OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Hypopituitarism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.020 GeneticVariation disease BEFREE We identified three novel pathogenic variants in GHRHR, OTX2 and GLI2 expanding the spectrum of variants associated with congenital hypopituitarism. 30959475 2019
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.020 GeneticVariation disease BEFREE Mutations in OTX2 cause hypopituitarism, ranging from isolated growth hormone deficiency to combined pituitary hormone deficiency (CPHD), which are commonly detected in association with severe eye abnormalities, including anophthalmia or microphthalmia. 27299576 2016