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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) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003273 | Hip contracture |
| HP:0002240 | Hepatomegaly |
| HP:0007361 | Abnormal pons morphology |
| HP:0002061 | Lower limb spasticity |
| HP:0005280 | Depressed nasal bridge |
| HP:0011129 | Bilateral fetal pyelectasis |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0012465 | Elevated hepatic iron concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0002171 | Gliosis |
