|
gptkbp:instanceOf
|
gptkb:autosomal_recessive_disease
gptkb:rare_disease
|
|
gptkbp:affects
|
gptkb:nervous_system
immune system
|
|
gptkbp:complication
|
gptkb:leukemia
chronic lung disease
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Denis_Burkitt
|
|
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
|
gptkb:immunodeficiency
telangiectasia
increased cancer risk
ataxia
|
|
gptkbp:treatment
|
supportive care
physical therapy
immunoglobulin replacement therapy
|
|
gptkbp:bfsParent
|
gptkb:Inherited_Cancer_Syndromes
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Ataxia-telangiectasia
|