Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51654 | Glypican-3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8CFZ4 | Glypican-3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000072 | Hydroureter |
| HP:0000073 | Ureteral duplication |
| HP:0000098 | Tall stature |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000158 | Macroglossia |
