mucopolysaccharidosis type IIIC

Summary
Synonym
  • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
  • HGSNAT deficiency
  • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
  • MPS3C
  • MPSIIIC
  • Mucopolysaccharidosis type 3C
  • Sanfilippo syndrome type C
  • mucopolysaccharidosis type IIIC (Sanfilippo C)
Definition
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
Super Class
autosomal recessive disease mucopolysaccharidosis III
External Links
Disease Ontology
DOID:0111393
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
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 37 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0003309 Ovoid thoracolumbar vertebrae
HP:0000664 Synophrys
HP:0002159 Heparan sulfate excretion in urine
HP:0000268 Dolichocephaly
HP:0002360 Sleep abnormality
HP:0000998 Hypertrichosis
HP:0011463 Childhood onset
HP:0001670 Asymmetric septal hypertrophy
HP:0000232 Everted lower lip vermilion
Displaying 1 entry
Gene ID Gene Symbol Description
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase

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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