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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 |
|---|---|---|---|
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3373 | HYAL1 | hyaluronidase 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3636 | INPPL1 | inositol polyphosphate phosphatase like 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule |
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 |
