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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 |
|---|---|---|---|
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9563 | H6PD | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase |
Related Glycoprotein
