{"Name":"Right atrial isomerism","DiseaseID__c":"GARD:0006795","id":6795,"encodedName":"right-atrial-isomerism","IsDeleted":false,"Disease_Name_Full__c":"Right atrial isomerism","Xref_IDs__c":"C3178806; DOID:0060856; HP:0011536; MEDGEN:465274; MONDO:0008832; OMIM:208530; ORPHA:97548","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008832","Disease_Description__c":"A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.","GARD_Name__c":"Right atrial isomerism","GARD_Synonym__c":"asplenia with cardiovascular anomalies; isomerism of right atrial appendage; ivemark syndrome; rai; right atrial isomerism (disease); right atrial isomerism (ivemark); right sided atrial isomerism","Curated_Disease_Description_Source__c":"GARD:0006795","Curated_Disease_Description__c":"Right sided atrial isomerism is a rare congenital condition that affects multiple organ systems of the body. Right sided atrial isomerism is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. The exact cause of Right sided atrial isomerism is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene genetic changes have not been identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:97548","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008832","ORPHANET_ID__c":"ORPHA:97548","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Isomerismo auricular derecho","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"isomerismo auricular derecho","Spanish_GARD_Synonym__c":"isomerismo del apéndice auricular derecho; síndrome de ivemark","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":"Right sided atrial isomerism is a rare congenital condition that affects multiple organ systems of the body. Right sided atrial isomerism is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. The exact cause of Right sided atrial isomerism is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative gene genetic changes have not been identified.","Curated_Disease_Description_Source__c":"GARD:0006795","GARD_Synonym__c":"asplenia with cardiovascular anomalies; isomerism of right atrial appendage; ivemark syndrome; rai; right atrial isomerism (disease); right atrial isomerism (ivemark); right sided atrial isomerism","Name":"Right atrial isomerism","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Mended Hearts","Website__c":"https://mendedhearts.org/"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:97548"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006795","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/208530","Source__c":"C3178806; MONDO:0008832; ORPHA:97548","Xref__c":"OMIM:208530"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060856","Source__c":"MONDO:0008832","Xref__c":"DOID:0060856"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3178806","Source__c":"C3178806","Xref__c":"C3178806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=465274","Source__c":"C3178806","Xref__c":"MEDGEN:465274"},{"URL__c":"https://www.orpha.net/en/disease/detail/97548","Source__c":"C3178806; MONDO:0008832; ORPHA:97548","Xref__c":"ORPHA:97548"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008832","Source__c":"GARD:0006795","Xref__c":"MONDO:0008832"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011536","Source__c":"C3178806","Xref__c":"HP:0011536"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031834","HPO_Name__c":"Aortopulmonary collateral arteries","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","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":"OMIM:208530","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":"OMIM:208530","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005160","HPO_Synonym__c":"TAPVC; TAPVD; TAPVR; Total anomalous pulmonary venous connection; Total anomalous pulmonary venous drainage","HPO_Name__c":"Total anomalous pulmonary venous return","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\\"mirror reflection\\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001651","HPO_Synonym__c":"Heart tip and four chambers point towards right side of body; Thoracic situs inversus","HPO_Name__c":"Dextrocardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"Polysplenia is a congenital disease manifested by multiple small accessory spleens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001748","HPO_Synonym__c":"Accessory spleens; Multiple accessory spleens; Multiple small spleens","HPO_Name__c":"Polysplenia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","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":"OMIM:208530","Feature__r":{"HPO_Description__c":"An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031565","HPO_Name__c":"Abdominal situs ambiguus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001746","HPO_Synonym__c":"Absent spleen","HPO_Name__c":"Asplenia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","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":"OMIM:208530","Feature__r":{"HPO_Description__c":"The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001750","HPO_Synonym__c":"Common ventricle","HPO_Name__c":"Single ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011536","HPO_Name__c":"Right atrial isomerism","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"A developmental defect in the formation of pulmonary lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002101","HPO_Synonym__c":"Abnormal pulmonary lobation; Defective lung lobation; Lung segmentation defects","HPO_Name__c":"Abnormal lung lobation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","Feature__r":{"HPO_Description__c":"A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001674","HPO_Synonym__c":"Common atrioventricular canal; Complete atrioventricular canal; Complete atrioventricular septal defect; Complete common AV canal","HPO_Name__c":"Complete atrioventricular canal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:208530","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011565","HPO_Synonym__c":"Single atrium","HPO_Name__c":"Common atrium","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Gastroenterology","Congenital Heart Disease","Pediatrics"]},"synonyms":["asplenia with cardiovascular anomalies"," isomerism of right atrial appendage"," ivemark syndrome"," rai"," right atrial isomerism (disease)"," right atrial isomerism (ivemark)"," right sided atrial isomerism"]}