{"orpha":382,"name":"Guanidinoacetate methyltransferase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GAMT deficiency"],"definition":"Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-382/","orphanet_url":"https://www.orpha.net/en/disease/detail/382","names":{"fr":{"name":"Déficit en guanidinoacétate méthyltransférase","synonyms":["Déficit en GAMT"],"definition":"Le déficit en guanidinoacétate méthyltransférase (GAMT) est un syndrome de déficit en créatine caractérisé par un retard global du développement/déficit intellectuel (RD/DI), un retard de langage proéminent, des troubles du comportement de type autistique/hyperactif, des convulsions et une variété de manifestations pyramidales et/ou extrapyramidales."},"de":{"name":"Guanidinoacetat-Methyltransferase-Mangel","synonyms":["GAMT-Mangel"]},"es":{"name":"Deficiencia de guanidinoacetato metiltransferasa","synonyms":["Deficiencia GAMT"],"definition":"La deficiencia de guanidinoacetato metiltransferasa (GAMT) es un síndrome de deficiencia de creatina caracterizado por un retraso generalizado del desarrollo/discapacidad intelectual (RD/DI), retraso notable del habla, trastorno de conducta tipo autista/hiperactivo, convulsiones y varios tipos de manifestaciones piramidales y/o extrapiramidales."},"it":{"name":"Deficit di guanidinoacetato metiltransferasi","synonyms":["Deficit di GAMT"],"definition":"Il deficit di guanidinoacetato metiltransferasi (GAMT) è una sindrome da deficit di creatina. E' caratterizzata da ritardo dello sviluppo globale/disabilità cognitiva (DD/ID), marcato ritardo dell'acquisizione del linguaggio, disturbi del comportamento di natura autistica e iperattività, crisi epilettiche e segni piramidali ed extrapiramidali."},"nl":{"name":"Guanidinoacetaat-methyltransferasedeficiëntie","synonyms":["GAMT-deficiëntie"],"definition":"Guanidinoacetaat-methyltransferase (GAMT)-deficiëntie is een creatinedeficiëntiesyndroom dat gekarakteriseerd wordt door een algemene ontwikkelingsachterstand/intellectuele invaliditeit, uitgesproken spraakachterstand, autistische/hyperactieve gedragsstoornissen, insulten, en verscheidene types van piramidale en/of extrapiramidale manifestaties."},"pt":{"name":"Deficiência de guanidinoacetato metiltransferase","synonyms":["Deficiência cerebral de creatina","Deficiência de GAMT"],"definition":"A deficiência de guanidinoacetato metiltransferase (GAMT) é uma síndrome de deficiência de creatina caracterizada por um atraso global no desenvolvimento/perturbação do desenvolvimento intelectual (DD/PDI), atraso significativo na fala, perturbações comportamentais do espectro autista/hiperativas, convulsões e vários tipos de manifestações piramidais e/ou extrapiramidais."},"pl":{"name":"Deficyt metylotransferazy kwasu guanidynooctowego","synonyms":["Niedobór GAMT"]},"cs":{"name":"Deficit guanidinoacetát methyltransferázy","synonyms":["GAMT deficit"]},"uk":{"name":"Дефіцит гуанідиноацетатметилтрансферази","synonyms":["Дефіцит GAMT"],"definition":"Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations."},"zh":{"name":"乙酸胍转甲基酶缺乏症","synonyms":["乙酸胍转甲基酶缺乏症"]},"tr":{"name":"Guanidinoasetat metiltransferaz eksikliği","synonyms":["GAMT eksikliği"]}},"xrefs":[{"source":"OMIM","code":"612736","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1811642217"},{"source":"MONDO","code":"0012999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537622","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2578","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":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GAMT","name":"guanidinoacetate N-methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301745[PMID]","hgnc":"4136","ensembl":"ENSG00000130005","omim":"601240","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"20301745[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-13","source":"78088440[PMID]_8651275[PMID]_9386672[PMID]_15651030[PMID]_20301745[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null}]}}