Sjogren-Larsson syndrome

Term ID

DOID:14501

Synonyms

• FALDH deficiency
• fatty acid alcohol oxidoreductase deficiency
• Sjogren Larsson syndrome
• Sjogren-Larsson's syndrome
• SLS

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. (2)

References

• GARD:7654
• MESH:D016111
• NCI:C85070
• OMIM:270200
• ORDO:816
• SNOMEDCT_US_2023_03_01:111303009
• UMLS_CUI:C0037231

Ontology

Human Disease   ( DOID:14501 )