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GENATLAS PHENOTYPE
last update : 12/06/2006
Symbol AASS
Location 7q31.3
Name familial hyperlysenemia
Corresponding gene AASS
Main clinical features associated with frequently a relative mild saccharopinuria
Genetic determination autosomal recessive
Function/system disorder metabolism/aminoacids
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
deletion   truncated protein homzygote deletion for an out-of-frame 9bp deletion in exon 15, in a consanguineous family