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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 |
|---|---|---|---|
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 29926 | GMPPA | GDP-mannose pyrophosphorylase A | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 51548 | SIRT6 | sirtuin 6 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 55331 | ACER3 | alkaline ceramidase 3 | |
| 55343 | SLC35C1 | solute carrier family 35 member C1 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 |
Related Glycoprotein
