KEGG   DISEASE: H00162Help
Entry
H00162                      Disease                                

Name
Sjogren-Larsson syndrome
Description
Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis.
Category
Inherited metabolic disease; Skin and connective tissue disease
BRITE hierarchy
Pathway
Fatty acid metabolism
Gene
ALDH3A2; aldehyde dehydrogenase [HSA:224] [KO:K00128]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Gordon N
  Title
Sjogren-Larsson syndrome.
  Journal
Dev Med Child Neurol 49:152-4 (2007)
Reference
  Authors
Rizzo WB
  Title
Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
  Journal
Mol Genet Metab 90:1-9 (2007)
Reference
  Authors
Rizzo WB, Carney G
  Title
Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
  Journal
Hum Mutat 26:1-10 (2005)

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