Hermansky-Pudlak Syndrome (HPS;OMIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis in some cases due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules. This HPS database (HPSD) is to provide integrated, annotatory, and curative data distributed in a variety of public databases or predicted by bioinformatics tools for the recently cloned human and mouse HPS genes, as well as the genes responsible for HPS related syndrome, such as Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Usher syndrome type 1B (USH1B), and Waardenburg syndrome (WS). To compare with the above mentioned syndromic albinism genes, non-syndromic albinism genes including oculocutaneous albinism (OCA), ocular albinism (OA), and piebaldism are also included in this database. This database is a shortcut to utilize the web-based information for the emerging interdisciplinary studies of HPS and hypopigmentation. Patients with these disorders may also find useful information here to better understand their conditions.
This HPSD is designed as a Gene-Oriented
File (GOF) format. The genes included in this database are divided into five
(1) Human and Mouse HPS, in which mutations have been identified in both human and mouse loci.
(2) Mouse HPS Only, in which only mutations in the mouse HPS genes have been identified so far.
(3) Putative Mouse or Human HPS, including three genes encoding subunits (blos1, blos2, and snapin) of BLOC-1 that are suggestive to cause HPS if mutated, and the Rab38 gene that causes HPS in rats. The Slc7a11 gene mutation causes a mild form of HPS in the subtle gray mice. The Slc35d3 gene mutation causes platelet dense granule defects similar to HPS. The Dock7 gene mutation causes a mild form of HPS in the misty mice.
(4) HPS Related Syndrome, as described above.
(5) Non-syndromic Albinism, as described above
HPSD is featured with online submision of your mutation data. You are welcome to submit your published or unpublished mutation data to HPSD simply by filling out the required fields within the online submission sheet.
If you refer this HPSD in a publication, please use the following citation:
Li W, He M, Zhou H, Bourne JW, Liang P. Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. Hum Mutat, 2006; 27: 402-407. [Abstract] [PDF]