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Sakati-Nyhan syndrome
Summary
- Synonym
-
- ACPS with leg hypoplasia
- Sakati syndrome
- Sakati-Nyhan-Tisdale syndrome
- acrocephalopolysyndactyly Type III
- acrocephalopolysyndactyly type 3
- Definition
- An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
- Super Class
- acrocephalosyndactylia
External Links
- Disease Ontology
- DOID:0060359
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 4047 | LSS | lanosterol synthase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5067 | CNTN3 | contactin 3 | |
| 9382 | COG1 | component of oligomeric golgi complex 1 |
Related Glycoprotein
