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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
| 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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P37287 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
- The Human Phenotype Ontology
| 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 |
