{"orpha":79172,"name":"Creatine deficiency syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CCDS","CDS","Cerebral creatine deficiency syndrome"],"definition":"Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79172/","orphanet_url":"https://www.orpha.net/en/disease/detail/79172","names":{"fr":{"name":"Syndrome de déficit en créatine","synonyms":["CDS"],"definition":"Groupe d'erreurs innées du métabolisme de la créatine, caractérisées par un retard global de développement, une déficience intellectuelle et des troubles neurologiques (crises convulsives, mouvements anormaux, myopathie) et des troubles comportementaux associés. Deux défauts de biosynthèse de la créatine : le déficit en guanidinoacétate méthyltransférase et le déficit en l-arginine:glycine amidinotransférase, ainsi qu'un déficit en transporteur de créatine lié à l'X font partie du syndrome."},"de":{"name":"Kreatin-Mangel-Syndrom","synonyms":["CCDS","CDS","Kreatin-Mangel-Syndrom, zerebrales"]},"es":{"name":"Síndrome de deficiencia de creatina","synonyms":["CCDS","CDS","Síndrome de deficiencia de creatina cerebral"],"definition":"El síndrome de deficiencia de creatina (SDC) constituye un grupo de errores innatos del metabolismo de la creatina, caracterizados por un retraso generalizado del desarrollo, y discapacidad intelectual, asociados a otras alteraciones neurológicas (convulsiones, trastornos del movimiento, miopatía) y/o trastornos conductuales. El SDC incluye dos trastornos de la biosíntesis de creatina: uno debido a la deficiencia de guanidinoacetato metiltransferasa y otro a la deficiencia de L-Arginina:glicina amidinotransferasa, así como un trastorno, ligado al X, debido a la deficiencia del transportador de creatina."},"it":{"name":"Sindrome della biosintesi della creatina","synonyms":["CDS","Sindrome da deficit cerebrale di creatina"],"definition":"La sindrome da deficit di creatina (CDS) comprende un gruppo di difetti congeniti del metabolismo della creatina, caratterizzati da ritardo dello sviluppo globale, disabilità cognitiva e segni comportamentali e neurologici (crisi epilettiche, anomalie del movimento, miopatia). Fanno parte della CDS due anomalie della biosintesi della creatina, il deficit di guanidinoacetato metiltransferasi e di L-arginina: glicina amidinotransferasi, e il deficit del trasportatore della creatina legato all'X."},"nl":{"name":"Creatinedeficiëntiesyndroom","synonyms":["CCDS","CDS","Cerebraal creatinedeficiëntiesyndroom"],"definition":"Creatinedeficiëntiesyndroom (CDS) omvat een groep aangeboren fouten in het creatinemetabolisme en wordt gekarakteriseerd door een algemene ontwikkelingsachterstand, intellectuele stoornissen, en geassocieerde neurologische symptomen (insulten, bewegingsstoornissen, myopathie) en gedragsmanifestaties. CDS omvat twee stoornissen van de creatinebiosynthese, guanidinoacetaat-methyltransferasedeficiëntie en L-arginine:glycine-amidinotransferasedeficiëntie, alsook X-gebonden creatinetransporterdeficiëntie."},"pt":{"name":"Síndrome de deficiência de creatina","synonyms":["Doença da biossíntese de creatina"]},"pl":{"name":"Zespół biosyntezy kreatyny","synonyms":["CDS","Zespół niedoboru kreatyny mózgowej"]},"cs":{"name":"Syndrom deficitu kreatinu","synonyms":["CDS","Syndrom nedostatku mozkového kreatinu"]},"uk":{"name":"Синдром дефіциту креатину","synonyms":["CCDS","CDS","Синдром церебральної креатинової недостатності"],"definition":"Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency."},"zh":{"name":"肌酸缺乏综合征","synonyms":["脑肌酸缺乏综合征"]},"tr":{"name":"Kreatin eksikliği sendromu","synonyms":["CDS","CCDS","Serebral kreatin eksikliği sendromu"]}},"xrefs":[{"source":"MONDO","code":"0000456","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5244016","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084104","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79200,"name":"Disorder of energy metabolism","classifications":[150,156]},{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","classifications":[156,181]}],"children":[{"orpha":382,"name":"Guanidinoacetate methyltransferase deficiency","type":"Disease"},{"orpha":35704,"name":"L-Arginine:glycine amidinotransferase deficiency","type":"Disease"},{"orpha":52503,"name":"X-linked creatine transporter deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}