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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Smith-Magenis syndrome
Summary
- Synonym
-
- 17p11.2 microdeletion syndrome
- chromosome 17p11.2 deletion syndrome
- Definition
- A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
- Super Class
- chromosomal deletion syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 2572 | GAD2 | glutamate decarboxylase 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 56953 | NT5M | 5',3'-nucleotidase, mitochondrial | |
| 158326 | FREM1 | FRAS1 related extracellular matrix 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P08842 | Steryl-sulfatase | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
