{"Name":"Cardiac anomalies-heterotaxy syndrome","DiseaseID__c":"GARD:0019883","id":19883,"encodedName":"cardiac-anomalies-heterotaxy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cardiac anomalies-heterotaxy syndrome","Xref_IDs__c":"C4303970; MEDGEN:929639; MONDO:0015296; ORPHA:137628","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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:0015296","Disease_Description__c":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.","GARD_Name__c":"Cardiac anomalies-heterotaxy syndrome","GARD_Synonym__c":"cardiac anomaly and heterotaxy syndrome","Curated_Disease_Description_Source__c":"ORPHA:137628","Curated_Disease_Description__c":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:137628","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015296","ORPHANET_ID__c":"ORPHA:137628","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anomalías cardíacas-heterotaxia","Spanish_Description_Source__c":"ORPHA:137628","Spanish_Description__c":"Este síndrome se caracteriza por la no compactación del miocardio ventricular, bradicardia, estenosis de la válvula pulmonar y defecto septal auricular tipo secundum. Los defectos de lateralización también están presentes. Hasta el momento, el síndrome se ha descrito en nueve miembros de una misma familia, pertenecientes a tres generaciones diferentes. La transmisión es autosómica dominante y se ha asociado a la región cromosómica 6p24.3-21.2.","Spanish_Disease_Name__c":"síndrome de anomalías cardíacas-heterotaxia","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":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.","Curated_Disease_Description_Source__c":"ORPHA:137628","GARD_Synonym__c":"cardiac anomaly and heterotaxy syndrome","Name":"Cardiac anomalies-heterotaxy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:137628"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137628"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:137628"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/137628","Source__c":"C4303970; MONDO:0015296; ORPHA:137628","Xref__c":"ORPHA:137628"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929639","Source__c":"C4303970","Xref__c":"MEDGEN:929639"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303970","Source__c":"C4303970","Xref__c":"C4303970"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015296","Source__c":"GARD:0019883","Xref__c":"MONDO:0015296"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720605009","Source__c":"C4303970","Xref__c":"720605009"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Pediatrics"]},"synonyms":["cardiac anomaly and heterotaxy syndrome"]}