Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5476 | CTSA | cathepsin A | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5836 | PYGL | glycogen phosphorylase L | |
| 6307 | MSMO1 | methylsterol monooxygenase 1 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
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 |
