{"orpha":583595,"name":"Serine biosynthesis pathway deficiency, infantile/juvenile form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-583595/","orphanet_url":"https://www.orpha.net/en/disease/detail/583595","names":{"fr":{"name":"Déficit de la voie de biosynthèse de la sérine, forme infantile/juvénile","definition":"Erreur innée du métabolisme rare associant déficit en 3-phosphoglycérate déshydrogénase, déficit en 3-phosphosérine phosphatase et déficit en phosphosérine aminotransférase, caractérisée par un spectre phénotypique oscillant entre les formes infantiles avec une microcéphalie congénitale, un retard psychomoteur et des crises convulsives réfractaires, et les formes juvéniles, moins sévères, avec un retard de développement modéré et une déficience intellectuelle."},"de":{"name":"Serinbiosynthese-Signalweg-Defizienz, infantile/juvenile Form","definition":"Eine seltene angeborene Stoffwechselstörung, die einen 3-Phosphoglycerat-Dehydrogenase-Mangel, einen 3-Phosphoserin-Phosphatase-Mangel und einen Phosphoserin-Aminotransferase-Mangel umfasst und durch ein phänotypisches Spektrum gekennzeichnet ist, das von kongenitaler Mikrozephalie, psychomotorischer Retardierung und hartnäckigen Krampfanfällen bei den kindlichen Formen bis hin zu milderen juvenilen Formen mit mäßiger Entwicklungsverzögerung und Intelligenzminderung reicht."},"es":{"name":"Deficiencia de la vía de biosíntesis de serina, forma infantil/juvenil","definition":"Es un error congénito del metabolismo poco frecuente que comprende la deficiencia de 3-fosfoglicerato deshidrogenasa, la deficiencia de 3-fosfoserina fosfatasa y la deficiencia de fosfoserina aminotransferasa. Está caracterizado por un espectro fenotípico que va desde microcefalia congénita, retraso psicomotor y crisis intratables en las formas infantiles hasta formas juveniles más leves con retraso moderado del desarrollo y discapacidad intelectual."},"it":{"name":"Deficit della via di biosintesi della serina, forma infantile/giovanile"},"nl":{"name":"Deficiëntie van reactiepad voor biosynthese van serine, infantiele/juveniele vorm","definition":"Een zeldzaam aangeboren defect van stofwisseling met deficiëntie van 3-fosfoglyceraat-dehydrogenase, 3-fosfoserine-fosfatase en fosfoserine-aminotransferase, gekenmerkt door een fenotypisch spectrum gaande van congenitale microcefalie, psychomotorische retardatie, en refractaire insulten bij de infantiele vormen tot matige ontwikkelingsachterstand en intellectuele achterstand bij de mildere juveniele vormen."},"pt":{"name":"Deficiência da via de biossíntese da serina, forma infantil/juvenil","definition":"Erro inato raro do metabolismo que compreende a deficiência de 3-fosfoglicerato desidrogenase, a deficiência de 3-fosfosserina fosfatase e a deficiência de fosfosserina aminotransferase e caracterizado por um espectro fenotípico que varia de microcefalia congénita, atraso do desenvolvimento e convulsões intratáveis nas formas infantis até formas juvenis mais leves com atraso do desenvolvimento moderado e perturbação do desenvolvimento intelectual."},"pl":{"name":"Niedobór szlaku biosyntezy seryny, postać niemowlęca/młodzieńcza"},"cs":{"name":"Deficit biosyntézy serinu, infantilní/juvenilní forma"},"uk":{"name":"Дефіцит шляху біосинтезу серину, інфантильна/ювенільна форма","definition":"A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability."},"zh":{"name":"丝氨酸生物合成途径缺乏，婴儿/青少年型"},"tr":{"name":"Serin biyosentez yolu eksikliği, infantil/jüvenil formu"}},"xrefs":[{"source":"OMIM","code":"601815","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610992","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614023","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681678","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35705,"name":"Neurometabolic disorder due to serine deficiency","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":79351,"name":"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","type":"Etiological subtype"},{"orpha":79350,"name":"3-phosphoserine phosphatase deficiency, infantile/juvenile form","type":"Etiological subtype"},{"orpha":284417,"name":"Phosphoserine aminotransferase deficiency, infantile/juvenile form","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PHGDH","name":"phosphoglycerate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11055895[PMID]","hgnc":"8923","ensembl":"ENSG00000092621","omim":"606879","loci":["1p12"],"via":{"orpha":79351,"name":"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"}},{"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"],"via":{"orpha":284417,"name":"Phosphoserine aminotransferase deficiency, infantile/juvenile form"}},{"symbol":"PSPH","name":"phosphoserine phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14673469[PMID]","hgnc":"9577","ensembl":"ENSG00000146733","omim":"172480","loci":["7p11.2"],"via":{"orpha":79350,"name":"3-phosphoserine phosphatase deficiency, infantile/juvenile form"}}],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8758134[PMID]_26960553[PMID]_28135894[PMID]_36308023[PMID]_26610677[PMID]_17436247[PMID]_29269105[PMID]_34089226[PMID]_26610677[PMID]_9222972[PMID]_25080166[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"8758134[PMID]_26960553[PMID]_28135894[PMID]_36308023[PMID]_26610677[PMID]_17436247[PMID]_29269105[PMID]_34089226[PMID]_26610677[PMID]_9222972[PMID]_25080166[PMID]"}],"phenotypes":null}