ZFIN Human Disease: Sjogren-Larsson syndrome

OBO ID: DOID:14501

Term Name:	Sjogren-Larsson syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Sjogren-Larsson syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALDH3A2	aldh3a2b aldh3a2a	Sjogren-Larsson syndrome	270200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None