Scheie syndrome

Summary
Synonym
  • mucopolysaccharidosis type 1S
  • mucopolysaccharidosis type IS
  • mucopolysaccharidosis type V
Definition
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
Super Class
mucopolysaccharidosis I
External Links
Disease Ontology
DOID:0060222
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
411 ARSB arylsulfatase B
847 CAT catalase
2523 FUT1 fucosyltransferase 1 (H blood group)
3425 IDUA alpha-L-iduronidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
34544 Idua alpha-L-iduronidase
The Human Phenotype Ontology
Displaying entries 31 - 35 of 35 in total
HPO ID HPO Term
HP:0012185 Constrictive median neuropathy
HP:0000943 Dysostosis multiplex
HP:0002870 Obstructive sleep apnea
HP:0000445 Wide nose
HP:0001718 Mitral stenosis
Displaying 1 entry
Gene ID Gene Symbol Description
3425 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