Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.
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
H02040 Insulin-like growth factor I deficiency
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06324 GHRH-GH-IGF signaling
H02040 Insulin-like growth factor I deficiency
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM
Title
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
