mucopolysaccharidosis IVA

Summary
Synonym
  • GALNS deficiency
  • MPS IVA
  • MPS4A
  • Morquio A disease
  • Morquio syndrome A
Definition
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
Super Class
autosomal recessive disease mucopolysaccharidosis IV
External Links
Disease Ontology
DOID:0111391
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
411 ARSB arylsulfatase B
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2720 GLB1 galactosidase beta 1
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
4669 NAGLU N-acetyl-alpha-glucosaminidase
6482 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1
6483 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q8NBK3 Formylglycine-generating enzyme
The Human Phenotype Ontology
Displaying entries 21 - 30 of 47 in total
HPO ID HPO Term
HP:0001654 Abnormal heart valve morphology
HP:0002091 Restrictive ventilatory defect
HP:0002240 Hepatomegaly
HP:0002318 Cervical myelopathy
HP:0002515 Waddling gait
HP:0002650 Scoliosis
HP:0002673 Coxa valga
HP:0002788 Recurrent upper respiratory tract infections
HP:0002808 Kyphosis
HP:0002857 Genu valgum
Displaying 1 entry
Gene ID Gene Symbol Description
2588 GALNS galactosamine (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