| H00166 | |
| H番号 | H00166 |
| 名称 | ヘルマンスキー・パドラック症候群 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC23.20 ICD-10: E70.3 MeSH: D022861 OMIM: 203300 608233 614072 614073 614074 614075 614076 614077 614171 617050 619172 |
| 文献 | PMID:16420244 著者 Wei ML タイトル Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. 雑誌 Pigment Cell Res 19:19-42 (2006) DOI:10.1111/j.1600-0749.2005.00289.x PMID:15941404 著者 Di Pietro SM, Dell'Angelica EC タイトル The cell biology of Hermansky-Pudlak syndrome: recent advances. 雑誌 Traffic 6:525-33 (2005) DOI:10.1111/j.1600-0854.2005.00299.x PMID:12243726 著者 Starcevic M, Nazarian R, Dell'Angelica EC タイトル The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. 雑誌 Semin Cell Dev Biol 13:271-8 (2002) DOI:10.1126/science.2363050 PMID:8896559 (HPS1) 著者 Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA タイトル Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 雑誌 Nat Genet 14:300-6 (1996) DOI:10.1038/ng1196-300 PMID:10024875 (AP3B1) 著者 Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS タイトル Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 雑誌 Mol Cell 3:11-21 (1999) DOI:10.1016/s1097-2765(00)80170-7 PMID:11455388 (HPS3) 著者 Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR タイトル Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 雑誌 Nat Genet 28:376-80 (2001) DOI:10.1038/ng576 PMID:11836498 (HPS4) 著者 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 タイトル Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 雑誌 Nat Genet 30:321-4 (2002) DOI:10.1038/ng835 PMID:12548288 (HPS5 HPS6) 著者 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 タイトル Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. 雑誌 Nat Genet 33:145-53 (2003) DOI:10.1038/ng1087 PMID:12923531 (DTNBP1) 著者 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 タイトル Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 雑誌 Nat Genet 35:84-9 (2003) DOI:10.1038/ng1229 PMID:16385460 (BLOC1S3) 著者 Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER タイトル A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 雑誌 Am J Hum Genet 78:160-6 (2006) DOI:10.1086/499338 PMID:22461475 (BLOC1S6) 著者 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 タイトル Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 雑誌 Blood 119:3185-7 (2012) DOI:10.1182/blood-2012-01-404350 PMID:26744459 (AP3D1) 著者 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 タイトル Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 雑誌 Blood 127:997-1006 (2016) DOI:10.1182/blood-2015-09-671636 PMID:32565547 (BLOC1S5) 著者 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 タイトル BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. 雑誌 Genet Med 22:1613-1622 (2020) DOI:10.1038/s41436-020-0867-5 |