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 1 - 10 of 40 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
176 ACAN aggrecan
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
821 CANX calnexin
847 CAT catalase
912 CD1D CD1d molecule
952 CD38 CD38 molecule
1800 DPEP1 dipeptidase 1
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

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024