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GENATLAS PHENOTYPE
last update : 8/09/2006
Symbol SBHD
Location 19q13.32
Name sea-blue histiocyte disease
Corresponding gene APOE
Main clinical features splenomegaly, thrombocytopenia, hypertriglyceridemia
Genetic determination autosomal dominant
Function/system disorder hematology
Type disease
Gene product
Name apolipoprotein E
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
deletion     Leu149del mutation
Remark(s)