alpha-1 antitrypsin disorder
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
lungs
liver |
| gptkbp:cause |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:firstDescribed |
1963
|
| https://www.w3.org/2000/01/rdf-schema#label |
alpha-1 antitrypsin disorder
|
| gptkbp:ICD-10_code |
E88.0
|
| gptkbp:inheritance |
autosomal codominant
|
| gptkbp:MeSH_ID |
D000690
|
| gptkbp:mutationAssociatedWith |
gptkb:SERPINA1_gene
|
| gptkbp:OMIM |
613490
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:liver_disease
emphysema jaundice chronic obstructive pulmonary disease shortness of breath |
| gptkbp:treatment |
liver transplantation
lung transplantation augmentation therapy |
| gptkbp:bfsParent |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:bfsLayer |
7
|