mucopolysaccharidosis type VI
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:alsoKnownAs |
gptkb:Maroteaux-Lamy_syndrome
|
| gptkbp:characterizedBy |
accumulation of dermatan sulfate
deficiency of arylsulfatase B |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux |
| https://www.w3.org/2000/01/rdf-schema#label |
mucopolysaccharidosis type VI
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ARSB_gene
|
| gptkbp:OMIM |
253200
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
short stature
hepatosplenomegaly joint stiffness cardiac disease coarse facial features corneal clouding skeletal abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:arylsulfatase_B
|
| gptkbp:bfsLayer |
8
|