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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Sjogren-Larsson syndrome
Summary
- Synonym
-
- FALDH deficiency
- SLS
- Sjogren Larsson syndrome
- Sjogren-Larsson's syndrome
- fatty acid alcohol oxidoreductase deficiency
- Definition
- A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:14501
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 128 | ADH5 | alcohol dehydrogenase 5 (class III), chi polypeptide | |
| 218 | ALDH3A1 | aldehyde dehydrogenase 3 family member A1 | |
| 221 | ALDH3B1 | aldehyde dehydrogenase 3 family member B1 | |
| 222 | ALDH3B2 | aldehyde dehydrogenase 3 family member B2 | |
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
| 412 | STS | steroid sulfatase | |
| 2181 | ACSL3 | acyl-CoA synthetase long chain family member 3 | |
| 2182 | ACSL4 | acyl-CoA synthetase long chain family member 4 | |
| 2629 | GBA1 | glucosylceramidase beta 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZR5 | Very long chain fatty acid elongase 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001387 | Joint stiffness |
| HP:0000962 | Hyperkeratosis |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000608 | Macular degeneration |
| HP:0002808 | Kyphosis |
| HP:0200020 | Corneal erosion |
| HP:0001252 | Hypotonia |
| HP:0000488 | Retinopathy |
| HP:0001260 | Dysarthria |
| HP:0007256 | Abnormal pyramidal sign |
