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gptkbp:instanceOf
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gptkb:disease
lysosomal storage disorder
mucopolysaccharidosis
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|
gptkbp:affects
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gptkb:skeletal_muscle
skeletal system
organs
males predominantly
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|
gptkbp:alsoKnownAs
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gptkb:Hunter_syndrome
|
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gptkbp:biochemicalDefect
|
accumulation of dermatan sulfate
accumulation of heparan sulfate
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gptkbp:category
|
genetic disorder
rare disease
|
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gptkbp:causedByDeficiencyOf
|
gptkb:iduronate-2-sulfatase
|
|
gptkbp:complication
|
respiratory failure
neurological decline
cardiac failure
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
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gptkbp:differentialDiagnosis
|
gptkb:MPS_I
gptkb:MPS_VI
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gptkbp:firstDescribed
|
gptkb:Charles_Hunter
1917
|
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gptkbp:hasMildForm
|
attenuated MPS II
|
|
gptkbp:hasSevereForm
|
severe MPS II
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MPS II
|
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gptkbp:ICD-10_code
|
E76.1
|
|
gptkbp:inheritance
|
hereditary
X-linked recessive
X-linked
|
|
gptkbp:mutationAssociatedWith
|
IDS gene
|
|
gptkbp:notableFeature
|
absence of corneal clouding
|
|
gptkbp:OMIM
|
309900
|
|
gptkbp:onset
|
childhood
|
|
gptkbp:prevalence
|
1 in 100,000 to 170,000 male births
|
|
gptkbp:prognosis
|
variable
|
|
gptkbp:progression
|
progressive
|
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gptkbp:relatedTo
|
gptkb:MPS_I
gptkb:MPS_III
gptkb:MPS_VI
|
|
gptkbp:symptom
|
airway obstruction
enlarged liver
enlarged spleen
hearing loss
developmental delay
joint stiffness
cardiac disease
coarse facial features
|
|
gptkbp:treatment
|
enzyme replacement therapy
idursulfase
|
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gptkbp:bfsParent
|
gptkb:Mucopolysaccharidosis
|
|
gptkbp:bfsLayer
|
5
|