{"Name":"Supravalvar aortic stenosis","DiseaseID__c":"GARD:0000743","id":743,"encodedName":"supravalvar-aortic-stenosis","IsDeleted":false,"Disease_Name_Full__c":"Supravalvar aortic stenosis","Xref_IDs__c":"268185002; C0003499; C85176; DOID:1929; MEDGEN:2001; MONDO:0008504; OMIM:185500; ORPHA:3193; Q25.3","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":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008504","Disease_Description__c":"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).","GARD_Name__c":"Supravalvar aortic stenosis","GARD_Synonym__c":"supra-valvular aortic stenosis; supravalvar aortic stenosis, eisenberg type; supravalvular aortic stenosis; supravalvular aortic stenosis (disease); svas; svas - supravalvar aortic stenosis","Curated_Disease_Description_Source__c":"GARD:0000743","Curated_Disease_Description__c":"Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3193","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008504","ORPHANET_ID__c":"ORPHA:3193","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estenosis supravalvular aórtica","Spanish_Description_Source__c":"ORPHA:3193","Spanish_Description__c":"Es una malformación aórtica poco frecuente caracterizada por el estrechamiento de la luz de la aorta (próximo a su origen), pudiendo estar asociado o no a estenosis de otras arterias (ramas de la arteria pulmonar, arterias coronarias). Este estrechamiento aórtico o de las ramas pulmonares puede obstruir el flujo sanguíneo, derivando en soplo cardíaco e hipertrofia ventricular (ventrículo izquierdo en caso de afectación aórtica y ventrículo derecho en caso de afectación de la arteria pulmonar).","Spanish_Disease_Name__c":"estenosis supravalvular aórtica","Spanish_GARD_Synonym__c":"svas","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":"Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.","Curated_Disease_Description_Source__c":"GARD:0000743","GARD_Synonym__c":"supra-valvular aortic stenosis; supravalvar aortic stenosis, eisenberg type; supravalvular aortic stenosis; supravalvular aortic stenosis (disease); svas; svas - supravalvar aortic stenosis","Name":"Supravalvar aortic stenosis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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":"All ages","Provided_By__c":"ORPHA:3193"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0003499"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000743","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2001","Source__c":"C0003499","Xref__c":"MEDGEN:2001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85176","Source__c":"C0003499; MONDO:0008504","Xref__c":"C85176"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=268185002","Source__c":"C0003499; MONDO:0008504","Xref__c":"268185002"},{"URL__c":"https://www.orpha.net/en/disease/detail/3193","Source__c":"C0003499; MONDO:0008504; ORPHA:3193","Xref__c":"ORPHA:3193"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0003499","Source__c":"C0003499","Xref__c":"C0003499"},{"URL__c":"https://www.omim.org/entry/185500","Source__c":"C0003499; MONDO:0008504; ORPHA:3193","Xref__c":"OMIM:185500"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1929","Source__c":"MONDO:0008504","Xref__c":"DOID:1929"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C021921","Source__c":"C0003499","Xref__c":"D021921"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q25.3","Source__c":"MONDO:0008504","Xref__c":"Q25.3"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008504","Source__c":"GARD:0000743","Xref__c":"MONDO:0008504"},{"URL__c":"https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis","Source__c":"GARD:0000743","Xref__c":"https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004381","Source__c":"C0003499","Xref__c":"HP:0004381"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ELN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/eln","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3193","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:3193","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3193","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004381","HPO_Name__c":"Supravalvular aortic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031664","HPO_Name__c":"Systolic heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Vascular Medicine","Pediatrics"]},"synonyms":["supra-valvular aortic stenosis"," supravalvar aortic stenosis, eisenberg type"," supravalvular aortic stenosis"," supravalvular aortic stenosis (disease)"," svas"," svas - supravalvar aortic stenosis"]}