multiple congenital anomalies-hypotonia-seizures syndrome 2

Summary
Synonym
  • developmental and epileptic encephalopathy 20
  • early infantile epileptic encephalopathy 20
  • glycosylphosphatidylinositol biosynthesis defect 4
Definition
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
Super Class
X-linked recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
Disease Ontology
DOID:0080139
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
18700 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
363464 Piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
37020 PIG-A Phosphatidylinositol glycan anchor biosynthesis class A
Displaying 1 entry
Gene ID Gene Symbol Description Source
791759 piga phosphatidylinositol glycan anchor biosynthesis, class A
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100158632 piga phosphatidylinositol glycan anchor biosynthesis class A Xenopus tropicalis (tropical clawed frog)
108707921 piga.L phosphatidylinositol glycan anchor biosynthesis class A L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174386 piga-1 phosphatidylinositol N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855928 SPT14 phosphatidylinositol N-acetylglucosaminyltransferase SPT14
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P37287 Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 79 in total
HPO ID HPO Term
HP:0000054 Micropenis
HP:0000076 Vesicoureteral reflux
HP:0000081 Duplicated collecting system
HP:0000160 Narrow mouth
HP:0000201 Pierre-Robin sequence
HP:0000207 Triangular mouth
HP:0000212 Gingival overgrowth
HP:0000218 High palate
HP:0000239 Large fontanelles
HP:0000252 Microcephaly
Displaying 1 entry
Gene ID Gene Symbol Description
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024