KEGG   DISEASE: Alpha-1-antitrypsin deficiency
Entry
H01103                      Disease                                
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
Respiratory disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Lung diseases
   H01103  Alpha-1-antitrypsin deficiency
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01103  Alpha-1-antitrypsin deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C5A  Alpha-1-antitrypsin deficiency
     H01103  Alpha-1-antitrypsin deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
SERPINA1 [HSA:5265] [KO:K03984]
Env factor
Cigarette smoke
Other DBs
ICD-11: 5C5A
ICD-10: J43.9
OMIM: 613490
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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