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Simpson-Golabi-Behmel syndrome type 1
Summary
- Synonym
-
- DGSX Golabi-Rosen syndrome
- Golabi-Rosen syndrome
- SGB syndrome
- Sara Angers syndrome
- Simpson dysmorphia syndrome
- X-linked dysplasia gigantism syndrome
- bulldog syndrome
- Definition
- A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
- Super Class
- X-linked recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 2262 | GPC5 | glypican 5 | |
| 2719 | GPC3 | glypican 3 | |
| 2817 | GPC1 | glypican 1 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 10082 | GPC6 | glypican 6 | |
| 10135 | NAMPT | nicotinamide phosphoribosyltransferase | |
| 79709 | COLGALT1 | collagen beta(1-O)galactosyltransferase 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000767 | Pectus excavatum |
| HP:0000772 | Abnormal rib morphology |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
