OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. 30268123 2018
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE A novel heterozygous OTX2 missense mutation was identified in a patient showing bilateral anophthalmia who inherited the variant from a parent who was a carrier, but showed no sign of the condition. 29178648 2017
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 CausalMutation disease CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 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
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified. 26130484 2016
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity. 27378064 2016
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE We also identified one heterozygous 6.5-Mb deletion encompassing OTX2 in a patient with bilateral anophthalmia and multiple pituitary hormone deficiency. 25342853 2015
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE Mutations of BMP4 and OTX2 often lead to eye defects, including anophthalmia-microphthalmia. 23103883 2013
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies. 20486942 2011
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 Biomarker disease BEFREE Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations. 21203406 2010
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE We surveyed the functional consequences of a novel OTX2 mutation that was detected in a patient with anophthalmia and CPHD. 18854396 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE Fifty-one patients suffering from nonsyndromic microphthalmia (n = 40) or anophthalmia (n = 11) were included in this study after negative molecular screening for SOX2, OTX2, RAX, and CHX10 mutations. 19397404 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. 18628516 2008
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease LHGDN Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. 18781617 2008
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 GeneticVariation disease BEFREE Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. 18781617 2008
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 AlteredExpression disease BEFREE The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the patients, which range from bilateral anophthalmia to retinal defects resembling Leber congenital amaurosis and pigmentary retinopathy. 15846561 2005
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.200 Biomarker disease HPO