{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"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 or immunodeficiency, but no pulmonary fibrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231531/","orphanet_url":"https://www.orpha.net/en/disease/detail/231531","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak par déficit en BLOC-1","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 ou une immunodéficience, et ce, en l'absence de fibrose pulmonaire."},"de":{"name":"Hermansky-Pudlak-Syndrom durch BLOC-1-Defizienz","synonyms":["HPS7"],"definition":"Eine Subtyp des Hermansky-Pudlak-Syndroms, der sich durch einen okulären oder okulokutanen Albinismus auszeichnet und mit einer Blutungsneigung sowie in einigen Fällen mit granulomatöser Kolitis oder einem Immundefekt, jedoch nicht mit Lungenfibrose, einhergehen kann."},"es":{"name":"Síndrome de Hermansky-Pudlak por deficiencia de BLOC-1","definition":"Es una forma del síndrome de Hermansky-Pudlak caracterizado por albinismo ocular u oculocutáneo sindrómico. Puede presentarse con diátesis hemorrágica y, en algunos casos, con colitis granulomatosa o inmunodeficiencia, pero sin fibrosis pulmonar."},"it":{"name":"Sindrome di Hermansky-Pudlak da deficit di BLOC-1"},"nl":{"name":"Syndroom van Hermansky-Pudlak door deficiëntie van BLOC-1","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 met granulomateuze colitis of immuundeficiëntie, maar niet met longfibrose."},"pt":{"name":"Síndrome Hermansky-Pudlak por deficiência BLOC-1"},"pl":{"name":"Zespół Hermansky'ego i Pudlaka typu 7","synonyms":["HPS7","Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-1"],"definition":"ostać zespołu Hermansky'ego-Pudlaka charakteryzująca się syndromicznym albinizmem ocznym lub oczno-skórnym, któremu może towarzyszyć skaza krwotoczna, a w niektórych przypadkach ziarniniakowe zapalenie jelit lub niedobór odporności, ale bez włóknienia płuc."},"cs":{"name":"Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-1","synonyms":["HPS7","Heřmanského-Pudlákův syndrom, typ 7","Heřmanský-Pudlákův syndrom způsobený deficitem BLOC-1","Heřmansky-Pudlákův syndrom, typ 7"]},"uk":{"name":"Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-1"},"zh":{"name":"赫曼斯基-普德拉克综合征7型","synonyms":["HPS7"]},"tr":{"name":"Hermansky-Pudlak sendromu tip 7","synonyms":["HPS7"]}},"xrefs":[{"source":"OMIM","code":"614076","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614077","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614171","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619172","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":"1385835737"},{"source":"UMLS","code":"C5680913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":231537,"name":"Hermansky-Pudlak syndrome type 8","status":"inactive"},{"type":"Moved to","orpha":280663,"name":"Hermansky-Pudlak syndrome type 9","status":"inactive"}],"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":"BLOC1S3","name":"biogenesis of lysosomal organelles complex 1 subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16420244[PMID]_27514596[PMID]_20301464[PMID]","hgnc":"20914","ensembl":"ENSG00000189114","omim":"609762","loci":["19q13.32"]},{"symbol":"BLOC1S5","name":"biogenesis of lysosomal organelles complex 1 subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16420244[PMID]_27514596[PMID]_20301464[PMID]","hgnc":"18561","ensembl":"ENSG00000188428","omim":"607289","loci":["6p24.3"]},{"symbol":"BLOC1S6","name":"biogenesis of lysosomal organelles complex 1 subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16420244[PMID]_27514596[PMID]_20301464[PMID]","hgnc":"8549","ensembl":"ENSG00000104164","omim":"604310","loci":["15q21.1"]},{"symbol":"DTNBP1","name":"dystrobrevin binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12923531[PMID]","hgnc":"17328","ensembl":"ENSG00000047579","omim":"607145","loci":["6p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"12923531[PMID]_23364359[PMID]_22461475[PMID]_16385460[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}