Alpha-1-Antitrypsin Deficiency (A1ATD)

Alpha-1-Antitrypsin Deficiency(来自ICD-11)
别称:
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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
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
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相关ID:
MESH:D019896
ICD11:824872160

基础信息

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参考文献
MALACARDS
AR
All ages
1-5/10000
32
261
277

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