mucopolysaccharidosis type IIID

Summary
Synonym
  • GNS deficiency
  • MPS IIID
  • MPS3D
  • Mucopolysaccharidosis type 3D
  • N-acetylglucosamine-6-sulfatase deficiency
  • Sanfilippo syndrome D
  • Sanfilippo syndrome type D
Definition
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
Super Class
autosomal recessive disease mucopolysaccharidosis III
External Links
Disease Ontology
DOID:0111402
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2799 GNS glucosamine (N-acetyl)-6-sulfatase
4669 NAGLU N-acetyl-alpha-glucosaminidase
6448 SGSH N-sulfoglucosamine sulfohydrolase
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000154 Wide mouth
HP:0000158 Macroglossia
HP:0000179 Thick lower lip vermilion
HP:0000187 Broad alveolar ridges
HP:0000256 Macrocephaly
HP:0000280 Coarse facial features
HP:0000316 Hypertelorism
HP:0000365 Hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
2799 GNS glucosamine (N-acetyl)-6-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