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 101 - 110 of 136 in total
Gene ID Gene Symbol Description Source
9993 DGCR2 DiGeorge syndrome critical region gene 2
10466 COG5 component of oligomeric golgi complex 5
10584 COLEC10 collectin subfamily member 10
10682 EBP EBP cholestenol delta-isomerase
10908 PNPLA6 patatin like phospholipase domain containing 6
11285 B4GALT7 beta-1,4-galactosyltransferase 7
22856 CHSY1 chondroitin sulfate synthase 1
23417 MLYCD malonyl-CoA decarboxylase
23483 TGDS TDP-glucose 4,6-dehydratase
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2

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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