H00162 | |
H number | H00162 |
Name | Sjogren-Larsson syndrome |
Description | Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis. |
Category | Inherited metabolic disorder |
Network | - |
Gene | ALDH3A2 [HSA:224] [KO:K00128] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C52.03 ICD-10: E71.3 MeSH: D016111 OMIM: 270200 |
Reference | PMID:17254005 AUTHORS Gordon N TITLE Sjogren-Larsson syndrome. JOURNAL Dev Med Child Neurol 49:152-4 (2007) DOI:10.1111/j.1469-8749.2007.00152.x PMID:16996289 AUTHORS Rizzo WB TITLE Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. JOURNAL Mol Genet Metab 90:1-9 (2007) DOI:10.1016/j.ymgme.2006.08.006 PMID:15931689 AUTHORS Rizzo WB, Carney G TITLE Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). JOURNAL Hum Mutat 26:1-10 (2005) DOI:10.1002/humu.20181 |