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
External Links
Disease Ontology
DOID:0060248
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
39013 dally division abnormally delayed
The Human Phenotype Ontology
Displaying entries 121 - 130 of 138 in total
HPO ID HPO Term
HP:0004279 Short palm
HP:0004464 Postauricular pit
HP:0004467 Preauricular pit
HP:0005160 Total anomalous pulmonary venous return
HP:0005280 Depressed nasal bridge
HP:0005580 Duplication of renal pelvis
HP:0006176 Two carpal ossification centers present at birth
HP:0006610 Wide intermamillary distance
HP:0008416 Six lumbar vertebrae
HP:0008523 Posterior helix pit
Displaying 1 entry
Gene ID Gene Symbol Description
2719 GPC3 glypican 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024