mucopolysaccharidosis type IIIB

Summary
Synonym
  • MPS3B
  • MPSIIIB
  • Mucopoly-saccharidosis type 3B
  • Mucopolysaccharidosis type 3B
  • N-acetyl-alpha-glucosaminidase deficiency
  • NAGLU deficiency
  • Sanfilippo syndrome type B
  • mucopolysaccharidosis type IIIB (Sanfilippo B)
Definition
A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
Super Class
autosomal recessive disease mucopolysaccharidosis III
External Links
Disease Ontology
DOID:0111394
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2799 GNS glucosamine (N-acetyl)-6-sulfatase
3425 IDUA alpha-L-iduronidase
4669 NAGLU N-acetyl-alpha-glucosaminidase
6448 SGSH N-sulfoglucosamine sulfohydrolase
51172 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
HPO ID HPO Term
HP:0001744 Splenomegaly
HP:0000900 Thickened ribs
HP:0003309 Ovoid thoracolumbar vertebrae
HP:0000365 Hearing impairment
HP:0002240 Hepatomegaly
HP:0001250 Seizure
HP:0000250 Dense calvaria
HP:0001640 Cardiomegaly
HP:0002360 Sleep abnormality
HP:0000718 Aggressive behavior
Displaying 1 entry
Gene ID Gene Symbol Description
4669 NAGLU N-acetyl-alpha-glucosaminidase

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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