| H00166 | |
| H number | H00166 |
| Name | Hermansky-Pudlak syndrome |
| Description | Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (HPS1) HPS1 [HSA:3257] [KO:K20193] (HPS2) AP3B1 [HSA:8546] [KO:K12397] (HPS3) HPS3 [HSA:84343] [KO:K20190] (HPS4) HPS4 [HSA:89781] [KO:K20194] (HPS5) HPS5 [HSA:11234] [KO:K20191] (HPS6) HPS6 [HSA:79803] [KO:K20192] (HPS7) DTNBP1 [HSA:84062] [KO:K20189] (HPS8) BLOC1S3 [HSA:388552] [KO:K20186] (HPS9) BLOC1S6 [HSA:26258] [KO:K20188] (HPS10) AP3D1 [HSA:8943] [KO:K12396] (HPS11) BLOC1S5 [HSA:63915] [KO:K20187] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.20 ICD-10: E70.3 MeSH: D022861 OMIM: 203300 608233 614072 614073 614074 614075 614076 614077 614171 617050 619172 |
| Reference | PMID:16420244 AUTHORS Wei ML TITLE Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. JOURNAL Pigment Cell Res 19:19-42 (2006) DOI:10.1111/j.1600-0749.2005.00289.x PMID:15941404 AUTHORS Di Pietro SM, Dell'Angelica EC TITLE The cell biology of Hermansky-Pudlak syndrome: recent advances. JOURNAL Traffic 6:525-33 (2005) DOI:10.1111/j.1600-0854.2005.00299.x PMID:12243726 AUTHORS Starcevic M, Nazarian R, Dell'Angelica EC TITLE The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. JOURNAL Semin Cell Dev Biol 13:271-8 (2002) DOI:10.1126/science.2363050 PMID:8896559 (HPS1) AUTHORS Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA TITLE Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. JOURNAL Nat Genet 14:300-6 (1996) DOI:10.1038/ng1196-300 PMID:10024875 (AP3B1) AUTHORS Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS TITLE Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. JOURNAL Mol Cell 3:11-21 (1999) DOI:10.1016/s1097-2765(00)80170-7 PMID:11455388 (HPS3) AUTHORS Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR TITLE Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. JOURNAL Nat Genet 28:376-80 (2001) DOI:10.1038/ng576 PMID:11836498 (HPS4) AUTHORS Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA TITLE Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. JOURNAL Nat Genet 30:321-4 (2002) DOI:10.1038/ng835 PMID:12548288 (HPS5 HPS6) AUTHORS Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT TITLE Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. JOURNAL Nat Genet 33:145-53 (2003) DOI:10.1038/ng1087 PMID:12923531 (DTNBP1) AUTHORS Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT TITLE Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). JOURNAL Nat Genet 35:84-9 (2003) DOI:10.1038/ng1229 PMID:16385460 (BLOC1S3) AUTHORS Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER TITLE A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). JOURNAL Am J Hum Genet 78:160-6 (2006) DOI:10.1086/499338 PMID:22461475 (BLOC1S6) AUTHORS Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF TITLE Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. JOURNAL Blood 119:3185-7 (2012) DOI:10.1182/blood-2012-01-404350 PMID:26744459 (AP3D1) AUTHORS Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S TITLE Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. JOURNAL Blood 127:997-1006 (2016) DOI:10.1182/blood-2015-09-671636 PMID:32565547 (BLOC1S5) AUTHORS Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Beatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B TITLE BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. JOURNAL Genet Med 22:1613-1622 (2020) DOI:10.1038/s41436-020-0867-5 |