Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:affects |
lungs
liver pancreas reproductive organs intestines sinuses |
| gptkbp:causedBy |
mutations in CFTR gene
|
| gptkbp:complication |
gptkb:liver_disease
gptkb:pneumonia gptkb:bone gptkb:bronchiectasis gptkb:diabetes_mellitus malnutrition respiratory failure infertility |
| gptkbp:diagnosedBy |
gptkb:sweat_test
genetic testing |
| gptkbp:firstDescribed |
gptkb:Dorothy_Andersen
1938 |
| gptkbp:frequency |
about 1 in 2,500 to 3,500 newborns in the US
|
| gptkbp:hasCarrierFrequency |
about 1 in 25 among people of European descent
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cystic fibrosis
|
| gptkbp:ICD-10_code |
E84
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
median survival into 40s or 50s (developed countries)
|
| gptkbp:MeSH_ID |
D003550
|
| gptkbp:mostCommonMutation |
gptkb:ΔF508
|
| gptkbp:mutationAssociatedWith |
gptkb:CFTR_gene
|
| gptkbp:namedAfter |
cystic changes and fibrosis in pancreas
|
| gptkbp:OMIM |
219700
|
| gptkbp:prevalence |
most common in people of Northern European descent
|
| gptkbp:researchInterest |
gene therapy
CFTR modulator drugs |
| gptkbp:screenedAt |
newborn screening programs
|
| gptkbp:symptom |
shortness of breath
chronic cough digestive problems lung infections poor growth salty-tasting skin |
| gptkbp:treatment |
gptkb:CFTR_modulators
antibiotics lung transplantation chest physiotherapy mucolytics pancreatic enzyme replacement |
| gptkbp:bfsParent |
gptkb:Ashkenazi_Jews
|
| gptkbp:bfsLayer |
4
|