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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 |
|---|---|---|---|
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2530 | FUT8 | fucosyltransferase 8 | |
| 2531 | KDSR | 3-ketodihydrosphingosine reductase | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2645 | GCK | glucokinase |
Related Glycoprotein
