Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
autosomal recessive disease |
| gptkbp:affects |
gptkb:nervous_system
immune system |
| gptkbp:complication |
leukemia
chronic lung disease |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Denis_Burkitt
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ataxia-telangiectasia
|
| gptkbp:ICD-10_code |
G11.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:inheritanceRisk |
25% if both parents are carriers
|
| gptkbp:lifeExpectancy |
reduced
|
| gptkbp:locatedOnChromosome |
chromosome 11q22-23
|
| gptkbp:mutationAssociatedWith |
gptkb:ATM_gene
|
| gptkbp:notableFeature |
gptkb:oculomotor_apraxia
frequent infections sensitivity to ionizing radiation |
| gptkbp:OMIM |
208900
|
| gptkbp:onset |
early childhood
|
| gptkbp:otherName |
Louis-Bar syndrome
|
| gptkbp:prevalence |
1 in 40,000 to 100,000 live births
|
| gptkbp:symptom |
telangiectasia
immunodeficiency increased cancer risk ataxia |
| gptkbp:treatment |
supportive care
physical therapy immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:Inherited_Cancer_Syndromes
|
| gptkbp:bfsLayer |
7
|