Mucopolysaccharidosis type I S

GPTKB entity

Statements (19)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:alsoKnownAs gptkb:Scheie_syndrome
gptkbp:characterizedBy deficiency of alpha-L-iduronidase
gptkbp:firstDescribed gptkb:Harold_G._Scheie
https://www.w3.org/2000/01/rdf-schema#label Mucopolysaccharidosis type I S
gptkbp:ICD-10_code E76.0
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:IDUA_gene
gptkbp:OMIM 607016
gptkbp:onset childhood
gptkbp:partOf gptkb:Mucopolysaccharidosis_type_I_spectrum
gptkbp:symptom joint stiffness
corneal clouding
cardiac involvement
mild skeletal abnormalities
gptkbp:treatment enzyme replacement therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:Scheie_syndrome
gptkbp:bfsLayer 6