{"Name":"PDA1","DiseaseID__c":"GARD:0007342","id":7342,"encodedName":"pda1","IsDeleted":false,"Disease_Name_Full__c":"PDA1","Xref_IDs__c":"C4282128; MEDGEN:924232; MONDO:0024560; OMIM:607411","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":"OMIM:607411","Disease_Description__c":"Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. ({4:Mitchell et al., 1971}). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis ({7:Ramsay et al., 1987}). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases ({6:Polani and Campbell, 1960}; {2:Lamy et al., 1957}), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor ({5:Nguyen et al., 1997}) and by rare syndromic forms of PDA such as Char syndrome ({169100}), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B ({601601}) ({3:Mani et al., 2002}).\\n\\n<Subhead> Genetic Heterogeneity of Patent Ductus Arteriosus\\n\\nAutosomal dominant forms of patent ductus arteriosus include PDA2 ({617035}), caused by mutation in the TFAP2B gene ({601601}) on chromosome 6p12, and PDA3 ({617039}), caused by mutation in the PRDM6 gene ({616982}) on chromosome 5q23.\\n\\n{1:Hajj and Dagle (2012)} reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.","GARD_Name__c":"PDA1","GARD_Synonym__c":"patent ductus arteriosus 1; patent ductus arteriosus, susceptibility to","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Patent ductus arteriosus (PDA) is a heart condition that affects some babies from birth. Before a baby is born, there is a blood vessel called the ductus arteriosus that helps the baby's blood flow. It moves blood from the lung artery to the aorta, which is the main artery in the body. This helps the baby get the oxygen it needs without using its lungs. After the baby is born and starts breathing, the ductus arteriosus should close so that the blood can flow normally through the lungs and the rest of the body. However, if it remains open, it is called PDA. If it is not treated, it can cause problems with the heart and lungs, like high blood pressure in the lungs and heart failure. PDA can happen to babies who are born too early, and it may go away on its own or with medicine that stops the body from making certain chemicals. The term PDA is usually not considered a genetic disorder, but it can happen again in 5% of siblings of people with PDA. This suggests that there may be a genetic part to how the disease develops, which was previously thought to be caused by many different factors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:607411","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024560","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Patent ductus arteriosus (PDA) is a heart condition that affects some babies from birth. Before a baby is born, there is a blood vessel called the ductus arteriosus that helps the baby's blood flow. It moves blood from the lung artery to the aorta, which is the main artery in the body. This helps the baby get the oxygen it needs without using its lungs. After the baby is born and starts breathing, the ductus arteriosus should close so that the blood can flow normally through the lungs and the rest of the body. However, if it remains open, it is called PDA. If it is not treated, it can cause problems with the heart and lungs, like high blood pressure in the lungs and heart failure. PDA can happen to babies who are born too early, and it may go away on its own or with medicine that stops the body from making certain chemicals. The term PDA is usually not considered a genetic disorder, but it can happen again in 5% of siblings of people with PDA. This suggests that there may be a genetic part to how the disease develops, which was previously thought to be caused by many different factors.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"patent ductus arteriosus 1; patent ductus arteriosus, susceptibility to","Name":"PDA1","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007342","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/607411","Source__c":"C4282128; MONDO:0024560","Xref__c":"OMIM:607411"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4282128","Source__c":"C4282128","Xref__c":"C4282128"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=924232","Source__c":"C4282128","Xref__c":"MEDGEN:924232"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024560","Source__c":"GARD:0007342","Xref__c":"MONDO:0024560"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607411","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"}}],"tags":{"Specialist":["Congenital Heart Disease","Vascular Medicine"]},"synonyms":["patent ductus arteriosus 1"," patent ductus arteriosus, susceptibility to"]}