Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
About the Disease
Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to pulmonary disease, chronic obstructive and pulmonary emphysema, and has symptoms including coughing, hemoptysis and snoring. An important gene associated with Alpha-1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Diseases of hemostasis and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Pharmaceutical Solutions and Dimercaprol have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and skin, and related phenotypes are emphysema and hepatic failure
Common Targets
HSD17B14 | CASP8 | Chaperone (nonspecified subtype) | GLS | Trypsin (nonspecified subtype) | UBR2 | Serine protease (nonspecified subtype) | CTSC | SERPINA1 | ERN1 | TMEM176B | G5347 | G8878 | UBR1 | ELANE

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