alpha-1 proteinase inhibitor deficiency
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
lungs
liver |
| gptkbp:alsoKnownAs |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:cause |
gptkb:liver_disease
emphysema chronic obstructive pulmonary disease |
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:firstDescribed |
1963
|
| https://www.w3.org/2000/01/rdf-schema#label |
alpha-1 proteinase inhibitor deficiency
|
| gptkbp:ICD-10_code |
E88.0
|
| gptkbp:inheritance |
autosomal codominant
|
| gptkbp:MeSH_ID |
D000690
|
| gptkbp:mutationAssociatedWith |
gptkb:SERPINA1_gene
|
| gptkbp:OMIM |
107400
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
early-onset emphysema
|
| gptkbp:symptom |
jaundice
shortness of breath wheezing |
| gptkbp:treatment |
lung transplantation
augmentation therapy |
| gptkbp:bfsParent |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:bfsLayer |
7
|