{"orpha":250977,"name":"AICA-ribosiduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["5-amino-4-imidazole carboxamide ribosiduria","AICA-ribosiduria due to ATIC deficiency","AICAR transformylase/IMP cyclohydrolase deficiency","ATIC deficiency"],"definition":"A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250977/","orphanet_url":"https://www.orpha.net/en/disease/detail/250977","names":{"fr":{"name":"AICA-ribosidurie","synonyms":["5-amino-4-imidazole carboxamide ribosidurie","AICA-ribosidurie par déficit en ATIC","Déficit en AICAR transformylase / IMP cyclohydrolase","Déficit en ATIC"],"definition":"Maladie métabolique congénitale sévère d'origine génétique, caractérisée par l'association d'un trouble du neurodéveloppement sévère à profond, d'une atteinte visuelle sévère, d'un retard de croissance anté- et postnatal, d'une scoliose sévère, et souvent d'une épilepsie précoce."},"de":{"name":"AICA-Ribosidurie","synonyms":["5-Amino-4-Imidazolcarboxamid-Ribosidurie","AICA-Ribosidurie durch ATIC-Mangel","AICAR-Transformylase und IMP-Zyklohydrolase-Mangel","ATIC-Defizienz","ATIC-Mangel"],"definition":"Eine seltene und schwerwiegende angeborene Stoffwechselerkrankung, die klinisch durch die Assoziation von schweren bis schwerwiegenden neurologischen Entwicklungsstörungen, schweren Sehstörungen, ante-postnatalen Wachstumsstörungen, schwerer Skoliose und häufig auch früh einsetzender Epilepsie gekennzeichnet ist."},"es":{"name":"AICA ribosiduria","synonyms":["5-amino-4-imidazolcarboxamida ribosiduria","AICA ribosiduria por deficiencia de ATIC","Deficiencia de AICAR transformilasa/IMP ciclohidrolasa","Deficiencia de ATIC"],"definition":"Es una enfermedad metabólica congénita grave y poco frecuente caracterizada clínicamente por un retraso del neurodesarrollo de grave a profundo, disfunción visual grave, retraso del crecimiento pre- y post-natal, escoliosis marcada, y, con frecuencia, epilepsia de inicio temprano."},"it":{"name":"AICA-ribosiduria","synonyms":["5-amino-4-imidazol-carbossamide ribosiduria","Deficit di ATIC"],"definition":"L'AICA-ribosiduria è un difetto congenito grave e raro del metabolismo, caratterizzato da deficit marcato dello sviluppo neurologico, compromissione grave della vista, ritardo della crescita pre- e postnatale, grave scoliosi e, spesso, epilessia ad esordio precoce."},"nl":{"name":"AICA-ribosidurie","synonyms":["5-amino-4-imidazolcarboxamideribosidurie","AICA-ribosidurie door ATIC-deficiëntie","ATIC-deficiëntie","Deficiëntie van AICAR-transformylase/IMP-cyclohydrolase"],"definition":"Een zeldzame en ernstige aangeboren stoornis van metabolisme, klinisch gekarakteriseerd door de associatie van ernstige tot zeer ernstige neurologische ontwikkelingsstoornis, ernstig verlies van gezichtsvermogen, pre- en postnatale groeistoornis, ernstige scoliose en vaak vroeg aanvangende epilepsie."},"pt":{"name":"Ribosiduria-AICA","synonyms":["Deficiência de ATIC","Ribosiduria 5-amino-4-imidazolecarboxamida"]},"pl":{"name":"AICA-ribosiduria","synonyms":["5-amino-4-imidazole carboxamide ribosiduria","Niedobór ATIC"]},"cs":{"name":"AICA-ribosidurie","synonyms":["5-amino-4-imidazol karboxiamidová ribosidurie","Decifit ATIC"]},"uk":{"name":"AICA-рибозидурія","synonyms":["5-аміно-4-імідазол-карбоксамідна рибозидурія","Дефіцит трансферилази AICAR/циклогідролази IMP","AICA-рибозидурія внаслідок дефіциту ATIC","Дефіцит ATIC"],"definition":"A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy."},"zh":{"name":"4-氨基咪唑-5-羧酰胺核糖尿","synonyms":["4-氨基咪唑-5-羧酰胺核糖尿"],"definition":"一种极其严重的先天性嘌呤生物合成错误，在一例报道的病例中，临床表现为严重的智力缺陷、癫痫、膝肘肩畸形以及先天性失明。"},"tr":{"name":"AICA-ribosidüri","synonyms":["ATIC eksikliği","5-amino-4-imidazol karboksamid ribosidüri"]}},"xrefs":[{"source":"OMIM","code":"608688","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":"index","validated":true,"icd11_uri":"536386745"},{"source":"MONDO","code":"0012099","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563876","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837530","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATIC","name":"5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15114530[PMID]","hgnc":"794","ensembl":"ENSG00000138363","omim":"601731","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"15114530[PMID]_32557644[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15114530[PMID]_32557644[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-26","source":"15114530[PMID]","terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007875","label":"Congenital blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000063","label":"Fused labia minora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null}]}}