{"orpha":664500,"name":"Hermansky-Pudlak syndrome due to AP3B1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HPS2","Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency","Hermansky-Pudlak syndrome type 2","Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency"],"definition":null,"note":"This disease is described under Hermansky-Pudlak syndrome due to AP-3 deficiency","url":"https://raremap.alftech.space/d/ORPHA-664500/","orphanet_url":"https://www.orpha.net/en/disease/detail/664500","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak par déficit en AP3B1","synonyms":["HSP2","SHP2","Syndrome de Hermansky-Pudlak avec neutropénie par déficit en AP3B1","Syndrome de Hermansky-Pudlak par déficit en protéine adaptator-related protein complex 3 subunit beta1","Syndrome de Hermansky-Pudlak type 2"]},"de":{"name":"Hermansky-Pudlak-Syndrom durch AP3B1-Mangel","synonyms":["HPS2","Hermansky-Pudlak-Syndrom Typ 2","Hermansky-Pudlak-Syndrom aufgrund eines Mangels der beta 1-Untereinheit des Adaptorprotein-Komplex 3","Hermansky-Pudlak-Syndrom mit Neutropenie durch AP3B1-Defizienz"]},"es":{"name":"Síndrome de Hermansky-Pudlak por deficiencia de AP3B1","synonyms":["HPS2","Síndrome de Hermansky-Pudlak con neutropenia por deficiencia de AP3B1","Síndrome de Hermansky-Pudlak por deficiencia de la subunidad beta 1 del complejo adaptador 3","Síndrome de Hermansky-Pudlak tipo 2"]},"it":{"name":"Sindrome di Hermansky-Pudlak da deficit di AP3B1","synonyms":["Sindrome di Hermansky-Pudlak da deficit della subunità beta1 del complesso 3 della proteina correlata all'adattatore","SHP2","Sindrome di Hermansky-Pudlak con neutropenia da deficit di AP3B1","Sindrome di Hermansky-Pudlak da deficit della subunità beta1 del complesso 3 della proteina correlata all'adattatore","Sindrome di Hermansky-Pudlak tipo 2"]},"nl":{"name":"Syndroom van Hermansky-Pudlak door AP3B1-deficiëntie","synonyms":["HSP2","Syndroom van Hermansky-Pudlak door deficiëntie van adaptatorgerelateerd proteïnecomplex 3 subeenheid bèta1","Syndroom van Hermansky-Pudlak met neutropenie door AP3B1-deficiëntie","Syndroom van Hermansky-Pudlak type 2"]},"pt":{"name":"Síndrome Hermansky-Pudlak devido a deficiência AP3B1","synonyms":["HPS2","Síndrome Hermansky-Pudlak por deficiência do adaptador relacionado com a subunidade beta1 do complexo proteico 3","Síndrome Hermansky-Pudlak com neutropenia por deficiência AP3B1","Síndrome Hermansky-Pudlak tipo 2"]},"pl":{"name":"Zespół Hermansky'ego-Pudlaka spowodowany niedoborem AP3B1","synonyms":["HPS2","Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency","Hermansky-Pudlak syndrome type 2","Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency"]},"cs":{"name":"Heřmanského-Pudlákův syndrom způsobený deficitem AP3B1","synonyms":["Heřmanský-Pudlák syndrom způsobený deficitem AP3B1"]},"uk":{"name":"Синдром Германського-Пудлака, зумовлений дефіцитом AP3B1","synonyms":["Синдром Германського-Пудлака, зумовлений дефіцитом субодиниці бета1 адаптерного білкового комплексу 3","Синдром Германського-Пудлака, тип 2","Синдром Германського-Пудлака з нейтропенією внаслідок дефіциту AP3B1","HPS2"],"definition":"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."}},"xrefs":[{"source":"MONDO","code":"0011997","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5889871","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","classifications":[150,152,156,187,189,194,195,233]}],"children":[],"genes":[{"symbol":"AP3B1","name":"adaptor related protein complex 3 subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10024875[PMID]","hgnc":"566","ensembl":"ENSG00000132842","omim":"603401","loci":["5q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}