{"orpha":35664,"name":"ALDH18A1-related De Barsy syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Neurocutaneous syndrome, Bicknell type","P5CS deficiency","Delta-1-pyrroline 5-carboxylate synthetase deficiency"],"definition":"A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35664/","orphanet_url":"https://www.orpha.net/en/disease/detail/35664","names":{"fr":{"name":"Syndrome de De Barsy associé à ALDH18A1","synonyms":["Déficit en P5CS","Déficit en delta-1-pyrroline 5-carboxylate synthétase","Syndrome neurocutané type Bicknell"],"definition":"Maladie génétique et neurométabolique rare caractérisée par un retard de croissance prénatal et postnatal, une hypotonie, un retard de croissance staturo-pondérale, une fontanelle large et à fermeture tardive, un retard de développement global, une cutis laxa, une laxité articulaire, une apparence progéroïde et des traits dysmorphiques. Les autres signes comprennent des opacités cornéennes, des cataractes, une myopie, des convulsions, une hyperréflexie et des mouvements athétoïdes."},"de":{"name":"DeBarsy-Syndrom, ALDH18A1-abhängiges","synonyms":["Delta-1-Pyrrolin-5-Carboxylat-Synthetase-Mangel","Neurokutanes Syndrom Typ Bicknell","P5CS-Mangel"],"definition":"Eine genetisch bedingte neurometabolische Krankheit, die durch pränatale und postnatale Wachstumsretardierung, Hypotonie, Gedeihstörung, große und sich spät schließende Fontanelle, Entwicklungsverzögerung, Cutis laxa, Gelenklaxität, progeroides Aussehen und dysmorphe Gesichtszüge gekennzeichnet ist. Darüber hinaus wurden auch Hornhauttrübungen, Katarakte, Myopie, Krampfanfälle, Hyperreflexie und athetoide Bewegungen beschrieben."},"es":{"name":"Síndrome de De Barsy asociado a ALDH18A1","synonyms":["Deficiencia de Delta-1-pirrolina 5-carboxilato sintetasa","Deficiencia de P5CS","Síndrome neurocutáneo tipo Bicknell"],"definition":"Es una enfermedad neurometabólica genética poco frecuente caracterizada por retraso del crecimiento pre- y posnatal, hipotonía, fallo de medro, fontanela agrandada con cierre tardío, retraso del desarrollo, cutis laxa, laxitud articular, apariencia progeroide y rasgos faciales dismórficos. Adicionalmente, esta enfermedad también se ha asociado a opacidades corneales, cataratas, miopía, crisis epilépticas, hiperreflexia y movimientos atetoides."},"it":{"name":"Sindrome di De Barsy correlata a ALDH18A1","synonyms":["Deficit di P5CS","Deficit di delta-1-pirrolina 5-carbossilato sintetasi","Sindrome neurocutanea, tipo Bicknell"],"definition":"È una malattia neurometabolica genetica rara, caratterizzata da ritardo della crescita pre- e post-natale, difficoltà nella crescita, ipotonia, fontanella ampia a chiusura tardiva, ritardo dello sviluppo, cutis laxa, lassità articolare, aspetto progeroide e dismorfismi facciali. Può associarsi ad opacità corneali, cataratta, miopia, crisi epilettiche, iperreflessia e movimenti atetosici."},"nl":{"name":"ALDH18A1-gerelateerd syndroom van De Barsy","synonyms":["Delta-1-pyrroline 5-carboxylaatsynthetasedeficiëntie","Neurocutaan syndroom, Bicknell-type","P5CS-deficiëntie"],"definition":"Een zeldzame, genetische, neurometabole ziekte die gekarakteriseerd wordt door pre- en postnatale groeiretardatie, hypotonie, groeiachterstand, groot en laat sluitend fontanel, ontwikkelingsachterstand, cutis laxa, gewrichtslaxiteit, progeroïd uiterlijk, en dysmorfe gelaatskenmerken. Daarnaast werden ook reeds hoornvliestroebelingen, cataracten, myopie, insulten, hyperreflexie en athetoïde bewegingen geassocieerd."},"pt":{"name":"Síndrome De Barsy ALDH18A1-relacionada","synonyms":["Deficiência de delta-1-pirrolina-5-carboxilato sintetase"]},"pl":{"name":"Zespół De Barsy'ego związany z ALDH18A1","synonyms":["Delta-1-pyrroline 5-carboxylate synthetase deficiency Niedobór syntetazy karboksylanu delta-1-piroliny","Niedobór P5CS","Zespół nerwowo-skórny, typ Bicknella"]},"cs":{"name":"ALDH18A1-vázaný De Barsyho syndrom","synonyms":["Deficit delta 1-pyrrolin-5-karboxylátsyntetázy","Deficit P5CS","Neurokutánní syndrom, Bicknellův typ"]},"uk":{"name":"Синдром де Барсі, повязаний з ALDH18A1","synonyms":["Дефіцит дельта-1-піролін-5-карбоксилатсинтетази","Нейрошкірний синдром, тип Бікнелла","Дефіцит P5CS"],"definition":"A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated."},"zh":{"name":"ALDH18A1相关De Barsy综合征","synonyms":["δ1-二氢吡咯5-羧酸合成酶缺乏症"]},"tr":{"name":"ALDH18A1--ilişkili De Barsy sendromu","synonyms":["P5CS eksikliği","Nörokutanöz sendrom, Bicknell tipi","Delta-1-pirrolin 5-karboksilat sentetaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"219150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"327253455"},{"source":"MONDO","code":"0009053","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5234852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2962,"name":"De Barsy syndrome","classifications":[147,150,156,181,182,186,187,189]}],"children":[],"genes":[{"symbol":"ALDH18A1","name":"aldehyde dehydrogenase 18 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21739576[PMID]","hgnc":"9722","ensembl":"ENSG00000059573","omim":"138250","loci":["10q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null}]}}