Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Miller-Dieker lissencephaly syndrome
Summary
- Synonym
-
- MDS
- Miller-Dieker syndrome
- Definition
- A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
- Super Class
- autosomal dominant disease syndrome
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001539 | Omphalocele |
| HP:0000286 | Epicanthus |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0001250 | Seizure |
| HP:0003196 | Short nose |
| HP:0001339 | Lissencephaly |
| HP:0000463 | Anteverted nares |
| HP:0001626 | Abnormality of the cardiovascular system |
