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 51 - 60 of 136 in total
Gene ID Gene Symbol Description Source
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3339 HSPG2 heparan sulfate proteoglycan 2
3373 HYAL1 hyaluronidase 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3636 INPPL1 inositol polyphosphate phosphatase like 1
3897 L1CAM L1 cell adhesion molecule

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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