{"orpha":199337,"name":"Pancreatic insufficiency-anemia-hyperostosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199337/","orphanet_url":"https://www.orpha.net/en/disease/detail/199337","names":{"fr":{"name":"Syndrome d'insuffisance pancréatique-anémie-hyperostose","synonyms":["Syndrome de Shteyer"],"definition":"Ce syndrome est caractérisé par une insuffisance pancréatique exocrine, une anémie dysérythropoïétique et une hyperostose au niveau du crâne."},"de":{"name":"Pankreasinsuffizienz-Anämie-Hyperostose-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch exokrine Pankreas-Insuffizienz, dyserythropoetische Anämie und Hyperostose des knöchernen Schädeldaches."},"es":{"name":"Síndrome de insuficiencia pancreática-anemia-hiperostosis","definition":"Este síndrome se caracteriza por insuficiencia pancreática exocrina, anemia diseritropoyética, e hiperostosis calvaria."},"it":{"name":"Insufficienza pancreatica - anemia - iperostosi","definition":"La sindrome è caratterizzata da insufficienza pancreatica esocrina, anemia diseritropoietica e iperostosi della volta cranica."},"nl":{"name":"Pancreasinsufficiëntie - anemie - hyperostose-syndroom","definition":"Een syndroom, gekenmerkt door insufficiëntie van exocriene pancreas, dyserytropoëtische anemie, en hyperostose van calvaria."},"pt":{"name":"Insuficiência pancreática - anemia - hiperostose","definition":"Esta síndrome é caracterizada por insuficiência pancreática exócrina, anemia diseritropoiética e hiperostose calvárica."},"pl":{"name":"Niewydolność trzustki - niedokrwistość - hiperostoza"},"cs":{"name":"Syndrom zahrnující pankreatickou insuficienci, anémii a hyperostózu"},"uk":{"name":"Синдром панкреатичної недостатності-анемії-гіперостозу","definition":"A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis."},"zh":{"name":"胰脏外分泌功能不足-贫血-骨肥大综合症","definition":"胰腺功能不全-贫血-骨质增生综合征的特征为胰腺外分泌功能不全、红细胞生成障碍性贫血和颅骨骨质增生。"},"tr":{"name":"Pankreas yetmezliği-anemi-hiperostoz sendromu"}},"xrefs":[{"source":"OMIM","code":"612714","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1459270972"},{"source":"MONDO","code":"0012992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":293830,"name":"Constitutional dyserythropoietic anemia","classifications":[156,194]},{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]}],"children":[],"genes":[{"symbol":"COX4I2","name":"cytochrome c oxidase subunit 4I2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16232","ensembl":"ENSG00000131055","omim":"607976","loci":["20q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"19268275[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19268275[PMID]"}],"phenotypes":null}