{"orpha":251523,"name":"Hyperzincemia and hypercalprotectinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hz/Hc","PAMI syndrome","PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome"],"definition":"A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251523/","orphanet_url":"https://www.orpha.net/en/disease/detail/251523","names":{"fr":{"name":"Hyperzincémie et hypercalprotectinémie","synonyms":["Hz/Hc","Syndrome PAMI"],"definition":"Anomalie innée rare du métabolisme du zinc caractérisée par des infections récurrentes, une hépatosplénomégalie, une anémie (ne répondant pas à une supplémentation en fer) et une inflammation systémique chronique en présence de concentrations plasmatiques élevées de zinc et de calprotectine. Les patients présentent généralement des ulcères cutanés ou d'autres manifestations cutanées (à type d'inflammation) et des arthralgies. Des épistaxis sévères et des hématomes spontanés ont également été rapportés."},"de":{"name":"Hyperzinkämie und Hypercalprotectinämie","synonyms":["Hz/Hc","PAMI-Syndrom","PSTPIP1-assoziiertes Entzündungssyndrom mit MRP8/14-Proteinämie","PSTPIP1-assoziiertes inflammatorisches Syndrom mit MRP8/14-Proteinämie"]},"es":{"name":"Hiperzincemia e hipercalprotectinemia","synonyms":["Hz/Hc","Síndrome PAMI","Síndrome inflamatorio asociado a PSTPIP1 con proteinemia mieloide"],"definition":"Es un error innato del metabolismo del zinc poco frecuente caracterizado por infecciones recurrentes, hepatoesplenomegalia, anemia (que no responde a la suplementación con hierro) e inflamación sistémica crónica en presencia de elevadas concentraciones plasmáticas de zinc y calprotectina. Los afectados suelen presentar úlceras dérmicas u otras manifestaciones cutáneas (p. ej., inflamación) y artralgia. También se han descrito casos de epistaxis grave y hematomas espontáneos."},"it":{"name":"Iperzinchemia e ipercalprotectinemia","synonyms":["Iperzinchemia e ipercalprotectinemia"],"definition":"L'iperzinchemia associata a ipercalprotectinemia è un errore congenito raro del metabolismo dello zinco, caratterizzato da infezioni ricorrenti, epatosplenomegalia, anemia (che non risponde all'integrazione di ferro) e infiammazione sistemica cronica, in presenza di concentrazioni elevate di zinco e calprotectina nel plasma. Di solito i pazienti presentano ulcere del derma o altri segni a livello cutaneo (ad esempio infiammazione) ed artralgia. Sono stati descritti pazienti con grave epistassi ed ematomi spontanei."},"nl":{"name":"Hyperzinkemie en hypercalprotectinemie","synonyms":["Hz/Hc","PAMI-syndroom","PSTPIP1-geassocieerd inflammatoir syndroom met myeloïd-gerelateerd proteïnemie"],"definition":"Een aangeboren stoornis van zinkmetabolisme, gekarakteriseerd door terugkerende infecties, hepatosplenomegalie, anemie (ongevoelig voor ijzersuppletie) en chronische systemische inflammatie, in aanwezigheid van hoge concentraties van zink en calprotectine in plasma. Patiënten vertonen doorgaans huidzweren en andere cutane manifestaties (e.g. inflammatie) en artralgie. Ernstige epistaxis en spontane hematomen werden ook reeds gerapporteerd."},"pt":{"name":"Infecções recorrentes - síndrome inflamatório por deficiência no metabolismo do zinco","synonyms":["Hiperzincemia e hipercalprotectinemia"]},"pl":{"name":"Nadmierne stężenie cynku i kalprotektyny we krwi","synonyms":["Hz/Hc","PAMI syndrome","PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome"],"definition":"*Nadmierne stężenie cynku i kalprotektyny we krwi jest rzadkim wrodzonym błędem metabolicznym, dotyczącym przemian cynku, który charakteryzuje się nawracającymi zakażeniami, powiększeniem wątroby i śledziony, niedokrwistością (niereagującą na suplementację żelazem) oraz przewlekłym ogólnoustrojowym stanem zapalnym przy obecności wysokiego stężenia cynku i kalprotektyny w osoczu. U pacjentów zwykle występują owrzodzenia skóry lub inne objawy skórne (np. zmiany zapalne) i bóle stawów. Zgłaszano również ciężkie krwawienia z nosa oraz spontanicznie tworzenie się krwiaków."},"cs":{"name":"Syndrom zahrnující rekurentní infekce a zánět, způsobené poruchou metabolismu zinku","synonyms":["Hyperzinkémie a hyperkalprotektinémie"]},"uk":{"name":"Гіперцинкемія та гіперкальпротектинемія","synonyms":["Hz/Hc","Синдром PAMI","PSTPIP1-асоційований запальний синдром мієлоїдної протеїнемії"],"definition":"A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported."},"zh":{"name":"高锌血症和高钙蛋白血症","synonyms":["PSTPIP1基因相关髓样相关蛋白血症炎症综合征"],"definition":"一种罕见的先天性锌代谢错误，其特征是反复感染、肝脾肿大、贫血(补充铁剂无效)以及在血浆锌和钙卫蛋白浓度较高时出现的慢性全身炎症。患者通常表现为皮肤溃疡或其他皮肤表现(如炎症)和关节痛。严重的鼻出血和自发性血肿也有报道。"},"tr":{"name":"Hiperzinkemi ve hiperkalprotektinemi","synonyms":["Hz/Hc","PAMI sendromu","PSTPIP1-ilişkili miyeloid ilişkili proteinemi inflamatuar sendrom"]}},"xrefs":[{"source":"OMIM","code":"601979","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1689992449"},{"source":"MONDO","code":"11174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4760957","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":309845,"name":"Disorder of zinc metabolism and transport","classifications":[150,156]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156,187]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"PSTPIP1","name":"proline-serine-threonine phosphatase interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26025129[PMID]","hgnc":"9580","ensembl":"ENSG00000140368","omim":"606347","loci":["15q24.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"12480428[PMID]_10.1007/978-3-319-96929-9_4[DOI]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10.1007/978-3-319-96929-9_4[DOI]"}],"phenotypes":null}