{"orpha":284417,"name":"Phosphoserine aminotransferase deficiency, infantile/juvenile form","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSAT deficiency, infantile/juvenile form"],"definition":"A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284417/","orphanet_url":"https://www.orpha.net/en/disease/detail/284417","names":{"fr":{"name":"Déficit en phosphosérine aminotransférase, forme infantile/juvénile","synonyms":["Déficit en PSAT, forme infantile/juvénile"],"definition":"Forme rare de la maladie neurométabolique par déficit en sérine, caractérisée sur le plan clinique par une microcéphalie postnatale, un retard psychomoteur, des convulsions réfractaires et une hypertonie."},"de":{"name":"Phosphoserin-Aminotransferase-Mangel, infantile/juvenile Form","synonyms":["PSAT-Defizienz, infantile/juvenile Form","PSAT-Mangel"],"definition":"Der Phosphoserin-Aminotransferase-Mangel ist eine extrem seltene Form des Serin-Mangelsyndroms (s. dort). Die beiden beschriebenen Fälle sind bisher klinisch gekennzeichnet durch Mikrozephalie, psychomotorische Retardierung, therapieresistente Krämpfe und Muskelhypertonie"},"es":{"name":"Deficiencia de fosfoserina aminotransferasa, forma infantil/juvenil","synonyms":["Deficiencia de PSAT, forma infantil/juvenil"],"definition":"El déficit de fosfoserina aminotransferasa es una forma extremadamente poco frecuente del síndrome de déficit de serina (consulte este término) que se caracteriza clínicamente en los dos casos registrados hasta la fecha por microcefalia adquirida, retraso psicomotor, convulsiones intratables e hipertonía."},"it":{"name":"Deficit di fosfoserina aminotransferasi","synonyms":["Deficit di PSAT"],"definition":"Il deficit di fosfoserina aminotransferasi è una forma molto rara della sindrome da deficit di serina (si veda questo termine) caratterizzata, nei due casi finora descritti, da microcefalia acquisita, ritardo psicomotorio, convulsioni intrattabili e ipertonia."},"nl":{"name":"Deficiëntie van fosfoserine-aminotransferase, infantiele/juveniele vorm","synonyms":["PSAT-deficiëntie, infantiele/juveniele vorm"],"definition":"Een uiterst zeldzame vorm van serinedeficiëntie-syndroom, klinisch gekenmerkt, bij de twee gevallen die tot op heden werden gerapporteerd, door verworven microcefalie, psychomotorische achterstand, refractaire insulten, en hypertonie."},"pt":{"name":"Deficiência de aminotransferase fosfoserina, forma da infância/juvenil"},"pl":{"name":"Niedobór aminotransferazy fosfoseryny","synonyms":["Niedobór PSAT"]},"cs":{"name":"Deficit fosfoserinaminotransferázy","synonyms":["Deficit PSAT"]},"uk":{"name":"Дефіцит фосфосеринамінотрансферази, інфантильна/ювенільна форма","synonyms":["Дефіцит PSAT, інфантильна/ювенільна форма"],"definition":"A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."},"zh":{"name":"婴幼儿/青少年型磷酸丝氨酸转氨酶缺乏症","synonyms":["婴幼儿/青年型PSAT缺乏症"],"definition":"磷酸丝氨酸氨基转移酶缺乏症是一种极为罕见的丝氨酸缺乏综合征（见本术语），临床已报道的2例病人表现为获得性小头畸形、精神运动发育迟缓、顽固性惊厥和肌张力增高。"},"tr":{"name":"Fosfoserin aminotransferaz eksikliği, infantil / jüvenil formu","synonyms":["PSAT eksikliği, infantil / jüvenil formu"]}},"xrefs":[{"source":"OMIM","code":"610992","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C1970253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13273","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":583595,"name":"Serine biosynthesis pathway deficiency, infantile/juvenile form","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PSAT1","name":"phosphoserine aminotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17436247[PMID]","hgnc":"19129","ensembl":"ENSG00000135069","omim":"610936","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-04","source":"30122079[PMID]_23463425[PMID]_26960553[PMID]_29269105[PMID]_17436247[PMID]","terms":[{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012279","label":"Hyposerinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200048","label":"Cyanotic episode","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011196","label":"EEG with focal sharp waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007704","label":"Paroxysmal involuntary eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009879","label":"Simplified gyral pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}