The deficiency of IGF transport protein is an autosomal recessive disorder. It is characterized by mild growth and developmental delay which cannot be improved by growth hormone (GH) substitution. Characteristically, GH application is not followed by an increase of IGF in plasma.
|Growth hormone insensitivity|
|Growth hormone insensitivity with immunodeficiency|
|Insulin-like growth factor 1 deficiency|
|Insulin-like growth factor 1 resistance|
|Insulin-like growth factor 1 transport protein deficiency|
Masui T et al. (2007) Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex.
Al-Shammari M et al. (2011) A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
Yorifuji T et al. (2012) Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
Weedon MN et al. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Yu L et al. (2014) Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Rosas M et al. (2014) The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.
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Wikipedia articleWikipedia EN (GATA6)