Birt-Hogg-Dubé syndrome

GPTKB entity

Statements (54)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:bfsLayer 6
gptkbp:bfsParent gptkb:Von_Hippel-Lindau_syndrome
gptkbp:affects both genders
gptkbp:associated_with gptkb:healthcare_organization
gptkb:municipality
gptkb:academic_journal
patient education
case studies
patient outcomes
risk assessment
genetic research
genetic predisposition
psychosocial support
family planning
multidisciplinary approach
patient support groups
pneumothorax
clinical management
neoplasms
long-term follow-up
tumor suppressor gene
renal tumors
surveillance strategies
Birt-Hogg-Dubé syndrome-associated tumors
FLCN mutations
chromosome 17p11.2
cutaneous manifestations
cutaneous tumors
genetic testing availability
lung cysts
multiple cysts
pulmonary cysts
spontaneous pneumothorax
gptkbp:caused_by skin tumors
gptkbp:clinical_trial gptkb:stock_market_index
gptkbp:current_use hereditary leiomyomatosis and renal cell cancer
gptkbp:descendant autosomal dominant
gptkbp:discovered_by Birt, Hogg, and Dubé
gptkbp:first_described_by in 1977
gptkbp:genetic_diversity recommended
https://www.w3.org/2000/01/rdf-schema#label Birt-Hogg-Dubé syndrome
gptkbp:is_popular_in rare
gptkbp:promoter FLCN
gptkbp:research ongoing
gptkbp:risk_factor family history
mutation in FLCN gene
gptkbp:social_responsibility genetic testing
clinical evaluation
gptkbp:symptoms lipomas
fibrofolliculomas
trichodiscomas
gptkbp:treatment surgical removal of tumors
monitoring for kidney cancer