ataxia-telangiectasia syndrome
GPTKB entity
Statements (57)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
crucial
|
| gptkbp:affects |
gptkb:children
|
| gptkbp:associated_with |
increased cancer risk
immunodeficiency |
| gptkbp:cause |
ataxia
telangiectasia |
| gptkbp:chromosome_location |
11q22.3
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:clinical_use |
multidisciplinary approach
|
| gptkbp:collaborations |
international
|
| gptkbp:community_support |
essential
|
| gptkbp:condition |
gptkb:Oncology
other neurodegenerative disorders |
| gptkbp:diagnosis |
genetic testing
family history clinical evaluation clinical features |
| gptkbp:discovered_by |
Dr. Hugo W. M. van der Knaap
|
| gptkbp:educational_resources |
available
|
| gptkbp:first_described_by |
gptkb:1957
|
| gptkbp:funding |
limited
|
| gptkbp:future_prospects |
promising
|
| gptkbp:gene_involved |
gptkb:ATM_gene
|
| gptkbp:genetic_studies |
increasing
recommended ATM mutation |
| https://www.w3.org/2000/01/rdf-schema#label |
ataxia-telangiectasia syndrome
|
| gptkbp:immunological_symptoms |
recurrent infections
autoimmune disorders |
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:investigates |
funding limitations
awareness issues |
| gptkbp:is_involved_in |
A-T Society
Ataxia-Telangiectasia Children's Project |
| gptkbp:is_tested_for |
under investigation
|
| gptkbp:lifespan |
variable
|
| gptkbp:neurological_symptoms |
cognitive decline
vision problems speech difficulties |
| gptkbp:patient_population |
diverse
|
| gptkbp:prevalence |
rare
|
| gptkbp:public_awareness |
important
|
| gptkbp:research_focus |
DNA repair mechanisms
cancer predisposition neurological impact |
| gptkbp:symptom_progression |
gradual
|
| gptkbp:symptoms |
early childhood
difficulty with coordination spider veins immune system problems progressive ataxia |
| gptkbp:treatment |
physical therapy
symptomatic management immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:ATM_protein
|
| gptkbp:bfsLayer |
7
|