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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 |
|---|---|---|---|
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 1650 | DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 |
Related Glycoprotein
