mucopolysaccharidosis I

Summary
Synonym
  • Hurler syndrome
  • Hurler-Scheie syndrome
  • Lipochondrodystrophy
  • MPS I - Hurler syndrome
  • Mucopolysaccharidosis, MPS-I
  • Mucopolysaccharidosis, type 1
  • iduronidase deficiency disease
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Super Class
mucopolysaccharidosis
Disease Ontology
DOID:12802
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3425 IDUA alpha-L-iduronidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
15932 Idua iduronidase, alpha-L
Displaying 1 entry
Gene ID Gene Symbol Description Source
34544 Idua alpha-L-iduronidase
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024