{"orpha":231512,"name":"Hermansky-Pudlak syndrome due to BLOC-2 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HPS without pulmonary fibrosis","Hermansky-Pudlak syndrome without pulmonary fibrosis"],"definition":"A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis and, in some cases, granulomatous colitis, but without neutropenia or pulmonary fibrosis as a complication.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231512/","orphanet_url":"https://www.orpha.net/en/disease/detail/231512","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak par déficit en BLOC-2","synonyms":["HPS sans fibrose pulmonaire","SHP sans fibrose pulmonaire","Syndrome de Hermansky-Pudlak sans fibrose pulmonaire"],"definition":"Forme du syndrome d'Hermansky-Pudlak caractérisée par un albinisme oculaire ou oculocutané syndromique qui peut se manifester par une diathèse hémorragique et, dans certains cas, par une colite, granulomateuse, sans toutefois entraîner de complications telles qu'une neutropénie ou une fibrose pulmonaire."},"de":{"name":"Hermansky-Pudlak-Syndrom durch BLOC-2-Defizienz","synonyms":["HPS ohne Lungenfibrose","Hermansky-Pudlak-Syndrom ohne pulmonale Fibrose"],"definition":"Eine Form des Hermansky-Pudlak-Syndroms, die durch einen syndromalen okulären oder okulokutanen Albinismus gekennzeichnet ist, der mit einer Blutungsneigung und in einigen Fällen mit einer granulomatösen Kolitis einhergehen kann, jedoch ohne Neutropenie oder Lungenfibrose als Komplikation."},"es":{"name":"Síndrome de Hermansky-Pudlak por deficiencia de BLOC-2","synonyms":["HPS sin fibrosis pulmonar","Síndrome de Hermansky-Pudlak sin fibrosis pulmonar"],"definition":"Es una forma del síndrome de Hermansky-Pudlak caracterizada por albinismo ocular u oculocutáneo sindrómico que puede presentarse con diátesis hemorrágica y, en algunos casos, con colitis granulomatosa, pero sin otras complicaciones, como neutropenia o fibrosis pulmonar."},"it":{"name":"Sindrome di Hermansky-Pudlak da deficit di BLOC-2","synonyms":["HPS senza fibrosi polmonare","Sindrome di Hermansky-Pudlak senza fibrosi polmonare"]},"nl":{"name":"Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-2","synonyms":["HPS zonder longfibrose","Syndroom van Hermansky-Pudlak zonder longfibrose"],"definition":"Een vorm van syndroom van Hermansky-Pudlak, gekenmerkt door syndromaal oculair of oculocutaan albinisme dat zich kan presenteren met bloedingsneiging en, in sommige gevallen, granulomateuze colitis, maar zonder neutropenie of longfibrose als complicatie."},"pt":{"name":"Síndrome Hermansky-Pudlak por deficiência BLOC-2","synonyms":["HPS sem fibrose pulmonar"],"definition":"O síndrome de Hermansky-Pudlak sem fibrose pulmunar como complicação inclui três tipos relativamente leves (HPS-3, HPS-5 e HPS-6) do síndrome de Hermansky-Pudlak (HPS; ver este termo), uma patologia multissistemica caracterizada por albinismo ocular ou oculocutâneo, diátese hemorrágica e, nalguns casos, colite granulomatosa."},"pl":{"name":"Zespół Hermansky'ego i Pudlaka bez włóknienia płuc","synonyms":["HPS bez włóknienia płuc","Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-2"]},"cs":{"name":"Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-2","synonyms":["HPS bez plicní fibrózy","Heřmanského-Pudlákův syndrom bez plicní fibrózy","Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-2","Heřmansky-Pudlákův syndrom bez plicní fibrózy"]},"uk":{"name":"Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-2","synonyms":["Синдром Германського-Пудлака без легеневого фіброзу","ГПС без легеневого фіброзу"],"definition":"Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis."},"zh":{"name":"赫曼斯基-普德拉克综合征不伴肺纤维化","synonyms":["HPS不伴肺纤维化"],"definition":"Hermansky-Pudlak综合征不合并肺纤维化包括三种相对较轻的类型（HPS-3、HPS-5和HPS-6）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肉芽肿性结肠炎为特征的多系统疾病。"},"tr":{"name":"Pulmoner fibrozsuz Hermansky-Pudlak sendromu","synonyms":["Pulmoner fibroz olmayan HPS"]}},"xrefs":[{"source":"OMIM","code":"614072","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614074","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614075","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":"1363499932"},{"source":"MONDO","code":"0016502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679833","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]}],"children":[],"genes":[{"symbol":"HPS3","name":"HPS3 biogenesis of lysosomal organelles complex 2 subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"15597","ensembl":"ENSG00000163755","omim":"606118","loci":["3q24"]},{"symbol":"HPS5","name":"HPS5 biogenesis of lysosomal organelles complex 2 subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17022","ensembl":"ENSG00000110756","omim":"607521","loci":["11p15.1"]},{"symbol":"HPS6","name":"HPS6 biogenesis of lysosomal organelles complex 2 subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"18817","ensembl":"ENSG00000166189","omim":"607522","loci":["10q24.32"]}],"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}