{"Name":"Coarctation of aorta","DiseaseID__c":"GARD:0005828","id":5828,"encodedName":"coarctation-of-aorta","IsDeleted":false,"Disease_Name_Full__c":"Coarctation of aorta","Xref_IDs__c":"7305005; C0003492; C84567; D001017; DOID:0051054; HP:0001680; MEDGEN:1617; MONDO:0007345; OMIM:120000; ORPHA:1457; Q25.1","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0007345","Disease_Description__c":"Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.","GARD_Name__c":"Coarctation of aorta","GARD_Synonym__c":"aorta coarctation; aortic coarctation; coarctation; coarctation of the aorta; narrowing of aorta; narrowing of the aorta","Curated_Disease_Description_Source__c":"MONDO:0007345","Curated_Disease_Description__c":"Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1457","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007345","ORPHANET_ID__c":"ORPHA:1457","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coartación aórtica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"coartación aórtica","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 narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.","Curated_Disease_Description_Source__c":"MONDO:0007345","GARD_Synonym__c":"aorta coarctation; aortic coarctation; coarctation; coarctation of the aorta; narrowing of aorta; narrowing of the aorta","Name":"Coarctation of aorta","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquering CHD","Website__c":"https://www.conqueringchd.org/"},{"Account_Name__c":"Adult Congenital Heart Association","Website__c":"https://www.achaheart.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":"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":"Infancy","Provided_By__c":"ORPHA:1457"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1457"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1457"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1457"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1457"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0003492"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0003492","Source__c":"C0003492","Xref__c":"C0003492"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84567","Source__c":"C0003492; MONDO:0007345","Xref__c":"C84567"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001017","Source__c":"C0003492; MONDO:0007345","Xref__c":"D001017"},{"URL__c":"https://www.omim.org/entry/120000","Source__c":"C0003492; MONDO:0007345; ORPHA:1457","Xref__c":"OMIM:120000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1617","Source__c":"C0003492","Xref__c":"MEDGEN:1617"},{"URL__c":"https://www.orpha.net/en/disease/detail/1457","Source__c":"C0003492; MONDO:0007345; ORPHA:1457","Xref__c":"ORPHA:1457"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q25.1","Source__c":"MONDO:0007345","Xref__c":"Q25.1"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=7305005","Source__c":"C0003492; MONDO:0007345","Xref__c":"7305005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007345","Source__c":"GARD:0005828","Xref__c":"MONDO:0007345"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001680","Source__c":"C0003492","Xref__c":"HP:0001680"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051054","Source__c":"MONDO:0007345","Xref__c":"DOID:0051054"}],"Inheritance__c":["Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011682","HPO_Synonym__c":"Conoventricular ventricular septal defect; Membranous ventricular septal defect; Paramembranous ventricular septal defect; Perimembraneous ventricular septal defect; Type 2 ventricular septal defect","HPO_Name__c":"Perimembranous ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001647","HPO_Synonym__c":"Aortic valve has two leaflets rather than three","HPO_Name__c":"Bicuspid aortic valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010883","HPO_Synonym__c":"Aortic atresia","HPO_Name__c":"Aortic valve atresia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the arch of aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012304","HPO_Synonym__c":"Aortic arch hypoplasia; Underdeveloped aortic arch","HPO_Name__c":"Hypoplastic aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012305","HPO_Name__c":"Coarctation of the descending aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","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:1457","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Non-continuity of the arch of aorta with an atretic point or absent segment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011611","HPO_Synonym__c":"Atretic transverse aortic arch","HPO_Name__c":"Interrupted aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005295","HPO_Name__c":"Pseudocoarctation of the aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe congenital heart defect characterized by underdevelopment of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004383","HPO_Synonym__c":"Heart left ventricle hypoplasia; Left ventricular hypoplasia; Underdeveloped left heart","HPO_Name__c":"Hypoplastic left ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1457","HPO_Frequency__c":"Occasional (5-29%)","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:1457","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:1457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the outflow tract of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011103","HPO_Synonym__c":"Abnormality of the left ventricular outflow tract","HPO_Name__c":"Abnormal left ventricular outflow tract 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":["aorta coarctation"," aortic coarctation"," coarctation"," coarctation of the aorta"," narrowing of aorta"," narrowing of the aorta"]}