{"orpha":231500,"name":"Hermansky-Pudlak syndrome due to BLOC-3 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HPS with pulmonary fibrosis","Hermansky-Pudlak syndrome with pulmonary fibrosis"],"definition":"A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (<i>HPS1</i> and <i>HPS4</i>).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231500/","orphanet_url":"https://www.orpha.net/en/disease/detail/231500","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak par déficit en BLOC-3","synonyms":["HPS avec fibrose pulmonaire","SHP avec fibrose pulmonaire","Syndrome de Hermansky-Pudlak avec fibrose pulmonaire"],"definition":"Forme du syndrome d'Hermansky-Pudlak caractérisée par un albinisme oculocutané, une diathèse hémorragique et une fibrose pulmonaire ou une colite granulomateuse, mais sans neutropénie. Le pronostic du syndrome d'Hermansky-Pudlak par déficit en BLOC-3 est défavorable et deux étiologies génétiques (<i>HPS1</i> et <i>HPS4</i>) sont observées."},"de":{"name":"Hermansky-Pudlak-Syndrom durch BLOC-3-Defizienz","synonyms":["HPS mit Lungenfibrose","Hermansky-Pudlak-Syndrom mit pulmonaler Fibrose"],"definition":"Eine Form des Hermansky-Pudlak-Syndroms, die durch okulokutanen Albinismus, Blutungsneigung und Lungenfibrose oder granulomatöse Kolitis, jedoch ohne Neutropenie, gekennzeichnet ist. Das Hermansky-Pudlak-Syndrom aufgrund eines BLOC-3-Mangels hat eine schlechte Prognose und umfasst zwei genetische Ätiologien (<i>HPS1</i> und <i>HPS4</i>)."},"es":{"name":"Síndrome de Hermansky-Pudlak por deficiencia de BLOC-3","synonyms":["HPS con fibrosis pulmonar","Síndrome de Hermansky-Pudlak con fibrosis pulmonar"],"definition":"Es una forma de síndrome de Hermansky-Pudlak caracterizada por albinismo oculocutáneo, diátesis hemorrágica y fibrosis pulmonar o colitis granulomatosa, pero sin neutropenia. El síndrome de Hermansky-Pudlak por deficiencia de BLOC-3 tiene un pronóstico grave e incluye dos etiologías genéticas (<i>HPS1</i> y <i>HPS4</i>)."},"it":{"name":"Sindrome di Hermansky-Pudlak da deficit di BLOC-3","synonyms":["HPS con fibrosi polmonare","Sindrome di Hermansky-Pudlak con fibrosi polmonare"]},"nl":{"name":"Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-3","synonyms":["HPS met longfibrose","Syndroom van Hermansky-Pudlak met longfibrose"],"definition":"Een vorm van syndroom van Hermansky-Pudlak, gekenmerkt door oculocutaan albinisme, bloedingsneiging en longfibrose of granulomateuze colitis, maar zonder neutropenie. Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-3 heeft een ernstige prognose en omvat twee genetische etiologieën (<i>HPS1</i> en <i>HPS4</i>)."},"pt":{"name":"Síndrome Hermansky-Pudlak por deficiência BLOC-3","synonyms":["HPS com fibrose pulmonar"],"definition":"O síndrome de Hermansky-Pudlak com fibrose pulmunar como complicação inclui dois tipos (HPS-1 e HPS-4) do síndrome de Hermansky-Pudlak (HPS; ver este termo), que é uma patologia multissistémica caracterizada por albinismo oculocutâneo, diátese hemorrágica e, em alguns casos, fibrose pulmonar ou colite granulomatosa."},"pl":{"name":"Zespół Hermansky'ego i Pudlaka z włóknieniem płuc","synonyms":["HPS z włóknieniem płuc","Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-3"]},"cs":{"name":"Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-3","synonyms":["HPS s plicní fibrózou","Heřmanského-Pudlákův syndrom s plicní fibrózou","Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-3","Heřmansky-Pudlákův syndrom s plicní fibrózou"]},"uk":{"name":"Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-3","synonyms":["Синдром Германського-Пудлака з легеневим фіброзом","ГПС з легеневим фіброзом"],"definition":"Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis."},"zh":{"name":"赫曼斯基-普德拉克综合征伴肺纤维化","synonyms":["HPS伴肺纤维化"],"definition":"Hermansky-Pudlak综合征合并肺纤维化包括两种类型（HPS-1和HPS-4）的Hermansky-Pudlak综合征（HPS；见该词条），是一种以眼皮肤白化病、出血素质和某些情况下出现肺纤维化或肉芽肿性结肠炎为特征的多系统疾病。"},"tr":{"name":"Pulmoner fibroz ile seyreden Hermansky-Pudlak sendromu","synonyms":["Pulmoner fibroz ile seyreden HPS"]}},"xrefs":[{"source":"OMIM","code":"203300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614073","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":"1086187623"},{"source":"MONDO","code":"0016501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679834","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":264719,"name":"Secondary interstitial lung disease specific to childhood associated with a metabolic disease","classifications":[184,233]}],"children":[],"genes":[{"symbol":"HPS1","name":"HPS1 biogenesis of lysosomal organelles complex 3 subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5163","ensembl":"ENSG00000107521","omim":"604982","loci":["10q24.2"]},{"symbol":"HPS4","name":"HPS4 biogenesis of lysosomal organelles complex 3 subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"15844","ensembl":"ENSG00000100099","omim":"606682","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}