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GENATLAS PHENOTYPE

last update : 10/12/2008

Symbol	HPS7
Location	6p22.3
Name	Hermansky-Pudlak syndrome 7
Corresponding gene	DTNBP1
Main clinical features	disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles : melanosomes, platelet-dense granules, and lysosomes
Genetic determination	autosomal recessive
Function/system disorder	hematology
	eye
	dermatology
Type	disease

Gene product

Name	dystrobrevin binding protein 1

Remark(s)

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