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
External Links
Disease Ontology
DOID:12802
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
411 ARSB arylsulfatase B
847 CAT catalase
2517 FUCA1 alpha-L-fucosidase 1
2523 FUT1 fucosyltransferase 1 (H blood group)
2720 GLB1 galactosidase beta 1
2799 GNS glucosamine (N-acetyl)-6-sulfatase
2990 GUSB glucuronidase beta
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
34544 Idua alpha-L-iduronidase

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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: August 19, 2024