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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 |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 176 | ACAN | aggrecan | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 226 | ALDOA | aldolase, fructose-bisphosphate A | |
| 242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 411 | ARSB | arylsulfatase B | |
| 412 | STS | steroid sulfatase |
Related Glycoprotein
