{"Name":"Conotruncal heart malformations","DiseaseID__c":"GARD:0008189","id":8189,"encodedName":"conotruncal-heart-malformations","IsDeleted":false,"Disease_Name_Full__c":"Conotruncal heart malformations","Xref_IDs__c":"218728005; C1857586; MEDGEN:341803; MONDO:0016581; OMIM:217095; ORPHA:2445","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016581","Disease_Description__c":"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).","GARD_Name__c":"Conotruncal heart malformations","GARD_Synonym__c":"cfc1-related conotruncal heart malformations; conotruncal heart malformations, variable; cthm; taussig-bing syndrome or defect","Curated_Disease_Description_Source__c":"MONDO:0016581","Curated_Disease_Description__c":"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2445","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016581","ORPHANET_ID__c":"ORPHA:2445","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformaciones cardíacas conotruncales","Spanish_Description_Source__c":"ORPHA:2445","Spanish_Description__c":"Son un grupo de anomalías cardíacas congénitas del tracto de salida que incluyen defectos tales como la tetralogía de Fallot, la atresia pulmonar con comunicación interventricular, la doble salida del ventrículo derecho (DORV), la doble salida del ventrículo izquierdo, el truncus arterioso y la transposición de grandes vasos (TGV), entre otros. Estos defectos se encuentran con frecuencia en afectados por el síndrome de deleción 22q11.2. También se ha asociado la deleción 22q11.2 a un subconjunto de pacientes con diversos tipos de malformaciones cardíacas conotruncales aisladas no sindrómicas (con la excepción de DORV y TGV, donde ésta es muy poco frecuente).","Spanish_Disease_Name__c":"malformaciones cardíacas conotruncales","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 group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).","Curated_Disease_Description_Source__c":"MONDO:0016581","GARD_Synonym__c":"cfc1-related conotruncal heart malformations; conotruncal heart malformations, variable; cthm; taussig-bing syndrome or defect","Name":"Conotruncal heart malformations","estimateUsa":""}],"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"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CCHD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1857586"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341803","Source__c":"C1857586","Xref__c":"MEDGEN:341803"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=218728005","Source__c":"MONDO:0016581","Xref__c":"218728005"},{"URL__c":"https://www.omim.org/entry/217095","Source__c":"C1857586; MONDO:0016581; ORPHA:2445","Xref__c":"OMIM:217095"},{"URL__c":"https://www.orpha.net/en/disease/detail/2445","Source__c":"C1857586; MONDO:0016581; ORPHA:2445","Xref__c":"ORPHA:2445"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857586","Source__c":"C1857586","Xref__c":"C1857586"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016581","Source__c":"GARD:0008189","Xref__c":"MONDO:0016581"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NKX2-6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NKX2-5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:217095","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217095","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":"OMIM:217095","Feature__r":{"HPO_Description__c":"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001719","HPO_Synonym__c":"DORV; Double-outlet right ventricle","HPO_Name__c":"Double outlet right ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217095","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217095","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:217095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217095","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:217095","Feature__r":{"HPO_Description__c":"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001660","HPO_Synonym__c":"Common arterial trunk","HPO_Name__c":"Truncus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:217095","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease"],"Disease Category":["Congenital Abnormality"]},"synonyms":["cfc1-related conotruncal heart malformations"," conotruncal heart malformations, variable"," cthm"," taussig-bing syndrome or defect"]}