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GENATLAS PHENOTYPE
last update : 18-09-2009
Symbol CHS1
Location 1q42.3
Name Chediak-Higashi syndrome
Corresponding gene LYST
related resource Albinism Database
Other symbol(s) CHS
Main clinical features
  • partial oculocutaneous albinism, easy bruisability and bleeding as a result of deficient platelet dense bodies, recurrent infections with neutropenia,impaired chemotaxis and bactericidal activity and abnormal NK cell formation
  • maybe associated to peripheral neuropathy, undergoing a lymphohistiocytic infiltration, the so called accelerated phrase
  • the hallmark of the disease is the presence of giant peroxidase positive lysosomal granules in granulocytes, mouse beige homolog
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    eye
    dermatology
    Type disease
    Gene product
    Name putative regulator of lysosomal fission, cytosolic, 400kD, widely expressed
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    Remark(s)