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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 |
|---|---|---|---|
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 6820 | SULT2B1 | sulfotransferase family 2B member 1 | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 204219 | CERS3 | ceramide synthase 3 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002313 | Spastic paraparesis |
| HP:0000483 | Astigmatism |
| HP:0003577 | Congenital onset |
| HP:0007663 | Reduced visual acuity |
| HP:0001595 | Abnormal hair morphology |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0000551 | Color vision defect |
| HP:0001597 | Abnormality of the nail |
| HP:0001371 | Flexion contracture |
