{"Name":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","DiseaseID__c":"GARD:0017148","id":17148,"encodedName":"patent-ductus-arteriosus-bicuspid-aortic-valve-hand-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","Xref_IDs__c":"C1858420; C565782; MEDGEN:346902; MONDO:0011454; OMIM:604381; ORPHA:228190","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011454","Disease_Description__c":"A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia.","GARD_Name__c":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","GARD_Synonym__c":"patent arterial duct-bicuspid aortic valve-hand anomalies syndrome; patent ductus arteriosus and bicuspid aortic valve with hand anomalies","Curated_Disease_Description_Source__c":"ORPHA:228190","Curated_Disease_Description__c":"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:228190","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011454","ORPHANET_ID__c":"ORPHA:228190","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ductus arterioso persistente-válvula aórtica bicúspide-anomalías de las manos","Spanish_Description_Source__c":"ORPHA:228190","Spanish_Description__c":"El síndrome de ductus arterioso persistente - válvula aórtica bicúspide - anomalías de las manos es una forma muy poco frecuente del síndrome corazón-mano (consulte este término), que se caracteriza por una variedad de anomalías cardiovasculares incluyendo ductus arterioso persistente, válvula aórtica bicúspide y pseudocoartación de la aorta junto con anomalías de las manos como braquidactilia y derivadas del eje cubital, p.e. hipoplasia del quinto metacarpiano. La transmisión más probable es la autosómica dominante. El patrón de transmisión más probable es el autosómico dominante.","Spanish_Disease_Name__c":"síndrome de ductus arterioso persistente-válvula aórtica bicúspide-anomalías de las manos","Spanish_GARD_Synonym__c":"conducto arterioso persistente-válvula aórtica bicúspide-anomalías de las manos","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":"Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:228190","GARD_Synonym__c":"patent arterial duct-bicuspid aortic valve-hand anomalies syndrome; patent ductus arteriosus and bicuspid aortic valve with hand anomalies","Name":"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:228190"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:228190"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858420","Source__c":"C1858420","Xref__c":"C1858420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346902","Source__c":"C1858420","Xref__c":"MEDGEN:346902"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565782","Source__c":"MONDO:0011454","Xref__c":"C565782"},{"URL__c":"https://www.orpha.net/en/disease/detail/228190","Source__c":"C1858420; MONDO:0011454","Xref__c":"ORPHA:228190"},{"URL__c":"https://www.omim.org/entry/604381","Source__c":"C1858420; MONDO:0011454; ORPHA:228190","Xref__c":"OMIM:604381"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011454","Source__c":"GARD:0017148","Xref__c":"MONDO:0011454"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011927","HPO_Synonym__c":"Short digit","HPO_Name__c":"Short digit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short fifth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010047","HPO_Synonym__c":"Fifth metacarpal hypoplasia; Hypoplastic 5th metacarpal; Short fifth metacarpal; Short fifth metacarpals; Shortened 5th long bone of hand","HPO_Name__c":"Short 5th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005922","HPO_Synonym__c":"Abnormal shape of hand","HPO_Name__c":"Abnormal hand morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Always (100%)","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:228190","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:228190","HPO_Frequency__c":"Always (100%)","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:228190","HPO_Frequency__c":"Always (100%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"," patent ductus arteriosus and bicuspid aortic valve with hand anomalies"]}