mucopolysaccharidosis type I (MPS I)
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disorder |
| gptkbp:accumulationOf |
dermatan sulfate
glycosaminoglycans heparan sulfate |
| gptkbp:deficiencyCauses |
gptkb:alpha-L-iduronidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay urinary glycosaminoglycan analysis |
| gptkbp:firstDescribed |
1919
|
| https://www.w3.org/2000/01/rdf-schema#label |
mucopolysaccharidosis type I (MPS I)
|
| gptkbp:ICD-10_code |
E76.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IDUA_gene
|
| gptkbp:namedAfter |
gptkb:Gertrud_Hurler
|
| gptkbp:OMIM |
607014
|
| gptkbp:prevalence |
1 in 100,000 births
|
| gptkbp:subspecies |
gptkb:Hurler-Scheie_syndrome
gptkb:Hurler_syndrome gptkb:Scheie_syndrome |
| 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:Sigilon_Therapeutics
|
| gptkbp:bfsLayer |
4
|