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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 |
|---|---|---|---|
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5476 | CTSA | cathepsin A | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5836 | PYGL | glycogen phosphorylase L | |
| 6307 | MSMO1 | methylsterol monooxygenase 1 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
Related Glycoprotein
