KEGG   DISEASE: Sjogren-Larsson syndrome
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00162  Sjogren-Larsson syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00162  Sjogren-Larsson syndrome
Pathway
hsa00071  Fatty acid degradation
Gene
ALDH3A2; aldehyde dehydrogenase [HSA:224] [KO:K00128]
Other DBs
ICD-11: 5C52.03
ICD-10: E71.3
MeSH: D016111
OMIM: 270200
Reference
  Authors
Gordon N
  Title
Sjogren-Larsson syndrome.
  Journal
Dev Med Child Neurol 49:152-4 (2007)
DOI:10.1111/j.1469-8749.2007.00152.x
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)
DOI:10.1016/j.ymgme.2006.08.006
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)
DOI:10.1002/humu.20181
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