The term Hermansky-Pudlak Syndrome (or HPS) is used to refer to a group of related metabolic genetic disorders. At the current time 9 subtypes of HPS have been identified and these are known as HPS-1, HPS-2, etc.  Each subtype of HPS is caused by defects (or mutations) to a corresponding pair of  genes. These genes are referred to as ‘the HPS-1 genes’, ‘HPS-2 genes’, etc.  It is possible that other subtypes may be identified in the future. The term HPS will be used on this website to refer to all subtypes in general.  Particular subtypes will be referred to when necessary.

All the subtypes of HPS share common characteristics which are:

Other characteristics of Hermansky-Pudlak Syndrome include.

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An overview of Hermansky-Pudlak Syndrome