{"orpha":52503,"name":"X-linked creatine transporter deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Creatine transporter deficiency","SLC6A8 deficiency"],"definition":"X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52503/","orphanet_url":"https://www.orpha.net/en/disease/detail/52503","names":{"fr":{"name":"Déficit en transporteur de la créatine lié à l'X","synonyms":["Déficit en SLC6A8","Déficit en transporteur de la créatine"],"definition":"Le déficit en transporteur de la créatine lié à l'X est un syndrome de déficience en créatine caractérisé sur le plan clinique par un retard de développement/déficience intellectuelle globaux (RD/DI) avec un retard proéminent de langage/de la parole, un comportement de type autistique et des convulsions."},"de":{"name":"Kreatin-Transporter-Mangel, X-chromosomaler","synonyms":["Kreatin-Transporter-Defekt","SLC6A8-Defizienz","SLC6A8-Mangel"],"definition":"Der X-chromosomale Kreatin-Transporter-Mangel (CRTR-D) ist ein Kreatinmangel-Syndrom, das klinisch durch globale Entwicklungsverzögerung/Intelligenzminderung (DD/ID) mit ausgeprägter Sprach-/Sprachverzögerung, autistischem Verhalten und Anfällen gekennzeichnet ist."},"es":{"name":"Deficiencia del transportador de creatina ligada al cromosoma X","synonyms":["Deficiencia de SLC6A8","Deficiencia del transportador de creatina"],"definition":"La deficiencia del transportador de creatina ligada al X (D-CRTR) es un síndrome de deficiencia de creatina caracterizado clínicamente por un retraso generalizado del desarrollo/discapacidad intelectual (RD/DI) junto a un importante retraso del habla/lenguaje, conducta autista y convulsiones."},"it":{"name":"Deficit del trasportatore della creatina legato all'X","synonyms":["Deficit del trasportatore della creatina","Deficit di SLC6A8"],"definition":"Il deficit del trasportatore della creatina legato all'X (CRTR-D) è una sindrome rara da deficit di creatina, caratterizzata da ritardo dello sviluppo globale/disabilità cognitiva (DD/ID), marcato ritardo del linguaggio, comportamenti autistici e crisi epilettiche."},"nl":{"name":"X-gebonden creatinetransporterdeficiëntie","synonyms":["Creatinetransporterdeficiëntie","SLC6A8-deficiëntie"],"definition":"X-gebonden creatinetransporterdeficiëntie (CRTR-D) is een creatinedeficiëntiesyndroom dat klinisch gekarakteriseerd wordt door een algemene ontwikkelingsachterstand/intellectuele invaliditeit met uitgesproken spraak- en taalachterstand, autistisch gedrag en insulten."},"pt":{"name":"Deficiência de transportador da creatina ligada ao X","synonyms":["Deficiência de transportador da creatina"]},"pl":{"name":"Niedobór transportera kreatyny sprzężony z płcią","synonyms":["Niedobór transportera kreatyny","SLC6A8 deficiency"]},"cs":{"name":"X-vázaný deficit transportéru kreatinu","synonyms":["Deficit transportéru kreatinu","Deficit SLC6A8"]},"uk":{"name":"Х-зчеплений дефіцит транспортера креатину","synonyms":["Дефіцит транспортера креатину","Дефіцит SLC6A8"],"definition":"X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures."},"zh":{"name":"X-连锁肌酸转运蛋白缺乏","synonyms":["肌酸转运载体缺乏"]},"tr":{"name":"X'e bağlı kreatin taşıyıcı eksikliği","synonyms":["SLC6A8 eksikliği","Kreatin taşıyıcı eksikliği"]}},"xrefs":[{"source":"OMIM","code":"300352","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1208619155"},{"source":"MONDO","code":"10305","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1608","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79172,"name":"Creatine deficiency syndrome","classifications":[150,156,181]},{"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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC6A8","name":"solute carrier family 6 member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301745[PMID]","hgnc":"11055","ensembl":"ENSG00000130821","omim":"300036","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"23644449[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23644449[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"2030174[PMID]","terms":[{"hpo":"HP:0012113","label":"Abnormality of creatine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002595","label":"Ileus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Occasional (29-5%)","criteria":null}]}}