{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency","Hermansky-Pudlak syndrome with neutropenia"],"definition":"A form of Hermansky-Pudlak syndrome (HPS) characterized by oculocutaneous albinism, bleeding diathesis, neutropenia, and in some cases, pulmonary fibrosis, neurologic involvement, or hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183678/","orphanet_url":"https://www.orpha.net/en/disease/detail/183678","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak par déficit en AP-3","synonyms":["Syndrome de Hermansky-Pudlak avec neutropénie","Syndrome de Hermansky-Pudlak dû à un déficit du complexe de protéines adaptatrices 3"],"definition":"Forme du syndrome de Hermansky-Pudlak (SHP) caractérisée par un albinisme oculocutané, une diathèse hémorragique, une neutropénie et, dans certains cas, une fibrose pulmonaire, une atteinte neurologique ou une diminution de l'acuité auditive."},"de":{"name":"Hermansky-Pudlak-Syndrom durch AP-3-Defizienz","synonyms":["Hermansky-Pudlak-Syndrom durch Adaptorprotein-3-Komplex-Mangel","Hermansky-Pudlak-Syndrom mit Neutropenie"],"definition":"Eine Subtyp des Hermansky-Pudlak-Syndroms (HPS), der durch okulokutanen Albinismus, Blutungsneigung, Neutropenie und in einigen Fällen durch Lungenfibrose, neurologische Beteiligung oder Hörverlust gekennzeichnet ist."},"es":{"name":"Síndrome de Hermansky-Pudlak por deficiencia de AP-3","synonyms":["Síndrome de Hermansky-Pudlak con neutropenia","Síndrome de Hermansky-Pudlak por deficiencia del complejo de la proteína adaptadora 3"],"definition":"Es una forma del síndrome de Hermansky-Pudlak (SHP) caracterizada por albinismo oculocutáneo, diátesis hemorrágica, neutropenia y, en algunos casos, fibrosis pulmonar, afectación neurológica o hipoacusia."},"it":{"name":"Sindrome di Hermansky-Pudlak da deficit di AP-3","synonyms":["Sindrome di Hermansky-Pudlak da deficit del complesso della proteina adattatrice 3","Sindrome di Hermansky-Pudlak con neutropenia"]},"nl":{"name":"Syndroom van Hermansky-Pudlak door deficiëntie van AP-3","synonyms":["Syndroom van Hermansky-Pudlak door deficiëntie van adaptatorproteïne complex 3","Syndroom van Hermansky-Pudlak met neutropenie"],"definition":"Een vorm van syndroom van Hermansky-Pudlak (HPS), gekenmerkt door oculocutaan albinisme, bloedingsneiging, neutropenie, en in sommige gevallen longfibrose, neurologische betrokkenheid, of gehoorverlies."},"pt":{"name":"Síndrome Hermansky-Pudlak por deficiência AP-3","synonyms":["Síndrome Hermansky-Pudlak com neutropenia","Síndrome Hermansky-Pudlak devido à deficiência relacionada com o adaptador ao complexo proteico 3"]},"pl":{"name":"Zespół Hermansky'ego i Pudlaka z neutropenią","synonyms":["HPS2","Zespół Hermansky'ego i Pudlaka typu 2","Zespół Hermanskiego-Pudlaka spowodowany niedoborem AP-3"],"definition":"Forma zespołu Hermansky'ego-Pudlaka charakteryzująca się albinizmem oczno-skórnym, skazą krwotoczną, neutropenią, a w niektórych przypadkach zwłóknieniem płuc, zajęciem układu nerwowego lub utratą słuchu."},"cs":{"name":"Heřmanského-Pudlákův syndrom způsobený deficitem AP-3","synonyms":["HPS2","Syndrom Heřmanského-Pudláka, typ 2","Heřmanského-Pudlákův syndrom s neutropenií","Heřmanský-Pudlákův syndrom způsobený deficitem AP-3","Heřmansky-Pudlákův syndrom s neutropenií","Syndrom Heřmansky-Pudláka, typ 2"]},"uk":{"name":"Синдром Германського-Пудлака внаслідок дефіциту AP-3","synonyms":["Синдром Германського-Пудлака, спричинений дефіцитом адаптантного білкового комплексу 3","Синдром Германського-Пудлака з нейтропенією","Синдром Германського-Пудлака з дефіцитом адаптерного білкового комплексу 3"],"definition":"Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."},"zh":{"name":"赫曼斯基-普德拉克综合征伴中性粒细胞减少","synonyms":["赫曼斯基-普德拉克综合征2型"],"definition":"Hermansky-Pudlak综合症2型（HPS-2）是一种Hermansky-Pudlak综合征（HPS；见该术语）的分型，是一种以眼皮肤白化病、出血倾向和中性粒细胞减少为特征的多系统疾病。"},"tr":{"name":"Nötropeni ile seyreden Hermansky-Pudlak sendromu","synonyms":["HPS2","Hermansky-Pudlak sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"608233","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1415110774"},{"source":"UMLS","code":"C1842362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79430,"name":"Hermansky-Pudlak syndrome","classifications":[150,152,156,187,189,194,233]},{"orpha":331249,"name":"Primary hemophagocytic lymphohistiocytosis with hypopigmentation","classifications":[156,195,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[{"orpha":664511,"name":"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency","type":"Clinical subtype"},{"orpha":664500,"name":"Hermansky-Pudlak syndrome due to AP3B1 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"29580292[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29580292[PMID]"}],"phenotypes":null}