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Sjogren-Larsson Syndrome

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
推出的年份: 1991
副标题
树号: C16.131.831.512.723, C16.320.565.398.641.723, C16.320.850.820, C16.614.492.723, C17.800.428.333.723, C17.800.804.512.723, C17.800.827.820, C18.452.584.563.641.723, C18.452.648.398.641.723
MeSH 单一 ID: D016111
进入的组:
  • Sjogren Larsson Syndrome
  • Fatty Aldehyde Dehydrogenase Deficiency
  • FALDH Deficiency
  • Ichthyosis Oligophrenia Syndrome
  • Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
  • Sjögren-Larsson Syndrome
  • Congenital Icthyosis Mental Retardation Spasticity Syndrome
  • Fatty Aldehyde Dehydrogenase Deficiency Disease
  • Fatty Alcohol:NAD+ Oxidoreductase Deficiency
早前的内容:
  • Ichthyosis (1966-1990)

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