AP3B1base: Hermansky-Pudlak syndrome 2

Version 1.0 last updated 16 June, 2011 contains 11 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the AP3B1base :

Defects in ADTB3A are the cause of Hermansky-Pudlak syndrome type 2 (HPS2). HPS is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: AP3B1base