Hunter syndrome

GPTKB entity

Properties (46)
Predicate Object
gptkbp:instanceOf gptkb:physicist
gptkbp:ageLimit 2 to 4 years
gptkbp:associatedWith vision problems
intellectual disability
skin lesions
respiratory issues
skeletal abnormalities
gptkbp:causedBy deficiency of iduronate-2-sulfatase
gptkbp:clinicalTrials ongoing research for new treatments
gptkbp:demographics 1 in 100,000 males
gptkbp:diseaseResistance genetic testing
enzyme assay
gptkbp:geneticDiversity Xq28
https://www.w3.org/2000/01/rdf-schema#label Hunter syndrome
gptkbp:impact symptomatic treatment
enzyme replacement therapy
gptkbp:introduced gptkb:Dr._Charles_Hunter
gptkbp:legalEvent varies widely
gptkbp:nobleFamily X-linked recessive
gptkbp:providesServices gptkb:National_MPS_Society
gptkb:Hunter_Syndrome_Foundation
gptkbp:relatedPatent gptkb:pulmonary_hypertension
chronic pain
infections
sleep apnea
gastrointestinal issues
dental problems
neurological decline
hepatosplenomegaly
Mucopolysaccharidosis II
cardiac disease
orthopedic issues
gptkbp:researchFocus gene therapy
symptom management
new enzyme therapies
gptkbp:riskManagement family history
male sex
gptkbp:symptoms hearing loss
behavioral issues
enlarged liver
enlarged spleen
cardiovascular problems
joint stiffness
coarse facial features
developmental delay
gptkbp:type metabolic disorder