{"orpha":79351,"name":"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PHGDH deficiency, infantile/juvenile form"],"definition":"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79351/","orphanet_url":"https://www.orpha.net/en/disease/detail/79351","names":{"fr":{"name":"Déficit en 3-phosphoglycerate déshydrogénase, forme infantile/juvénile","synonyms":["Déficit en PHGDH, forme infantile/juvénile"],"definition":"Le déficit en 3-phosphoglycérate déshydrogénase (3-PGDH), forme infantile/juvénile est une forme autosomique récessive de la maladie neurométabolique par déficit en sérine , caractérisée dans les quelques cas rapportés par une microcéphalie congénitale, un retard psychomoteur et des convulsions réfractaires dans la forme infantile, et par l'absence de convulsions, un retard modéré du développement et des troubles du comportement dans la forme juvénile."},"de":{"name":"3-Phosphoglycerat-Dehydrogenase-Mangel, infantile/juvenile Form","synonyms":["PHGDH-Defizienz, infantile/juvenile Form"],"definition":"Der 3-Phosphoglycerat-Dehydrogenase-Mangel (3-PGDH-Mangel) ist eine autosomal-rezessiv vererbte Form des Serin-Mangelsyndroms (s. dort). Die wenigen publizierten Fälle waren klinisch gekennzeichnet durch kongenitale Mikrozephalie, psychomotorische Retardierung und therapieresistente Krämpfe in der infantilen Form und durch Absencen, moderate Entwicklungsverzögerung und Verhaltensstörungen in der juvenilen Form."},"es":{"name":"Deficiencia de 3-fosfoglicerato deshidrogenasa forma infantil/juvenil","synonyms":["Deficiencia de PHGDH, forma infantil/juvenil"],"definition":"El déficit de 3-fosfoglicerato deshidrogenasa (déficit 3-PGDH) es una forma autosómica recesiva del síndrome de déficit de serina (consulte este término) que se caracteriza clínicamente en los pocos casos registrados por microcefalia congénita, retraso psicomotor y convulsiones intratables en la forma infantil y por ausencia de convulsiones, retraso del desarrollo moderado y trastornos de la conducta en la forma juvenil."},"it":{"name":"Deficit di 3-fosfoglicerato deidrogenasi, forma infantile/giovanile","definition":"Il deficit di 3-fosfoglicerato deidrogenasi (deficit di 3-PGDGH) è una forma autosomica recessiva della sindrome da deficit di serina (si veda questo termine). I pochi pazienti descritti presentavano microcefalia connatale, ritardo psicomotorio e convulsioni intrattabili, nella forma infantile, e assenza di convulsioni, moderato ritardo dello sviluppo e disturbi comportamentali, nella forma giovanile."},"nl":{"name":"Deficiëntie van 3-fosfoglyceraatdehydrogenase, infantiele/juveniele vorm","synonyms":["PHGDH-deficiëntie, infantiele/juveniele vorm"],"definition":"Een autosomaal recessieve vorm van deficiëntie van serine-syndroom, in de enkele gevallen die werden gerapporteerd klinisch gekenmerkt door congenitale microcefalie, psychomotorische achterstand, en onbehandelbare insulten in de infantiele vorm, en door absences, matige ontwikkelingsachterstand, en gedragsstoornissen in de juveniele vorm."},"pt":{"name":"Deficiência de 3-fosfoglicerato desidrogenase, forma da infância/juvenil"},"pl":{"name":"Niedobór dehydrogenazy 3-fosfogliceryny, postać dziecięca/młodzieńcza","synonyms":["PHGDH deficiency, infantile/juvenile form"]},"cs":{"name":"Deficit 3-fosfoglycerát dehydrogenázy, infantilní/juvenilní forma","synonyms":["PHGDH deficiency, infantile/juvenile form"]},"uk":{"name":"Дефіцит 3-фосфогліцератдегідрогенази, інфантильна/ювенільна форма","synonyms":["Дефіцит PHGDH, інфантильна/ювенільна форма"],"definition":"3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form"},"zh":{"name":"3-磷酸甘油酸脱氢酶缺陷症，婴儿/青少年型","synonyms":["PHGDH缺乏症，婴儿/青少年型"]},"tr":{"name":"3-fosfogliserat dehidrojenaz eksikliği, infantil / jüvenil formu","synonyms":["PHGDH eksikliği, infantil/jüvenil formu"]}},"xrefs":[{"source":"OMIM","code":"601815","qualifier":"E","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,"icd11_uri":"null"},{"source":"MONDO","code":"0011152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680205","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":422519,"name":"OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency","status":"inactive"}],"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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"23564319[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23564319[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-29","source":"23463425[PMID]_19963421[PMID]_29269105[PMID]_8758134[PMID]","terms":[{"hpo":"HP:0012277","label":"Hypoglycinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012279","label":"Hyposerinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","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:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010821","label":"Focal emotional seizure with laughing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007503","label":"Generalized ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}