OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Isolated somatotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.030 GeneticVariation disease BEFREE A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency. 26974134 2016
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.030 GeneticVariation disease BEFREE A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.030 GeneticVariation disease BEFREE It is likely that the heterozygous severe OTX2 loss-of-function mutation caused GH deficiency and short stature, primarily because of decreased transactivation function for HESX1 and POU1F1. 18628516 2008