Hurler-Scheie syndrome

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf rare disease
lysosomal storage disease
mucopolysaccharidosis
gptkbp:category genetic disorder
metabolic disorder
gptkbp:causedBy mutation in IDUA gene
gptkbp:differentialDiagnosis gptkb:Hurler_syndrome
gptkb:Scheie_syndrome
gptkbp:frequency very rare
https://www.w3.org/2000/01/rdf-schema#label Hurler-Scheie syndrome
gptkbp:ICD-10_code E76.0
gptkbp:inheritance autosomal recessive
gptkbp:namedAfter gptkb:Gertrude_Hurler
gptkb:Harold_Scheie
gptkbp:OMIM 607015
gptkbp:onset childhood
gptkbp:subclassOf mucopolysaccharidosis type I
gptkbp:symptom short stature
hearing loss
hepatosplenomegaly
joint stiffness
coarse facial features
corneal clouding
cardiac abnormalities
gptkbp:treatment enzyme replacement therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:mucopolysaccharidosis_type_I_(MPS_I)
gptkbp:bfsLayer 5