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GENATLAS PHENOTYPE
last update : 13-07-2016
Symbol SLS
Location 17p11.2
Name Sjögren-Larsson syndrome
Other name(s) ichthyosis, spastic neurologic disorder, and oligophrenia
Corresponding gene ALDH3A2
Main clinical features
  • ichthyosis due to inability to correctly synthesize ceramide lipids, spastic paraplegia, mental retardation and glistening and brillant dots in the fundus of the eye, with defective leukotriene B4 degradation, with arrest of myelination at MRI
  • hyperproliferation of keratinocytes via oxidative stress responses may partly contribute to the ichthyosis symptoms of SLS (PMID: 27053112))
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    neurology
    dermatology
    Type disease
    Gene product
    Name aldehyde dehydrogenase 3 family member A2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    abnormal splicing   abnormal protein/loss of function  
    various types     most mutations are private
    Remark(s) . possibility that accumulation of the S1P metabolite hexadecenal contributes to the pathogenesis of SLS (PMID: 22633490))