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 121 - 130 of 136 in total
Gene ID Gene Symbol Description Source
55790 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
55858 TMEM165 transmembrane protein 165
57104 PNPLA2 patatin like phospholipase domain containing 2
64116 SLC39A8 solute carrier family 39 member 8
64131 XYLT1 xylosyltransferase 1
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
80055 PGAP1 post-GPI attachment to proteins inositol deacylase 1
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
91869 RFT1 RFT1 homolog

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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