{"orpha":293633,"name":"PYCR1-related De Barsy syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PYCR1 deficiency","Pyrroline-5-carboxylate reductase 1 deficiency"],"definition":null,"note":"This disease is described under De Barsy syndrome","url":"https://raremap.alftech.space/d/ORPHA-293633/","orphanet_url":"https://www.orpha.net/en/disease/detail/293633","names":{"fr":{"name":"Syndrome de De Barsy associé à PYCR1","synonyms":["Déficit en PYCR1","Déficit en pyrroline-5-carboxylate réductase 1"]},"de":{"name":"PYCR1-assoziiertes De Barsy-Syndrom","synonyms":["PYCR1-Mangel","Pyrrolin-5-Carboxylat-Reduktase 1-Mangel"]},"es":{"name":"Síndrome de De Barsy asociado a PYCR1"},"it":{"name":"Sindrome di De Barsy correlata a PYCR1"},"nl":{"name":"PYCR1-gerelateerd syndroom van De Barsy","synonyms":["Deficiëntie van pyrroline-5-carboxylaatreductase 1","PYCR1-deficiëntie"]},"pt":{"name":"Síndrome De Barsy PYCR1-relacionado"},"pl":{"name":"Zespół DeBarsy","synonyms":["Niedobór PYCR1","Niedobór reduktazy 1 5-karboksylanu piroliny"]},"cs":{"name":"PYCR1-vázaný De Barsyův syndrom","synonyms":["Deficit PYCR1","Deficit pyrrolidin-5-karboxylát reduktázy 1"]},"uk":{"name":"Синдром де Барсі, повязаний з PYCR1","synonyms":["Дефіцит PYCR1","Дефіцит піролін-5-карбоксилатредуктази 1"]},"zh":{"name":"PYCR1基因相关De Barsy综合征","synonyms":["吡咯啉-5-羧酸还原酶1缺乏症"]},"tr":{"name":"PYCR1-ilişkili De Barsy sendromu","synonyms":["PYCR1 eksikliği","Pirolin-5-karboksilat redüktaz 1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614438","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013755","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280799","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2962,"name":"De Barsy syndrome","classifications":[147,150,156,181,182,186,187,189]}],"children":[],"genes":[{"symbol":"PYCR1","name":"pyrroline-5-carboxylate reductase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22052856[PMID]","hgnc":"9721","ensembl":"ENSG00000183010","omim":"179035","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}