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Details for phenotype: Laron syndrome
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EndoNet ID: ENP00462
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Name
Laron syndrome
General information
This phenotype is pathologic
Primary GH insensitivity (GHI) is a rare inherited disorder characterised by severe postnatal growth failure, normal or increased GH secretion and insulin-like growth factor 1 deficiency.
[1]
Links to other resources
GO
response to growth hormone stimulus
OMIM
262500
MeSH term
D046150
Disease database
7262
Phenotype triggers
no activity (knock out experiment or RNAi) of
growth hormone receptor
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in
skeleton_muscle
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In the majority of GHI patients, a genetic defect in the GH receptor gene leading to a functionless receptor is present.
[1]
Reference
