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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 |
|---|---|---|---|
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 10466 | COG5 | component of oligomeric golgi complex 5 | |
| 10584 | COLEC10 | collectin subfamily member 10 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 22856 | CHSY1 | chondroitin sulfate synthase 1 | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 23483 | TGDS | TDP-glucose 4,6-dehydratase | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 |
Related Glycoprotein
