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Mucopolysaccharidosis type I
URI:
https://gptkb.org/entity/Mucopolysaccharidosis_type_I
GPTKB entity
Statements (35)
Predicate
Object
gptkbp:instanceOf
genetic disorder
lysosomal storage disease
gptkbp:accumulationOf
dermatan sulfate
glycosaminoglycans
heparan sulfate
gptkbp:affects
adults
children
gptkbp:deficiencyCauses
gptkb:alpha-L-iduronidase
gptkbp:diagnosedBy
genetic testing
enzyme assay
gptkbp:firstDescribed
1919
gptkbp:hasOrphanetID
ORPHA:558
https://www.w3.org/2000/01/rdf-schema#label
Mucopolysaccharidosis type I
gptkbp:ICD-10_code
E76.0
gptkbp:inheritance
autosomal recessive
gptkbp:mutationAssociatedWith
gptkb:IDUA_gene
gptkbp:namedAfter
gptkb:Gertrud_Hurler
gptkbp:OMIM
607014
gptkbp:prevalence
1 in 100,000 births
gptkbp:subspecies
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome
gptkb:Scheie_syndrome
gptkbp:symptom
hepatosplenomegaly
developmental delay
joint stiffness
cardiac disease
coarse facial features
corneal clouding
skeletal abnormalities
gptkbp:treatment
enzyme replacement therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent
gptkb:Hurler_syndrome
gptkb:IDUA_gene
gptkb:MPS_I
gptkbp:bfsLayer
6