AATD

GPTKB entity

Statements (24)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:abbreviation gptkb:A1AD
Alpha-1
gptkbp:affects lungs
liver
gptkbp:causedBy mutation in SERPINA1 gene
gptkbp:diagnosedBy blood test
genetic testing
https://www.w3.org/2000/01/rdf-schema#label AATD
gptkbp:inheritsFrom autosomal codominant
gptkbp:MeSH_ID D000707
gptkbp:OMIM 107400
gptkbp:prevalence rare
gptkbp:riskFactor smoking
gptkbp:standsFor Alpha-1 Antitrypsin Deficiency
gptkbp:symptom gptkb:liver_disease
emphysema
shortness of breath
gptkbp:treatment liver transplantation
lung transplantation
augmentation therapy
gptkbp:bfsParent gptkb:Redbird_FMX
gptkb:alpha-1_antitrypsin_deficiency
gptkbp:bfsLayer 7