WAGR syndrome

GPTKB entity

Statements (52)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:bfsLayer 5
gptkbp:bfsParent gptkb:Wilms_tumor
gptkbp:advocates_for funding for research
awareness initiatives
collaboration with health organizations
legislation for rare diseases
gptkbp:associated_with gptkb:Aniridia
gptkb:Wilms_tumor
Intellectual disability
Genitourinary abnormalities
gptkbp:caused_by deletion on chromosome 11p13
gptkbp:current_use gptkb:Syndrome_of_inappropriate_antidiuretic_hormone_secretion
Other chromosomal disorders
PA X6 mutations
gptkbp:descendant autosomal dominant
gptkbp:first_described_by gptkb:1980s
gptkbp:future_plans varies by individual
increased risk of tumors
need for regular medical follow-up
potential for developmental support
gptkbp:genetic_diversity family history of the syndrome
postnatal testing options
prenatal testing options
presence of symptoms
https://www.w3.org/2000/01/rdf-schema#label WAGR syndrome
gptkbp:is_involved_in online communities
local meetups
medical professional networks
parent networks
gptkbp:is_popular_in 1 in 500,000 births
gptkbp:outcome documented in medical literature
analyzed in clinical trials
discussed in patient forums
reported in genetic registries
gptkbp:public_awareness gptkb:Educational_Institution
community outreach
fundraising efforts
support organizations
gptkbp:research_focus genetic counseling
Wilms tumor genetics
aniridia mechanisms
chromosome 11p13 deletions
gptkbp:social_responsibility genetic testing
gptkbp:symptoms developmental delays
eye abnormalities
urinary tract issues
kidney tumors
gptkbp:treatment educational support
psychological support
surgical intervention
monitoring for tumors