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 entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
285362 SUMF1 sulfatase modifying factor 1
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 1 - 10 of 47 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000154 Wide mouth
HP:0000280 Coarse facial features
HP:0000303 Mandibular prognathia
HP:0000365 Hearing impairment
HP:0000470 Short neck
HP:0000670 Carious teeth
HP:0000683 Grayish enamel
HP:0000687 Widely spaced teeth
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