{"orpha":633099,"name":"PAICS deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Phosphoribosylaminoimidazole carboxylase deficiency"],"definition":"A rare disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include, esophageal atresia with or without treacheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-633099/","orphanet_url":"https://www.orpha.net/en/disease/detail/633099","names":{"fr":{"name":"Déficience en PAICS","synonyms":["Déficience en phosphoribosylaminoimidazole carboxylase"],"definition":"Trouble rare du métabolisme de la purine caractérisé par de multiples anomalies congénitales et une dysmorphie craniofaciale, en particulier de la partie médiane du visage, à type de visage plat, d'oreilles d'implantation basse, d'hypoplasie du nez, de pont nasal déprimé, d'atrésie/sténose des choanes et d'hypertélorisme. Les autres malformations comprennent une atrésie de l'oesophage avec ou sans fistule trichéo-oesophagienne, ainsi que des malformations des côtes, des poumons, des vertèbres, des jambes, des orteils et des doigts."},"de":{"name":"Phosphoribosylaminoimidazol-Carboxylase-Mangel","synonyms":["PAICS-Defizienz","PAICS-Mangel"],"definition":"Eine seltene Störung des Purinstoffwechsels, die durch mehrere angeborene Anomalien/Dysmorphien gekennzeichnet ist, einschließlich kraniofazialer Dysmorphien, insbesondere des Mittelgesichts mit flachem Gesichtsprofil, tief angesetzten Ohren, Nasenhypoplasie, niedrigem Nasenrücken, Choanalatresie/-stenose und Hypertelorismus. Zu den weiteren Fehlbildungen gehören eine Atresie der Speiseröhre mit oder ohne treacheo-ösophageale Fistel sowie Fehlbildungen der Rippen, der Lunge, der Wirbel, der Beine, der Zehen und der Finger."},"es":{"name":"Deficiencia PAICS","synonyms":["Deficiencia de fosforribosil-aminoimidazol-carboxilasa"],"definition":"Es un trastorno poco frecuente del metabolismo de las purinas caracterizado por múltiples anomalías congénitas y rasgos dismórficos, incluyendo dismorfia craneofacial, especialmente del tercio medio facial con cara aplanada, orejas de implantación baja, hipoplasia nasal, puente nasal bajo, atresia/estenosis de coanas e hipertelorismo. Otras malformaciones incluyen atresia esofágica con o sin fístula traqueoesofágica, así como malformaciones en costillas, pulmones, vértebras, piernas, dedos de las manos y de los pies."},"it":{"name":"Deficit di PAICS","synonyms":["Deficit di fosforibosil-aminoimidazolo carbossilasi"]},"nl":{"name":"PAICS-deficiëntie","synonyms":["Deficiëntie van fosforibosylaminoimidazool-carboxylase"],"definition":"Een zeldzame aandoening van purinemetabolisme, gekenmerkt door multipele congenitale anomalieën/dysmorfe kenmerken, waaronder craniofaciale dysmorfie, vooral van het middengezicht met plat aangezicht, laagstaande oren, nasale hypoplasie, lage neusbrug, choanale atresie/stenose, en hypertelorisme. Overige malformaties zijn onder meer atresie van oesofagus met of zonder tracheo-oesofageale fistel, alsook malformaties van ribben, longen, wervels, benen, tenen en vingers."},"pt":{"name":"Deficiência PAICS","synonyms":["Deficiência de fosforribosil aminoimidazole carboxilase"]},"pl":{"name":"Niedobór PAICS","synonyms":["Phosphoribosylaminoimidazole carboxylase deficiency"],"definition":"Rzadkie zaburzenie metabolizmu puryn, charakteryzujące się licznymi wadami wrodzonymi oraz cechami dysmorficznymi, w tym twarzoczaszki, szczególnie w obrębie środkowej części twarzy, które obejmują płaską twarz, nisko osadzone uszy, hipoplazję nosa, niską nasadę nosa, zarośnięcie lub zwężenie nozdrzy tylnych oraz hiperteloryzm.inf brsup Inne wady rozwojowe to zarośnięcie przełyku z lub bez przetoki tchawiczo-przełykowej, a także wady żeber, płuc, kręgów, kończyn dolnych oraz palców dłoni i stóp.inf brsup"},"cs":{"name":"Deficit PAICS","synonyms":["Phosphoribosylaminoimidazole carboxylase deficiency"]},"uk":{"name":"Дефіцит PAICS","synonyms":["Дефіцит фосфорибозиламіноімідазолкарбоксилази"]}},"xrefs":[{"source":"OMIM","code":"619859","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0859003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291561","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"PAICS","name":"phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31600779[PMID]","hgnc":"8587","ensembl":null,"omim":null,"loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"39726239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39726239[PMID]_ORPHANET"}],"phenotypes":null}