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.
Year introduced: 1991
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Subheadings:
Tree Number(s): 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 Unique ID: D016111
Entry Terms:
- Sjogren Larsson Syndrome
- Fatty Aldehyde Dehydrogenase Deficiency Disease
- Fatty Aldehyde Dehydrogenase Deficiency
- FALDH Deficiency
- Fatty Alcohol:NAD+ Oxidoreductase Deficiency
- Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
- Sjögren-Larsson Syndrome
- Congenital Icthyosis Mental Retardation Spasticity Syndrome
- Ichthyosis Oligophrenia Syndrome
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