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 and metabolic disease
Brite
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 other specified disorders of pituitary gland
H02037 Laron syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H02037 Laron syndrome
Endocrine system
nt06324 GHRH-GH-IGF signaling
H02037 Laron syndrome
