mucopolysaccharidosis Ih/s

Summary
Synonym
  • MPS1H/S
  • MPSIH/S
  • Mucopolysaccharidosis type 1H/S
Definition
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction 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:0111389
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
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
34544 Idua alpha-L-iduronidase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0002240 Hepatomegaly
HP:0100765 Abnormality of the tonsils
HP:0001638 Cardiomyopathy
HP:0004322 Short stature
HP:0000407 Sensorineural hearing impairment
HP:0003416 Spinal canal stenosis
HP:0007957 Corneal opacity
HP:0001744 Splenomegaly
HP:0000280 Coarse facial features
HP:0003468 Abnormal vertebral morphology
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