"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 |
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Below are the most recent publications written about "Sjogren-Larsson Syndrome" by people in Profiles.
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Krupenko NI, Sharma J, Pediaditakis P, Helke KL, Hall MS, Du X, Sumner S, Krupenko SA. 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.
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Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB. Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. J Child Neurol. 2013 Oct; 28(10):1259-65.