KEGG   DISEASE: Laron syndrome
Entry
H02037                      Disease                                

Name
Laron syndrome;
Growth hormone insensitivity syndrome;
Pituitary dwarfism II
  Supergrp
Growth hormone deficiency [DS:H00254]
Hypopituitarism [DS:H01700]
Description
Laron syndrome is a rare autosomal recessive disease characterized by insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective functioning of the GH-IGF1 signalling pathway. The main phenotypic feature is dwarfism, noticeable from birth. Patients have an elevated level of GH and undetectable, or very low IGF1 concentrations in serum.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H02037  Laron syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H02037  Laron syndrome
Pathway
hsa04080 Neuroactive ligand-receptor interaction   
hsa04060 Cytokine-cytokine receptor interaction   
hsa04630 Jak-STAT signaling pathway   
hsa04151 PI3K-Akt signaling pathway   
Network
  Element
N00909  Mutation-inactivated GHR to GH-Jak-STAT signaling pathway
Gene
GHR [HSA:2690] [KO:K05080]
Other DBs
ICD-11: 5A61.0
ICD-10: E34.3
MeSH: D046150
OMIM: 262500
Reference
  Authors
Janecka A, Kolodziej-Rzepa M, Biesaga B
  Title
Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.
  Journal
In Vivo 30:375-81 (2016)
Reference
PMID:8450064
  Authors
Edery M, Rozakis-Adcock M, Goujon L, Finidori J, Levi-Meyrueis C, Paly J, Djiane J, Postel-Vinay MC, Kelly PA
  Title
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
  Journal
J Clin Invest 91:838-44 (1993)
DOI:10.1172/JCI116304
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