Mucopolysaccharidosis type VI
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease lysosomal storage disease |
| gptkbp:accumulationOf |
dermatan sulfate
|
| gptkbp:affects |
gptkb:skeletal_muscle
cardiovascular system respiratory system skeletal system ocular system |
| gptkbp:alsoKnownAs |
gptkb:Maroteaux-Lamy_syndrome
|
| gptkbp:category |
mucopolysaccharidosis
|
| gptkbp:deficiencyCauses |
gptkb:arylsulfatase_B
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux 1963 |
| 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:prevalence |
rare
|
| gptkbp:symptom |
short stature
hepatosplenomegaly joint stiffness coarse facial features corneal clouding cardiac valve disease dysostosis multiplex |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:MPS_VI
|
| gptkbp:bfsLayer |
6
|