{"orpha":79350,"name":"3-phosphoserine phosphatase deficiency, infantile/juvenile form","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PSPH deficiency, infantile/juvenile form"],"definition":"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79350/","orphanet_url":"https://www.orpha.net/en/disease/detail/79350","names":{"fr":{"name":"Déficit en 3-phosphosérine phosphatase, forme infantile/juvénile","synonyms":["Déficit en PSPH, forme infantile/juvénile"],"definition":"Le déficit en 3-phosphoserine phosphatase est une forme extrêmement rare de la maladie neurométabolique par déficit en sérine , caractérisée dans le seul cas rapporté jusqu'à présent par une microcéphalie congénitale et un retard psychomoteur sévère associés au syndrome de Williams."},"de":{"name":"3-Phosphoserin-Phosphatase-Mangel, infantile/juvenile Form","synonyms":["PSPH-Defizienz, infantile/juvenile Form"],"definition":"Der 3-Phosphoserin-Phosphatase-Mangel ist eine extrem seltene Form des Serin-Mangelsyndroms (s. dort) und klinisch gekennzeichnet durch kongenitale Mikrozephalie und schwere psychomotorische Retardierung. Der einzige bisher beschriebene Fall war mit einem Williams-Syndrom (s. dort) assoziiert."},"es":{"name":"Deficiencia de 3-fosfoserina fosfatasa, forma infantil/juvenil","synonyms":["Deficiencia de PSPH, forma infantil/juvenil"],"definition":"El déficit de 3-fosfoserina fosfatasa es una forma extremadamente poco frecuente del síndrome de déficit de serina (consulte este término) que se caracteriza clínicamente por microcefalias congénitas y retraso psicomotor grave en el único caso registrado hasta la fecha, que estaba asociado con el síndrome de Williams (consulte este término)."},"it":{"name":"Deficit di 3-fosfoserina-fosfotasi","definition":"Il deficit di 3-fosfoserina fosfatasi è una forma molto rara della sindrome da deficit di serina (si veda questo termine) caratterizzata da microcefalia connatale e ritardo psicomotorio grave, nell'unico paziente noto, nel quale il difetto si associava alla sindrome di Williams (si veda questo termine)."},"nl":{"name":"Deficiëntie van 3-fosfoserinefosfatase, infantiele/juveniele vorm","synonyms":["PSPH-deficiëntie, infantiele/juveniele vorm"],"definition":"Een uiterst zeldzame vorm van deficiëntie van serine-syndroom, klinisch gekenmerkt door congenitale microcefalie en ernstige psychomotorische achterstand in het enige geval dat tot op heden werd gerapporteerd, dat geassocieerd was met syndroom van Williams."},"pt":{"name":"Deficiência de 3-fosfoserina fosfatase, forma da infância/juvenil"},"pl":{"name":"Niedobór fosfatazy 3-fosfoseryny","synonyms":["PSPH deficiency, infantile/juvenile form"]},"cs":{"name":"Deficit 3-fosfoserinfosfatázy","synonyms":["PSPH deficiency, infantile/juvenile form"]},"uk":{"name":"Дефіцит 3-фосфосеринфосфатази, інфантильна/ювенільна форма","synonyms":["Дефіцит PSPH, інфантильна/ювенільна форма"],"definition":"3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)."},"zh":{"name":"3-磷酸丝氨酸磷酸化酶缺陷症，婴儿/青少年型","synonyms":["PSPH缺乏症，婴儿/青少年型"]},"tr":{"name":"3-fosfoserin fosfataz eksikliği, infantil / jüvenil formu","synonyms":["PSPH eksikliği, infantil/jüvenil formu"]}},"xrefs":[{"source":"OMIM","code":"614023","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":"0013531","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291463","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"9222972[PMID]_14673469[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9222972[PMID]_14673469[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-28","source":"28653176[PMID]_19963421[PMID]_8739971[PMID]_16763900[PMID]_25080166[PMID]_9222972[PMID]","terms":[{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012279","label":"Hyposerinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}