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 41 - 50 of 136 in total
Gene ID Gene Symbol Description Source
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
2710 GK glycerol kinase
2717 GLA galactosidase alpha
2719 GPC3 glypican 3
2720 GLB1 galactosidase beta 1
2760 GM2A ganglioside GM2 activator
2819 GPD1 glycerol-3-phosphate dehydrogenase 1
2990 GUSB glucuronidase beta
2998 GYS2 glycogen synthase 2
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024