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alpha 1-antitrypsin deficiency
Summary
- Synonym
-
- AAT deficiency
- Definition
- A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
- Super Class
- plasma protein metabolism disease
External Links
- Disease Ontology
- DOID:13372
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 847 | CAT | catalase | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
| 56886 | UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 | |
| 145264 | SERPINA12 | serpin family A member 12 | |
| 146183 | OTOA | otoancorin |
Related Glycoprotein
