|
gptkbp:instanceOf
|
genetic disorder
lysosomal storage disease
|
|
gptkbp:accumulationOf
|
dermatan sulfate
heparan sulfate
|
|
gptkbp:affects
|
children
|
|
gptkbp:deficiencyCauses
|
gptkb:alpha-L-iduronidase
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:firstDescribed
|
1919
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Mucopolysaccharidosis I
|
|
gptkbp:ICD-10_code
|
E76.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D009081
|
|
gptkbp:mutationAssociatedWith
|
gptkb:IDUA_gene
|
|
gptkbp:namedAfter
|
gptkb:Gertrud_Hurler
|
|
gptkbp:OMIM
|
252800
|
|
gptkbp:otherName
|
gptkb:MPS_I
|
|
gptkbp:prevalence
|
1 in 100,000 births
|
|
gptkbp:prognosis
|
variable
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:subspecies
|
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome
gptkb:Scheie_syndrome
|
|
gptkbp:symptom
|
short stature
hearing loss
hepatosplenomegaly
developmental delay
joint stiffness
cardiac disease
coarse facial features
corneal clouding
skeletal abnormalities
recurrent respiratory infections
umbilical hernia
|
|
gptkbp:treatment
|
enzyme replacement therapy
hematopoietic stem cell transplantation
|
|
gptkbp:bfsParent
|
gptkb:Aldurazyme
|
|
gptkbp:bfsLayer
|
7
|