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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 |
|---|---|---|---|
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 952 | CD38 | CD38 molecule | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 |
Related Glycoprotein
