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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 |
|---|---|---|---|
| 220 | ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 378 | ARF4 | ADP ribosylation factor 4 | |
| 811 | CALR | calreticulin | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1579 | CYP4A11 | cytochrome P450 family 4 subfamily A member 11 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 2717 | GLA | galactosidase alpha |
Related Glycoprotein
