{"orpha":2209,"name":"Maternal phenylketonuria syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperphenylalaninemic embryopathy","Maternal PKU syndrome","Maternal hyperphenylalaninemia","Phenylketonuric embryopathy"],"definition":"A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2209/","orphanet_url":"https://www.orpha.net/en/disease/detail/2209","names":{"fr":{"name":"Syndrome de phénylcétonurie maternelle","synonyms":["Embryopathie hyperphénylalaninémique","Embryopathie phénylcétonurique","Hyperphénylalaninémie maternelle","Syndrome de PCU maternelle"],"definition":"Trouble rare du métabolisme de la phénylalanine (Phé)/erreur innée du métabolisme des acides aminés caractérisé(e) par le développement d'une microcéphalie, un retard de croissance, une cardiopathie congénitale, une dysmorphie faciale et une déficience intellectuelle chez les enfants non phénylcétonuriques de mères présentant des concentrations excessives de Phé dans le sang."},"de":{"name":"Phenylketonurie, maternale","synonyms":["Embryopathie, phenylketonurische","Hyperphenylalanin-Embryopathie","Hyperphenylalaninämie, maternale","PKU, maternale","Phenylalanin-Embryopathie"],"definition":"Eine seltene Störung des Phenylalanin-Stoffwechsels, der als angeborener Fehler des Aminosäurestoffwechsels gekennzeichnet ist durch die Entwicklung von Mikrozephalie, Wachstumsretardierung, angeborener Herzerkrankung, Gesichtsdysmorphie und Intelligenzminderung bei nicht-phenylketonurischen Nachkommen von Müttern mit überschüssigen Phenylalanin (Phe)-Konzentrationen."},"es":{"name":"Síndrome de fenilcetonuria materna","synonyms":["Embriopatía fenilcetonúrica","Embriopatía hiperfenilalaninémica","Hiperfenilalaninemia materna"],"definition":"Es un trastorno poco frecuente del metabolismo de la fenilalanina (Phe), un error congénito del metabolismo de los aminoácidos caracterizado por microcefalia, retraso del crecimiento, cardiopatía congénita, dismorfia facial y discapacidad intelectual en descendientes no fenilcetonúricos de mujeres con concentraciones muy elevadas de Phe en sangre."},"it":{"name":"Sindrome fenilchetonuria materna","synonyms":["Sindrome PKU materna","Embriopatia da iperfenilalaninemia","Embriopatia fenilchetonurica","Iperfenilalaninemia materna","PKU materna"],"definition":"La fenilchetonuria (PKU) materna è una malattia rara del metabolismo della fenilalanina (Phe) ed un errore congenito del metabolismo degli aminoacidi, caratterizzato da microcefalia, ritardo della crescita, cardiopatia congenita, dismorfismi facciali e disabilità intellettiva nei figli non fenilchetonurici di madri con concentrazioni eccessive di Phe nel sangue."},"nl":{"name":"Maternale fenylketonurie-syndroom","synonyms":["Fenylketonurische embryopathie","Hyperfenylalaninemische embryopathie","Maternale PKU-syndroom","Maternale hyperfenylalaninemie"],"definition":"Een zeldzame stoornis van het metabolisme van fenylalanine (Phe), een aangeboren defect van het aminozuurmetabolisme, gekarakteriseerd door de ontwikkeling van microcefalie, groeiretardatie, congenitale hartziekte, faciale dysmorfie en intellectuele achterstand bij nakomelingen zonder fenylketonurie van moeders met overmatige Phe-concentraties in het bloed."},"pt":{"name":"Fenilcetonúria materna","synonyms":["Embriopatia fenilcetonúrica","Embriopatia hiperfenilalaninémica","Hiperfenilalaninemia materna"],"definition":"Anomalia rara do metabolismo da fenilalanina (Phe), um erro inato do metabolismo dos aminoácidos, caracterizado pelo desenvolvimento de microcefalia, atraso no crescimento, doença cardíaca congénita, dismorfismo facial e perturbação do desenvolvimento intelectual em filhos não fenilcetonúricos de mães com concentrações excessivas de Phe no sangue."},"pl":{"name":"Fenyloketonuria matczyna","synonyms":["Embriopatia fenyloketonowa","Embriopatia hiperfenyloalaninowa","Hiperfenyloalaninemia matczyna","PKU matczyna"]},"cs":{"name":"Maternální fenylketonurie","synonyms":["Hyperfenylalaninemická embryopatie","Maternální PKU","Maternální hyperfenylalaninemie","Fenylketonurická embryopatie"]},"uk":{"name":"Материнська фенілкетонурія","synonyms":["Гіперфенілаланінемічна ембріопатія","Материнська гіперфенілаланінемія","Материнська ПКУ","Фенілкетонурична ембріопатія"],"definition":"A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations."},"zh":{"name":"母体苯丙酮尿症","synonyms":["高苯丙酮尿酸血症型胚胎病"]},"tr":{"name":"Maternal fenilketonüri","synonyms":["Maternal PKU","Fenilketonürik embriyopati","Maternal hiperfenilalaninemi","Hiperfenilalaninemik embriyopati"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1509230254"},{"source":"MONDO","code":"0016366","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085547","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":251535,"name":"Maternal disease-related embryofetopathy","classifications":[147,216]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":708881,"name":"Phenylalanine hydroxylase deficiency","classifications":[150,156,181]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"PAH","name":"phenylalanine hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1915502[PMID]","hgnc":"8582","ensembl":"ENSG00000171759","omim":"612349","loci":["12q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-29","source":"22205310[PMID]_14654657[PMID]_30244725[PMID]_11328945[PMID]_10636975[PMID]_9066890[PMID]_8648535[PMID]_1481837[PMID]_1915502[PMID]_5391176[PMID]_4968669[PMID]_23784316[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009611","label":"Bifid distal phalanx of the thumb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004411","label":"Deviated nasal septum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null}]}}