developmental and epileptic encephalopathy 15

Summary
Synonym
  • DEE15
  • early infantile epileptic encephalopathy 15
Definition
A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080414
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
20441 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
64445 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
393326 st3gal3a ST3 beta-galactoside alpha-2,3-sialyltransferase 3a
407659 st3gal3b ST3 beta-galactoside alpha-2,3-sialyltransferase 3b
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
402789 st3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Xenopus tropicalis (tropical clawed frog)
108715547 LOC108715547 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase Xenopus laevis (African clawed frog)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0002521 Hypsarrhythmia
HP:0001336 Myoclonus
HP:0012469 Infantile spasms
HP:0000707 Abnormality of the nervous system
HP:0011121 Abnormal skin morphology
HP:0002376 Developmental regression
HP:0002476 Primitive reflex
HP:0001252 Hypotonia
HP:0010819 Atonic seizure
HP:0000737 Irritability
Displaying all 3 entries
Gene ID Gene Symbol Description
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
23236 PLCB1 phospholipase C beta 1

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Acknowledgements

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


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Last updated: August 19, 2024