{"Name":"Tricuspid atresia","DiseaseID__c":"GARD:0005274","id":5274,"encodedName":"tricuspid-atresia","IsDeleted":false,"Disease_Name_Full__c":"Tricuspid atresia","Xref_IDs__c":"423022595; 63042009; C0243002; C85202; D018785; DOID:0080169; HP:0011662; MEDGEN:67034; MONDO:0011514; OMIM:605067; ORPHA:1209","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011514","Disease_Description__c":"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.","GARD_Name__c":"Tricuspid atresia","GARD_Synonym__c":"congenital atresia of tricuspid valve; imperforate right atrioventricular valve; right atrioventricular valve atresia; tricuspid atresia (disease); tricuspid valve atresia","Curated_Disease_Description_Source__c":"MONDO:0011514","Curated_Disease_Description__c":"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1209","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011514","ORPHANET_ID__c":"ORPHA:1209","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia tricuspídea","Spanish_Description_Source__c":"ORPHA:1209","Spanish_Description__c":"Es una malformación cardíaca congénita poco frecuente caracterizada por la ausencia de anillo valvular tricúspide (ausencia de conexión/unión auriculoventricular derecha) o por una válvula tricúspide imperforada que deriva en una grave hipoplasia del ventrículo derecho (corazón funcionalmente univentricular). La malformación se asocia a grandes vasos normalmente conectados (70 a 80% de los casos) o bien a grandes vasos transpuestos, un cortocircuito obligado interauricular que es crucial para la supervivencia (foramen oval permeable o comunicación interauricular, tipo ostium secundum), una comunicación interventricular (CIV), una obstrucción del flujo pulmonar (atresia, estenosis o hipoplasia pulmonar), una coartación aórtica y/o interrupción del arco aórtico.","Spanish_Disease_Name__c":"atresia tricuspídea","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 congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.","Curated_Disease_Description_Source__c":"MONDO:0011514","GARD_Synonym__c":"congenital atresia of tricuspid valve; imperforate right atrioventricular valve; right atrioventricular valve atresia; tricuspid atresia (disease); tricuspid valve atresia","Name":"Tricuspid atresia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquering CHD","Website__c":"https://www.conqueringchd.org/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1209"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1209"}],"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.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080169","Source__c":"MONDO:0011514","Xref__c":"DOID:0080169"},{"URL__c":"https://www.omim.org/entry/605067","Source__c":"C0243002; MONDO:0011514; ORPHA:1209","Xref__c":"OMIM:605067"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018785","Source__c":"C0243002; MONDO:0011514","Xref__c":"D018785"},{"URL__c":"https://www.orpha.net/en/disease/detail/1209","Source__c":"C0243002; MONDO:0011514; ORPHA:1209","Xref__c":"ORPHA:1209"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63042009","Source__c":"C0243002; MONDO:0011514","Xref__c":"63042009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=67034","Source__c":"C0243002","Xref__c":"MEDGEN:67034"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0243002","Source__c":"C0243002","Xref__c":"C0243002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85202","Source__c":"C0243002; MONDO:0011514","Xref__c":"C85202"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253455004","Source__c":"C0243002","Xref__c":"253455004"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011662","Source__c":"C0243002","Xref__c":"HP:0011662"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011514","Source__c":"GARD:0005274","Xref__c":"MONDO:0011514"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022595","Xref__c":"423022595"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001655","HPO_Synonym__c":"Persistent foramen ovale; PFO","HPO_Name__c":"Patent foramen ovale","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001680","HPO_Synonym__c":"Aortic coarctation; Coarctation of the aorta; Narrowing of aorta; Narrowing of the aorta","HPO_Name__c":"Coarctation of aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011662","HPO_Synonym__c":"Tricuspid valve atresia","HPO_Name__c":"Tricuspid atresia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Occasional (5-29%)","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:1209","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001669","HPO_Synonym__c":"TGA; TGV; Transposition of great vessels","HPO_Name__c":"Transposition of the great arteries","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004762","HPO_Synonym__c":"Heart right ventricle hypoplasia; Small right heart chamber; Underdeveloped right heart chamber","HPO_Name__c":"Hypoplasia of right ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005301","HPO_Synonym__c":"PLSVC","HPO_Name__c":"Persistent left superior vena cava","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1209","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["congenital atresia of tricuspid valve"," imperforate right atrioventricular valve"," right atrioventricular valve atresia"," tricuspid atresia (disease)"," tricuspid valve atresia"]}