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 91 - 100 of 136 in total
Gene ID Gene Symbol Description Source
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
8867 SYNJ1 synaptojanin 1
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
9126 SMC3 structural maintenance of chromosomes 3
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9469 CHST3 carbohydrate sulfotransferase 3
9563 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
9791 PTDSS1 phosphatidylserine synthase 1
9896 FIG4 FIG4 phosphoinositide 5-phosphatase

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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