developmental and epileptic encephalopathy 1

Summary
Synonym
  • DEE1
  • X-linked infantile spasm syndrome 1
  • early infantile epileptic encephalopathy 1
Definition
A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
Super Class
X-linked recessive disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080468
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9254 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2
23236 PLCB1 phospholipase C beta 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
The Human Phenotype Ontology
Displaying entries 21 - 30 of 55 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0001266 Choreoathetosis
HP:0001272 Cerebellar atrophy
HP:0001302 Pachygyria
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001500 Broad finger
HP:0001508 Failure to thrive
HP:0001537 Umbilical hernia
HP:0001629 Ventricular septal defect
Displaying all 5 entries
Gene ID Gene Symbol Description
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
23236 PLCB1 phospholipase C beta 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3

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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