| H00158 | |
| H number | H00158 |
| Name | Lecithin:cholesterol acyltransferase deficiency; Norum disease; Fish-eye disease |
| Description | Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | LCAT [HSA:3931] [KO:K00650] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C81.Y ICD-10: E78.6 MeSH: D007863 OMIM: 245900 136120 |
| Reference | PMID:16709953 AUTHORS Berglund L TITLE Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms. JOURNAL Arterioscler Thromb Vasc Biol 26:1201-3 (2006) DOI:10.1161/01.ATV.0000217281.06795.61 PMID:16543491 AUTHORS Nishiwaki M, Ikewaki K, Bader G, Nazih H, Hannuksela M, Remaley AT, Shamburek RD, Brewer HB Jr TITLE Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X. JOURNAL Arterioscler Thromb Vasc Biol 26:1370-5 (2006) DOI:10.1161/01.ATV.0000217910.90210.99 PMID:9162740 AUTHORS Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J TITLE The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. JOURNAL J Lipid Res 38:191-205 (1997) |