"Sjogren-Larsson Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D016111
|
| MeSH 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 C18.452.584.687.723 C18.452.648.398.641.723
|
| Concept/Terms |
Sjogren-Larsson Syndrome- Sjogren-Larsson Syndrome
- 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
|
Below are MeSH descriptors whose meaning is more general than "Sjogren-Larsson Syndrome".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Skin Abnormalities [C16.131.831]
- Ichthyosis [C16.131.831.512]
- Sjogren-Larsson Syndrome [C16.131.831.512.723]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sjogren-Larsson Syndrome [C16.320.565.398.641.723]
- Skin Diseases, Genetic [C16.320.850]
- Sjogren-Larsson Syndrome [C16.320.850.820]
- Infant, Newborn, Diseases [C16.614]
- Ichthyosis [C16.614.492]
- Sjogren-Larsson Syndrome [C16.614.492.723]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Keratosis [C17.800.428]
- Ichthyosis [C17.800.428.333]
- Sjogren-Larsson Syndrome [C17.800.428.333.723]
- Skin Abnormalities [C17.800.804]
- Ichthyosis [C17.800.804.512]
- Sjogren-Larsson Syndrome [C17.800.804.512.723]
- Skin Diseases, Genetic [C17.800.827]
- Sjogren-Larsson Syndrome [C17.800.827.820]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sjogren-Larsson Syndrome [C18.452.584.687.723]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sjogren-Larsson Syndrome [C18.452.648.398.641.723]
Below are MeSH descriptors whose meaning is more specific than "Sjogren-Larsson Syndrome".
This graph shows the total number of publications written about "Sjogren-Larsson Syndrome" by people in this website by year, and whether "Sjogren-Larsson Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Sjogren-Larsson Syndrome" by people in Profiles.
-
Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder. Hum Genomics. 2020 11 09; 14(1):41.
-
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. J Child Neurol. 2013 Oct; 28(10):1259-65.