{"orpha":79430,"name":"Hermansky-Pudlak syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPS"],"definition":"A rare multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. The clinical subtypes of Hermansky-Pudlak syndrome (HPS) often present the same clinical phenotype but have different associated complications with varying degrees of severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79430/","orphanet_url":"https://www.orpha.net/en/disease/detail/79430","names":{"fr":{"name":"Syndrome de Hermansky-Pudlak","synonyms":["SHP"],"definition":"Maladie multisystémique rare caractérisée par un albinisme oculocutané, une diathèse hémorragique et, dans certains cas, une neutropénie, une fibrose pulmonaire ou une colite granulomateuse. Les sous-types cliniques du syndrome de Hermansky-Pudlak (SHP) présentent souvent le même phénotype clinique, mais les complications associées et les degrés de sévérité sont variables."},"de":{"name":"Hermansky-Pudlak-Syndrom","synonyms":["HPS"],"definition":"Eine seltene Multisystemerkrankung, die durch okulokutanen Albinismus, Blutungsdiathese und in einigen Fällen durch Neutropenie, Lungenfibrose oder granulomatöse Kolitis gekennzeichnet ist. Die klinischen Subtypen des Hermansky-Pudlak-Syndroms (HPS) weisen oft den gleichen klinischen Phänotyp auf, haben aber unterschiedliche Komplikationen mit unterschiedlichem Schweregrad."},"es":{"name":"Síndrome de Hermansky-Pudlak","synonyms":["HPS"],"definition":"Es un trastorno multisistémico poco frecuente caracterizado por albinismo oculocutáneo, diátesis hemorrágica y, en algunos casos, neutropenia, fibrosis pulmonar o colitis granulomatosa. Los subtipos clínicos del síndrome de Hermansky-Pudlak (SHP) suelen presentar el mismo fenotipo clínico, pero asocian diferentes complicaciones con diversos grados de gravedad."},"it":{"name":"Sindrome di Hermansky-Pudlak","synonyms":["HPS"]},"nl":{"name":"Syndroom van Hermansky-Pudlak","synonyms":["HPS"],"definition":"Een zeldzame multisystemische aandoening, gekenmerkt door oculocutaan albinisme, bloedingsneiging en, in sommige gevallen, neutropenie, longfibrose, of granulomateuze colitis. De klinische subtypes van syndroom van Hermansky-Pudlak (HPS) vertonen vaak hetzelfde klinische fenotype, maar hebben verschillende geassocieerde complicaties met variabele gradaties van ernst."},"pt":{"name":"Síndrome de Hermansky-Pudlak"},"pl":{"name":"Zespół Hermansky'ego i Pudlaka","synonyms":["HPS"]},"cs":{"name":"Heřmanského-Pudlákův syndrom","synonyms":["HPS","Heřmanský-Pudlákův syndrom"]},"uk":{"name":"Синдром Германського-Пудлака","synonyms":["HPS"],"definition":"Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."},"zh":{"name":"赫曼斯基-普德拉克综合征","synonyms":["HPS"]},"tr":{"name":"Hermansky-Pudlak sendromu","synonyms":["HPS"]}},"xrefs":[{"source":"OMIM","code":"203300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608233","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614072","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614073","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":"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":"617050","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":"inclusion","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2089801290"},{"source":"MONDO","code":"0019312","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D022861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079504","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98456,"name":"Dense granule disease","classifications":[156,194]},{"orpha":309340,"name":"Disorder of lysosomal-related organelles","classifications":[150,156]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]}],"children":[{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","type":"Clinical subtype"},{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency","type":"Clinical subtype"},{"orpha":231512,"name":"Hermansky-Pudlak syndrome due to BLOC-2 deficiency","type":"Clinical subtype"},{"orpha":231500,"name":"Hermansky-Pudlak syndrome due to BLOC-3 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}},{"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"],"via":{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}},{"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"],"via":{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}},{"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"],"via":{"orpha":231531,"name":"Hermansky-Pudlak syndrome due to BLOC-1 deficiency"}},{"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"],"via":{"orpha":231500,"name":"Hermansky-Pudlak syndrome due to BLOC-3 deficiency"}},{"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"],"via":{"orpha":231512,"name":"Hermansky-Pudlak syndrome due to BLOC-2 deficiency"}},{"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"],"via":{"orpha":231500,"name":"Hermansky-Pudlak syndrome due to BLOC-3 deficiency"}},{"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"],"via":{"orpha":231512,"name":"Hermansky-Pudlak syndrome due to BLOC-2 deficiency"}},{"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"],"via":{"orpha":231512,"name":"Hermansky-Pudlak syndrome due to BLOC-2 deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":55.0,"area":"Puerto rico","status":"Validated","source":"7573033[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007443","label":"Partial albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0400008","label":"Menometrorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}