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 |
|---|---|---|---|
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 29926 | GMPPA | GDP-mannose pyrophosphorylase A | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 51548 | SIRT6 | sirtuin 6 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 55331 | ACER3 | alkaline ceramidase 3 | |
| 55343 | SLC35C1 | solute carrier family 35 member C1 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 |
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 |
