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 61 - 70 of 79 in total
HPO ID HPO Term
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0003273 Hip contracture
HP:0003517 Birth length greater than 97th percentile
HP:0005257 Thoracic hypoplasia
HP:0005280 Depressed nasal bridge
HP:0005484 Secondary microcephaly
HP:0006380 Knee flexion contracture
HP:0006956 Lateral ventricle dilatation
HP:0006986 Upper limb spasticity
HP:0007361 Abnormal pons morphology
Displaying 1 entry
Gene ID Gene Symbol Description
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A

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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