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Orphanet References OMIM Gene GeneReviews HGMD HGNC
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
    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)