mucopolysaccharidosis II

Summary
Synonym
  • Hunter syndrome
  • Hunter's syndrome
  • MPS II - Hunter syndrome
  • Mucopolysaccharidosis, MPS-II
  • deficiency of iduronate-2-sulphatase
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Super Class
mucopolysaccharidosis
External Links
Disease Ontology
DOID:12799
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 40 in total
Gene ID Gene Symbol Description Source
8692 HYAL2 hyaluronidase 2
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10724 OGA O-GlcNAcase
22901 ARSG arylsulfatase G
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
159371 SLC35G1 solute carrier family 35 member G1
285362 SUMF1 sulfatase modifying factor 1
347527 ARSH arylsulfatase family member H
The Human Phenotype Ontology
Displaying entries 1 - 10 of 109 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000158 Macroglossia
HP:0000212 Gingival overgrowth
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000293 Full cheeks
HP:0000336 Prominent supraorbital ridges
HP:0000362 Otosclerosis
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
3423 IDS iduronate 2-sulfatase

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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