xeroderma pigmentosum

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:bfsLayer 4
gptkbp:bfsParent gptkb:TFIIH
gptkbp:affects gptkb:skincare_product
gptkbp:associated_with pigmented lesions
cataracts
photosensitivity
XP genes
premature aging of the skin
xerosis
gptkbp:caused_by defects in DNA repair mechanisms
gptkbp:descendant autosomal recessive
gptkbp:first_described_by in 1968
https://www.w3.org/2000/01/rdf-schema#label xeroderma pigmentosum
gptkbp:is_popular_in 1 in 250,000 people
gptkbp:public_awareness increased public awareness needed
gptkbp:research ongoing studies on gene therapy
investigations into new treatments
studies on skin cancer prevention
understanding of DNA repair mechanisms
gptkbp:risk_factor family history
UV exposure
gptkbp:social_responsibility genetic testing
clinical evaluation
gptkbp:supports advocacy for research funding
educational resources for families
patient support groups available
gptkbp:symptoms gptkb:healthcare_organization
neurological issues
eye problems
extreme sensitivity to ultraviolet light
freckling of the skin
gptkbp:treatment psychological support
sun protection
topical retinoids
chemotherapy for skin cancers
immunotherapy for skin cancers
radiation therapy for skin cancers
regular skin examinations
surgical removal of skin cancers
vitamin D supplementation
gptkbp:type gptkb:XP-A
XP-B
XP-C
XP-D
XP-E
XP-F
XP-G
XP-H