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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 mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
| truncated protein
| homzygote deletion for an out-of-frame 9bp deletion in exon 15, in a consanguineous family
| |