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Laron syndrome
Summary
- Synonym
-
- Laron-type isolated somatotropin defect
- Definition
- A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 2710 | GK | glycerol kinase | |
| 2717 | GLA | galactosidase alpha | |
| 2719 | GPC3 | glypican 3 | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2760 | GM2A | ganglioside GM2 activator | |
| 2819 | GPD1 | glycerol-3-phosphate dehydrogenase 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBM7 | 7-dehydrocholesterol reductase | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UP83 | Conserved oligomeric Golgi complex subunit 5 | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 | |
| Q9Y2S2 | Lambda-crystallin homolog | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6Z7 | Collectin-10 |
