{"orpha":689822,"name":"Structural heart defects-renal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SHDRA syndrome","Severe congenital heart defects-renal anomalies syndome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689822/","orphanet_url":"https://www.orpha.net/en/disease/detail/689822","names":{"fr":{"name":"Syndrome de malformations cardiaques structurelles-anomalies rénales","synonyms":["Syndrome sévère de malformations cardiaques congénitales et d'anomalies rénales"]},"de":{"name":"Strukturelle Herzfehler-Nierenanomalien-Syndrom","synonyms":["SHDRA-Syndrom","Syndrom des schweren kongenitalen Herzdefekts mit Nierenanomalien"]},"es":{"name":"Síndrome de cardiopatías congénitas graves-anomalías renales","synonyms":["Síndrome SHDRA","Síndrome de defectos cardíacos congénitos graves-anomalías renales","Síndrome de defectos cardíacos estructurales-anomalías renales"]},"it":{"name":"Sindrome cardiopatie strutturali e anomalie renali","synonyms":["Sindrome SHDRA","Sindrome cardiopatie congenite gravi-anomalie renali"]},"nl":{"name":"Structurele hartdefecten - nieranomalieën-yndroom","synonyms":["Ernstige congenitale hartdefecten - nieranomalieën-yndroom","SHDRA-syndroom"]},"pt":{"name":"Síndrome de defeitos cardíacos estruturais-anomalias renais","synonyms":["Síndrome SHDRA","Síndrome de defeitos cardíacos congénitos graves-anomalias renais"]},"pl":{"name":"Zespół strukturalnych wad serca i nerek","synonyms":["SHDRA syndrome","Severe congenital heart defects-renal anomalies syndome"]},"cs":{"name":"Syndrom zahrnující strukturální srdeční vady a anomálie ledvin","synonyms":["SHDRA syndrome","Severe congenital heart defects-renal anomalies syndome"]}},"xrefs":[{"source":"OMIM","code":"617478","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA88.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"44321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"TMEM260","name":"transmembrane protein 260","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"37186866[PMID]_34612517[PMID]","hgnc":"20185","ensembl":"ENSG00000070269","omim":"617449","loci":["14q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"28318500[PMID]_34612517[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28318500[PMID]_34612517[PMID]_ORPHANET"}],"phenotypes":null}