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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Meckel syndrome
Summary
- Synonym
-
- Meckel-Gruber syndrome
- Definition
- A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
- Super Class
- ciliopathy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 114780 | PKD1L2 | polycystin 1 like 2 (gene/pseudogene) | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 342372 | PKD1L3 | polycystin 1 like 3, transient receptor potential channel interacting |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBM7 | 7-dehydrocholesterol reductase | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
