Scheie syndrome

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf gptkb:disease
lysosomal storage disorder
mucopolysaccharidosis
gptkbp:causedBy mutation in IDUA gene
gptkbp:firstDescribed gptkb:Edwin_H._Scheie
1962
https://www.w3.org/2000/01/rdf-schema#label Scheie syndrome
gptkbp:ICD-10_code E76.0
gptkbp:inheritance autosomal recessive
gptkbp:OMIM 607016
gptkbp:onset childhood
gptkbp:otherName gptkb:Mucopolysaccharidosis_type_I_S
MPS I-S
gptkbp:progression slow
gptkbp:relatedTo gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome
gptkbp:subclassOf mucopolysaccharidosis type I
gptkbp:symptom gptkb:carpal_tunnel_syndrome
short stature
hepatosplenomegaly
joint stiffness
coarse facial features
corneal clouding
aortic valve disease
gptkbp:treatment supportive care
enzyme replacement therapy
gptkbp:bfsParent gptkb:mucopolysaccharidosis_type_I_(MPS_I)
gptkbp:bfsLayer 5