mucopolysaccharidosis type I (MPS I)

URI: https://gptkb.org/entity/mucopolysaccharidosis_type_I_(MPS_I)
GPTKB entity
Statements (31)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:lysosomal_storage_disorder
gptkbp:accumulationOf dermatan sulfate
glycosaminoglycans
heparan sulfate
gptkbp:deficiencyCauses gptkb:alpha-L-iduronidase
gptkbp:diagnosedBy genetic testing
enzyme assay
urinary glycosaminoglycan analysis
gptkbp:firstDescribed 1919
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 gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:Sigilon_Therapeutics
gptkbp:bfsLayer 4
https://www.w3.org/2000/01/rdf-schema#label mucopolysaccharidosis type I (MPS I)