KEGG   DISEASE: ヘルマンスキー・パドラック症候群
エントリ  
H00166                                                             
名称    
ヘルマンスキー・パドラック症候群
  上位グループ
リソソーム輸送障害 [DS:H02128]
ライソゾーム病 (リソソーム蓄積症) [DS:H01425]
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC23  皮膚色素沈着の遺伝性疾患
    H00166  ヘルマンスキー・パドラック症候群
パスウェイ 
hsa04142  Lysosome
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]
リンク   
ICD-11: EC23.20
MeSH: D022861
OMIM: 203300 608233 614072 614073 614074 614075 614076 614077 614171 617050 619172
文献    
  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
文献    
  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
文献    
  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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
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