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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 |
|---|---|---|---|
| 3955 | LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | |
| 4247 | MGAT2 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 4967 | OGDH | oxoglutarate dehydrogenase | |
| 5095 | PCCA | propionyl-CoA carboxylase subunit alpha | |
| 5096 | PCCB | propionyl-CoA carboxylase subunit beta | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5236 | PGM1 | phosphoglucomutase 1 |
Related Glycoprotein
