|
gptkbp:instanceOf
|
rare disease
lysosomal storage disease
|
|
gptkbp:affects
|
adults
children
|
|
gptkbp:alsoKnownAs
|
gptkb:Maroteaux-Lamy_syndrome
|
|
gptkbp:category
|
mucopolysaccharidosis
inborn error of metabolism
|
|
gptkbp:deficiencyCauses
|
arylsulfatase B enzyme
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:firstDescribed
|
gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux
1963
|
|
gptkbp:fullName
|
gptkb:Mucopolysaccharidosis_type_VI
|
|
gptkbp:hasOrphanetID
|
ORPHA:582
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MPS VI
|
|
gptkbp:ICD-10_code
|
E76.2
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ARSB_gene
|
|
gptkbp:OMIM
|
253200
|
|
gptkbp:prevalence
|
1 in 250,000 to 600,000 live births
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:symptom
|
short stature
hepatosplenomegaly
joint stiffness
coarse facial features
corneal clouding
skeletal abnormalities
cardiac abnormalities
|
|
gptkbp:treatment
|
enzyme replacement therapy
hematopoietic stem cell transplantation
|
|
gptkbp:bfsParent
|
gptkb:Mucopolysaccharidosis
|
|
gptkbp:bfsLayer
|
5
|