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
Displaying entries 11 - 17 of 17 in total
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
The Human Phenotype Ontology
Displaying entries 21 - 30 of 42 in total
HPO ID HPO Term
HP:0002167 Abnormality of speech or vocalization
HP:0100533 Inflammatory abnormality of the eye
HP:0001264 Spastic diplegia
HP:0000958 Dry skin
HP:0007440 Generalized hyperpigmentation
HP:0000545 Myopia
HP:0002652 Skeletal dysplasia
HP:0001250 Seizure
HP:0006297 Enamel hypoplasia
HP:0007727 Opacification of the corneal epithelium
Displaying 1 entry
Gene ID Gene Symbol Description
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2

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Last updated: August 19, 2024