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 21 - 30 of 40 in total
Gene ID Gene Symbol Description Source
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3897 L1CAM L1 cell adhesion molecule
4125 MAN2B1 mannosidase alpha class 2B member 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4758 NEU1 neuraminidase 1
4907 NT5E 5'-nucleotidase ecto
5476 CTSA cathepsin A
6448 SGSH N-sulfoglucosamine sulfohydrolase
6677 SPAM1 sperm adhesion molecule 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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Last updated: August 19, 2024