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GENATLAS PHENOTYPE

last update : 10/07/2006

Symbol	HPS4
Location	22q12.1
Name	Hermansky-Pudlak syndrome 4
Corresponding gene	HPS4
Main clinical features	oculocutaneous albinism and bleeding attributable to storage-pool-deficient platelets
Genetic determination	autosomal recessive
Function/system disorder	eye
	dermatology
Type	disease

Gene product

Name	Hermansky-Pudlak syndrome 4 gene

Remark(s)

mutations leading to defective vesicular biogenesis or trafficking that affect lysosomes, lysosome-related organelles (for example melanosomes and platelet dense granules)