alpha-1 antitrypsin deficiency

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease genetic disorder
gptkbp:abbreviation	gptkb:AATD
gptkbp:affectsOrgan	gptkb:skin lungs liver
gptkbp:cause	gptkb:liver_disease cirrhosis emphysema chronic obstructive pulmonary disease hepatocellular carcinoma
gptkbp:diagnosedBy	genetic testing serum alpha-1 antitrypsin level
gptkbp:firstDescribed	1963
gptkbp:frequency	rare
gptkbp:hasOrphanetID	60
https://www.w3.org/2000/01/rdf-schema#label	alpha-1 antitrypsin deficiency
gptkbp:ICD-10_code	E88.0
gptkbp:inheritance	autosomal codominant codominant
gptkbp:MeSH_ID	D000690
gptkbp:mutationAssociatedWith	gptkb:SERPINA1_gene
gptkbp:namedAfter	gptkb:alpha-1_antitrypsin
gptkbp:OMIM	107400
gptkbp:prevalence	1 in 2,500 to 1 in 5,000 in people of European descent
gptkbp:riskFactor	smoking
gptkbp:symptom	fatigue jaundice shortness of breath unexplained weight loss wheezing recurrent respiratory infections
gptkbp:synonym	gptkb:A1AD gptkb:alpha-1_antitrypsin_disorder gptkb:alpha-1_proteinase_inhibitor_deficiency
gptkbp:treatment	liver transplantation lung transplantation corticosteroids smoking cessation bronchodilators augmentation therapy
gptkbp:bfsParent	gptkb:COPD
gptkbp:bfsLayer	6