mucopolysaccharidosis Ih

Summary
Synonym
  • Dysostosis multiplex syndrome
  • Hurler disease MPS type 1H
  • Hurler-Pfaundler syndrome
  • L-iduronidase deficiency, Hurler type
  • MPS1-H
  • Mucopolysaccharidosis type I severe form
  • dysostosis multiplex
  • gargoylism
Definition
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
Super Class
autosomal recessive disease mucopolysaccharidosis I
External Links
Disease Ontology
DOID:0111390
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
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
The Human Phenotype Ontology
Displaying entries 71 - 80 of 98 in total
HPO ID HPO Term
HP:0001371 Flexion contracture
HP:0001387 Joint stiffness
HP:0001433 Hepatosplenomegaly
HP:0001488 Bilateral ptosis
HP:0001537 Umbilical hernia
HP:0001538 Protuberant abdomen
HP:0001653 Mitral regurgitation
HP:0001659 Aortic regurgitation
HP:0002159 Heparan sulfate excretion in urine
HP:0002180 Neurodegeneration
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