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 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
6448 SGSH N-sulfoglucosamine sulfohydrolase
10724 OGA O-GlcNAcase
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
285362 SUMF1 sulfatase modifying factor 1
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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Last updated: August 19, 2024