{"orpha":2966,"name":"Properdin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2966/","orphanet_url":"https://www.orpha.net/en/disease/detail/2966","names":{"fr":{"name":"Déficit en properdine","definition":"Déficit immunitaire rare et héréditaire dû à une anomalie de la cascade du complément caractérisé par une sensibilité nettement accrue aux infections par les espèces de <i>Neisseria</i>. N'affectant que les hommes, le déficit se manifeste généralement par une forme grave ou fulminante de la maladie à méningocoque."},"de":{"name":"Properdin-Mangel"},"es":{"name":"Deficiencia de properdina","definition":"La deficiencia de properdina es una inmunodeficiencia primaria hereditaria poco frecuente debida a una anomalía de las proteínas del sistema del complemento. Está caracterizada por una susceptibilidad significativamente mayor a infecciones por especies de Neisseria. Afecta únicamente a varones, que suelen presentar enfermedad meningocócica grave o fulminante."},"it":{"name":"Deficit di properdina","definition":"Il deficit di properdina è un'immunodeficienza primitiva ereditaria rara, causata da un'anomalia di una proteina della cascata del complemento, caratterizzata da un aumento della suscettibilità alle infezioni da Neisseria. Colpisce solo gli uomini, di solito sotto forma di malattia meningococcica grave o fulminante."},"nl":{"name":"Properdinedeficiëntie","definition":"Properdinedeficiëntie is een zeldzame, erfelijke, primaire immuundeficiëntie als gevolg van een anomalie van een proteïne van de complementcascade, en wordt gekarakteriseerd door significant verhoogde susceptibiliteit voor infecties door soorten van het geslacht <i>Neisseria</i>. Het treft enkel mannen, en manifesteert zich doorgaans met ernstige of fulminante meningokokkenziekte."},"pt":{"name":"Deficiência de properdina"},"pl":{"name":"Niedobór properdyny","definition":"*Niedobór properdyny jest rzadkim, dziedzicznym, pierwotnym niedoborem odporności, spowodowanym zaburzeniami kaskady białek dopełniacza, który charakteryzuje się znacznie zwiększoną podatnością na zakażenie wywołane przez bakterii rodzaju Neisseria. Występuje tylko u mężczyzn i typowo przebiega w postaci choroby meningokokowej o poważnym lub piorunującym przebiegu."},"cs":{"name":"Deficit properdinu"},"uk":{"name":"Дефіцит пропердину","definition":"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."},"zh":{"name":"备解素缺陷症"},"tr":{"name":"Properdin eksikliği"}},"xrefs":[{"source":"OMIM","code":"312060","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"877208883"},{"source":"MONDO","code":"0010713","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":459348,"name":"Immunodeficiency due to a complement regulatory deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CFP","name":"complement factor properdin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8871668[PMID]","hgnc":"8864","ensembl":"ENSG00000126759","omim":"300383","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}