","HPO_Name__c":"Abnormal tricuspid valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["paiv - pulmonary atresia with intact ventricular septum"," pulmonary atresia-intact ventricular septum syndrome"," pulmonary valve atresia with intact ventricular septum"]}