{"orpha":726799,"name":"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TSHZ3-related CAKUT-intellectual disability syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726799/","orphanet_url":"https://www.orpha.net/en/disease/detail/726799","names":{"fr":{"name":"Syndrome d'anomalies congénitales des reins et des voies urinaires-déficience intellectuelle associé à TSHZ3","synonyms":["Syndrome de CAKUT-déficience intellectuelle associé à TSHZ3"]},"de":{"name":"Syndromale kongenitale Fehlbildungen der Nieren und Harnwege mit Intelligenzminderung, TSHZ3-assoziiert","synonyms":["TSHZ3-assoziiertes CAKUT-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de anomalías congénitas renales y del tracto urinario-discapacidad intelectual asociado al gen TSHZ3","synonyms":["Síndrome CAKUT-discapacidad intelectual asociado al gen TSHZ3"]},"it":{"name":"Sindrome anomalie congenite dei reni e delle vie urinarie-disabilità intellettiva correlata a TSHZ3","synonyms":["Sindrome CAKUT-disabilità intellettiva correlata a TSHZ3"]},"nl":{"name":"TSHZ3-gerelateerd congenitale anomalieën van nier of urinewegen - intellectuele achterstand-syndroom","synonyms":["TSHZ3-gerelateerd CAKUT - intellectuele achterstand-syndroom"]},"pt":{"name":"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome"},"pl":{"name":"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome","synonyms":["TSHZ3-related CAKUT-intellectual disability syndrome"]},"cs":{"name":"TSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndrome","synonyms":["TSHZ3-related CAKUT-intellectual disability syndrome"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"TSHZ3","name":"teashirt zinc finger homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36553458[PMID]_39420202[PMID]","hgnc":"30700","ensembl":"ENSG00000121297","omim":"614119","loci":["19q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}