| H00930 | |
| H number | H00930 |
| Name | Hypoalphalipoproteinemia |
| Description | Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Tangier disease [DS:H00159] is also caused by mutations of ABCA1. |
| Other DBs | ICD-11: 5C81.0 ICD-10: E78.6 MeSH: D052456 OMIM: 604091 618463 |
| Reference | PMID:15841208 (ABCA1) AUTHORS Timmins JM, Lee JY, Boudyguina E, Kluckman KD, Brunham LR, Mulya A, Gebre AK, Coutinho JM, Colvin PL, Smith TL, Hayden MR, Maeda N, Parks JS TITLE Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. JOURNAL J Clin Invest 115:1333-42 (2005) DOI:10.1172/JCI23915 PMID:10998475 (ABCA1) AUTHORS Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr TITLE Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. JOURNAL Atherosclerosis 152:457-68 (2000) DOI:10.1016/S0021-9150(99)00498-0 PMID:17991432 (APOA1) AUTHORS Esperon P, Raggio V, Stoll M, Vital M, Alallon W TITLE A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease. JOURNAL Clin Chim Acta 388:222-4 (2008) DOI:10.1016/j.cca.2007.10.015 |