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 61 - 70 of 138 in total
HPO ID HPO Term
HP:0002705 High, narrow palate
HP:0002884 Hepatoblastoma
HP:0002948 Vertebral fusion
HP:0003006 Neuroblastoma
HP:0003196 Short nose
HP:0003212 Increased circulating IgE level
HP:0003422 Vertebral segmentation defect
HP:0004209 Clinodactyly of the 5th finger
HP:0004510 Pancreatic islet-cell hyperplasia
HP:0005616 Accelerated skeletal maturation
Displaying 1 entry
Gene ID Gene Symbol Description
2719 GPC3 glypican 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024