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
External Links
Disease Ontology
DOID:9521
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 136 in total
Gene ID Gene Symbol Description Source
2517 FUCA1 alpha-L-fucosidase 1
2530 FUT8 fucosyltransferase 8
2531 KDSR 3-ketodihydrosphingosine reductase
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2542 SLC37A4 solute carrier family 37 member 4
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
2629 GBA1 glucosylceramidase beta 1
2645 GCK glucokinase

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024