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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
- Disease Ontology
- DOID:0060469
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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 |
