|
gptkbp:instanceOf
|
gptkb:lysosomal_storage_disorder
gptkb:mucopolysaccharidosis
gptkb:rare_disease
|
|
gptkbp:accumulationOf
|
dermatan sulfate
heparan sulfate
|
|
gptkbp:affects
|
mainly males
|
|
gptkbp:alsoKnownAs
|
gptkb:MPS_II
|
|
gptkbp:category
|
gptkb:genetic_disorder
gptkb:metabolic_disorder
|
|
gptkbp:causedBy
|
mutation in IDS gene
|
|
gptkbp:complication
|
respiratory failure
neurological decline
cardiac failure
|
|
gptkbp:deficiencyCauses
|
gptkb:iduronate-2-sulfatase
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:firstDescribed
|
gptkb:Charles_Hunter
1917
|
|
gptkbp:hasOrphanetID
|
ORPHA:580
|
|
gptkbp:ICD-10_code
|
E76.1
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:lifeExpectancy
|
reduced
|
|
gptkbp:notableCase
|
Charles Hunter's original patients
|
|
gptkbp:OMIM
|
309900
|
|
gptkbp:prevalence
|
1 in 100,000 to 170,000 male births
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:subspecies
|
mild form
severe form
|
|
gptkbp:symptom
|
airway obstruction
short stature
hearing loss
developmental delay
joint stiffness
cardiac disease
coarse facial features
inguinal hernia
umbilical hernia
enlarged liver and spleen
|
|
gptkbp:treatment
|
gptkb:enzyme_replacement_therapy
supportive care
hematopoietic stem cell transplantation
|
|
gptkbp:bfsParent
|
gptkb:Xq28
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Hunter syndrome
|