{"Name":"Congenital vertebral-cardiac-renal anomalies syndrome","DiseaseID__c":"GARD:0017961","id":17961,"encodedName":"congenital-vertebral-cardiac-renal-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital vertebral-cardiac-renal anomalies syndrome","Xref_IDs__c":"C5680183; MEDGEN:1814457; MONDO:0020831; OMIMPS:617660; ORPHA:521438","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:521438","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","GARD_Name__c":"Congenital vertebral-cardiac-renal anomalies syndrome","GARD_Synonym__c":"congenital nad deficiency disorder; congenital vertebral, cardiac, renal anomalies syndrome; vcrl; vertebral, cardiac, renal, and limb defects syndrome","Curated_Disease_Description_Source__c":"ORPHA:521438","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:521438","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020831","ORPHANET_ID__c":"ORPHA:521438","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome congénito de anomalías vertebral-cardiaco-renales","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome congénito de anomalías vertebral-cardiaco-renales","Spanish_GARD_Synonym__c":"trastorno congénito de deficiencia de nad","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 rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.","Curated_Disease_Description_Source__c":"ORPHA:521438","GARD_Synonym__c":"congenital nad deficiency disorder; congenital vertebral, cardiac, renal anomalies syndrome; vcrl; vertebral, cardiac, renal, and limb defects syndrome","Name":"Congenital vertebral-cardiac-renal 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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:521438"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK593504","Source__c":"Gene Review","Xref__c":"NBK593504"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS617660","Source__c":"MONDO:0020831","Xref__c":"OMIMPS:617660"},{"URL__c":"https://www.orpha.net/en/disease/detail/521438","Source__c":"C5680183; MONDO:0020831; ORPHA:521438","Xref__c":"ORPHA:521438"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680183","Source__c":"C5680183","Xref__c":"C5680183"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814457","Source__c":"C5680183","Xref__c":"MEDGEN:1814457"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1260142000","Source__c":"C5680183","Xref__c":"1260142000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020831","Source__c":"GARD:0017961","Xref__c":"MONDO:0020831"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HAAO","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NADSYN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KYNU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Nephrology","Otolaryngology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital nad deficiency disorder"," congenital vertebral, cardiac, renal anomalies syndrome"," vcrl"," vertebral, cardiac, renal, and limb defects syndrome"]}