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Hermansky-Pudlak Syndrome Database

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INTRODUCTION

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.

INSTRUCTIONS

This HPSD is designed as a Gene-Oriented File (GOF) format. The genes included in this database are divided into five categories:

(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

To search your gene of interest, click the gene symbol listed in the following five tables or use the above SEARCH function. The human and mouse loci are in vertical pairwise alignment in the tables as this database is emphasizing these two species. You may browse other orthologs within the GOF files. We suggest you use versions of Microsoft® Internet Explorer, Mozilla® Fairfox, Maxthon® Internet Browser or Netscape® Browser which is compatible to cascade style sheet (CSS) and JavaScript to display the GOF properly.

SUBMISSION

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.

COMMENTS

We hope that this database is of interest to you. We will continue to update and expand this database in a timely manner. Your evaluation is extremely valuable to us. If you have any corrections or comments, please send email to Dr. Wei Li (wli@genetics.ac.cn).

TERMS OF USE

HPSD provides a free access to academic users. HPSD credits or links to many other sites. This database may contain some sentences from an abstract or a paper by providing a reference link to credit the authors. We do not guarantee, approve or endorse the information, data or products available at those sites. A link does not indicate any association with HPSD or endorsement of HPSD by the linked site. Linking to a third party site through HPSD may subject the user to third party's terms of use. Before using any third party site, you should review the terms and conditions governing use of that site. If you are a third party site linked by HPSD and wish to request that we no longer link to the site or your data, please contact us immediately.

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]

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PLEASE SELECT YOUR GENE OF INTEREST HERE

(1) Human and Mouse HPS

Human loci HPS1 HPS2 HPS3 HPS4 HPS5 HPS6 HPS7 HPS8 HPS9
Mouse loci Hps1ep Hps2pe Hps3coa Hps4le Hps5ru2 Hps6ru Hps7sdy Hps8rp Hps9pa

(2) Mouse HPS Only

Human loci AP3D1 RABGGTA VPS33A CNO MUTED KXD1
Mouse loci Ap3dmh Rabggtagm Vps33abf Cnocno Mutedmu Kxd1

(3) Putative Mouse or Human HPS

Human loci BLOC1S1 BLOC1S2 SNAPAP RAB38 SLC7A11 SLC35D3 DOCK7
Mouse loci Bloc1s1 Bloc1s2 Snapap Rab38cht Slc7a11sut Slc35d3ros Dock7m

(4) HPS Related Syndrome

Human loci CHS1 GS1 GS2 GS3 USH1B
Mouse loci Lystbg Myo5ad Rab27aash Mlphln Myo7ash1
Human loci PAX3 MITF SNAI2 SOX10 EDN3 EDNRB
Mouse loci Pax3Sp Mitfmi Slug Sox10Dom Edn3ls Ednrbs

(5) Non-syndromic Albinism

Human loci OCA1 OCA2 OCA3 OCA4 OCA5 OCA6
Mouse loci Tyrc Pp Tyrp1b Matpuw Oca5 Slc24a5
Human loci TYRP2 PMEL OA1 KIT KITLG
Mouse loci Tyrp2slt Pmel17si Gpr143oa1 Kitw KitlSl


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© Copyright 2005 by Dr. Wei Li's Laboratory, IGDB, CAS, Beijing, China.

visits since March 16, 2005

Last updated: June 13, 2013.