Disease
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
[ DI0008354 ]
- Summary
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2, also known as glycosylphosphatidylinositol biosynthesis defect 4, is related to hemoglobinuria and paroxysmal nocturnal hemoglobinuria, and has symptoms including myoclonic seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include heart, pons and eye, and relatedphenotypes are hepatomegaly and ichthyosis
- Synonym
- EIEE20 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 GPIBD4 MCAHS2 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
- Xref
- DO: DOID:0080139 OMIM: 300868 OMIM: 311770
Classification
| PMappKB GV ID | Genomic Location | Alt | ProAlt | Gene symbol | Relation |
|---|