| H01103 | |
| H number | H01103 |
| Name | Alpha-1-antitrypsin deficiency |
| Description | Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is the archetype of the serine protease inhibitor. Mutations in the A1AT gene lead to misfolding of the protein and accumulation within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT results in protease-antiprotease imbalance at the lung surface and emphysema ensues. |
| Category | Inherited metabolic disorder |
| Network | nt06514(H01103) Coagulation cascade |
| Gene | SERPINA1 [HSA:5265] [KO:K03984] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C5A ICD-10: J43.9 OMIM: 613490 |
| Reference | PMID:18193338 AUTHORS Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG TITLE Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations. JOURNAL J Inherit Metab Dis 31:21-34 (2008) DOI:10.1007/s10545-007-0748-y PMID:17562108 AUTHORS Mulgrew AT, Taggart CC, McElvaney NG TITLE Alpha-1-antitrypsin deficiency: current concepts. JOURNAL Lung 185:191-201 (2007) DOI:10.1007/s00408-007-9009-y PMID:15187777 AUTHORS Teckman JH TITLE Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study. JOURNAL J Pediatr Gastroenterol Nutr 39:34-7 (2004) DOI:10.1097/00005176-200407000-00007 PMID:22245800 AUTHORS Lockett AD, Van Demark M, Gu Y, Schweitzer KS, Sigua N, Kamocki K, Fijalkowska I, Garrison J, Fisher AJ, Serban K, Wise RA, Flotte TR, Mueller C, Presson RG Jr, Petrache HI, Tuder RM, Petrache I TITLE Effect of cigarette smoke exposure and structural modifications on the alpha-1 Antitrypsin interaction with caspases. JOURNAL Mol Med 18:445-54 (2012) DOI:10.2119/molmed.2011.00207 |