Mucopolysaccharidosis type II

URI: https://gptkb.org/entity/Mucopolysaccharidosis_type_II
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
lysosomal storage disease
gptkbp:affects males predominantly
gptkbp:alsoKnownAs gptkb:Hunter_syndrome
gptkbp:category gptkb:Mucopolysaccharidosis
gptkbp:complication neurological decline
cardiorespiratory failure
gptkbp:deficiencyCauses gptkb:iduronate-2-sulfatase
gptkbp:diagnosedBy genetic testing
enzyme assay
gptkbp:firstDescribed gptkb:Charles_Hunter
1917
https://www.w3.org/2000/01/rdf-schema#label Mucopolysaccharidosis type II
gptkbp:ICD-10_code E76.1
gptkbp:inheritance X-linked recessive
gptkbp:mutationAssociatedWith IDS gene
gptkbp:OMIM 309900
gptkbp:onset childhood
gptkbp:prevalence 1 in 100,000 to 1 in 170,000 male births
gptkbp:progression variable
gptkbp:symptom airway obstruction
hearing loss
hepatosplenomegaly
developmental delay
joint stiffness
cardiac disease
coarse facial features
gptkbp:treatment supportive care
enzyme replacement therapy
gptkbp:bfsParent gptkb:iduronate-2-sulfatase
gptkb:IDUR
gptkbp:bfsLayer 7