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 11 - 20 of 20 in total
Gene ID Gene Symbol Description Source
4125 MAN2B1 mannosidase alpha class 2B member 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4758 NEU1 neuraminidase 1
5476 CTSA cathepsin A
6448 SGSH N-sulfoglucosamine sulfohydrolase
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
285362 SUMF1 sulfatase modifying factor 1
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