mucopolysaccharidosis type IIIA

Summary
Synonym
  • MPS3A
  • MPSIIIA
  • Sanfilippo syndrome type A
  • heparan sulfamidase deficiency
  • mucopolysaccharidosis III-A
  • mucopolysaccharidosis type 3A
  • mucopolysaccharidosis type IIIA (Sanfilippo A)
Definition
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
Super Class
autosomal recessive disease mucopolysaccharidosis III
External Links
Disease Ontology
DOID:0111395
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
411 ARSB arylsulfatase B
1103 CHAT choline O-acetyltransferase
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
2799 GNS glucosamine (N-acetyl)-6-sulfatase
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
4669 NAGLU N-acetyl-alpha-glucosaminidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 27 in total
HPO ID HPO Term
HP:0001537 Umbilical hernia
HP:0000900 Thickened ribs
HP:0002650 Scoliosis
HP:0000280 Coarse facial features
HP:0002159 Heparan sulfate excretion in urine
HP:0001250 Seizure
HP:0000023 Inguinal hernia
HP:0001387 Joint stiffness
HP:0002240 Hepatomegaly
HP:0000664 Synophrys
Displaying 1 entry
Gene ID Gene Symbol Description
6448 SGSH N-sulfoglucosamine sulfohydrolase

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Acknowledgements

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


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