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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 |
|---|---|---|---|
| 55790 | CSGALNACT1 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | |
| 55858 | TMEM165 | transmembrane protein 165 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 91869 | RFT1 | RFT1 homolog |
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 |
