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 81 - 90 of 136 in total
Gene ID Gene Symbol Description Source
6391 SDHC succinate dehydrogenase complex subunit C
6392 SDHD succinate dehydrogenase complex subunit D
6514 SLC2A2 solute carrier family 2 member 2
6609 SMPD1 sphingomyelin phosphodiesterase 1
6646 SOAT1 sterol O-acyltransferase 1
6783 SULT1E1 sulfotransferase family 1E member 1
6820 SULT2B1 sulfotransferase family 2B member 1
7355 SLC35A2 solute carrier family 35 member A2
7358 UGDH UDP-glucose 6-dehydrogenase
7412 VCAM1 vascular cell adhesion molecule 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