Mucopolysaccharidosis type I spectrum
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:characterizedBy |
deficiency of alpha-L-iduronidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:hasOrphanetID |
ORPHA:558
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type I spectrum
|
| gptkbp:includes |
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome gptkb:Scheie_syndrome |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IDUA_gene
|
| gptkbp:OMIM |
607014
|
| gptkbp:symptom |
hepatosplenomegaly
developmental delay joint stiffness cardiac disease coarse facial features corneal clouding skeletal abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis_type_I_S
|
| gptkbp:bfsLayer |
7
|