Log In|Sign Up
ENAlpha-1-Antitrypsin Deficiency (A1ATD)
Alias:
Alpha 1-Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
Alpha-1-Proteinase Inhibitor Deficiency
Emphysema Due to Aat Deficiency
Alpha1-Antitrypsin Deficiency
Aat Deficiency
A1atd
Aatd
Hemorrhagic Diathesis Due to Antithrombin Pittsburgh
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Emphysema-Cirrhosis, Due to Aat Deficiency
Aatd - [alpha-1-Antitrypsin] Deficiency
Alpha-1 Protease Inhibitor Deficiency
Emphysema, Hereditary Pulmonary
Alpha-1 Antiprotease Deficiency
Hereditary Pulmonary Emphysema
Alpha-1 Related Emphysema
Inherited Emphysema
Genetic Emphysema
A1at Deficiency
Aat
Favorite
Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to pulmonary emphysema and liver disease, 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 Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Defensins. The drugs Dimercaprol and Protein C have been mentioned in the context of this disorder. Affiliated tissues include Liver and lung, and related phenotypes are emphysema and hepatic failure
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
