Hermansky-Pudlak syndrome

Definition:

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.

References:

[1]. E C Dell'Angelica, et al. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. 1999 Jan;3(1):11-21. [Content Brief]

[2]. J Oh, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996 Nov;14(3):300-6. [Content Brief]

[3]. M G Peterson, et al. Functional domains and upstream activation properties of cloned human TATA binding protein. Science. 1990 Jun 29;248(4963):1625-30. [Content Brief]

[4]. Maria L Wei, et al. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006 Feb;19(1):19-42. [Content Brief]

[5]. Neil V Morgan, et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet. 2006 Jan;78(1):160-6. [Content Brief]

[6]. Perrine Pennamen, et al. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet Med. 2020 Oct;22(10):1613-1622. [Content Brief]

[7]. Qing Zhang, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb;33(2):145-53. [Content Brief]

[8]. Raffaele Badolato, et al. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood. 2012 Mar 29;119(13):3185-7. [Content Brief]

[9]. Sandra Ammann, et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. [Content Brief]

[10]. Santiago M Di Pietro, et al. The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic. 2005 Jul;6(7):525-33. [Content Brief]

[11]. Tamio Suzuki, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar;30(3):321-4. [Content Brief]

[12]. Wei Li, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep;35(1):84-9. [Content Brief]

[13]. Y Anikster, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001 Aug;28(4):376-80. [Content Brief]

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