PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans. 16565358 2006
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD. 15665340 2005
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. 18989383 2008
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment. 22223473 2012
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE The results show that in some individuals within one family, duplication of this segment of PITX3 can result in severe symptoms leading to functional blindness while in other individuals in the same family or in other families, the same duplication leads to treatable cataract with minimal visual impairment. 18989383 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree, however, this gene appears responsible for only a small proportion of congenital cataract in Australia. 16636655 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients. 16272057 2005
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Mutations in the homologous human PITX3 gene have been demonstrated to be causative of cataracts and the dysmorphology of the anterior segment of the eye. 12660863 2003
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. 29314435 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE The prevalence of PITX3 gene‑associated cataract was 1.54% (3/195) in the Chinese congenital cataract (CC) family cohort. 30816539 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 16565358 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Only five unique PITX3 mutations have been described, of which the 17-bp duplication c.640_656dup, p.(Gly220Profs*95), is the most common one and the only one known to cause cataract with ASD. 24555714 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment. 22223473 2012
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment. 16565358 2006
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE In one family, a novel BFSP2 mutation causes autosomal recessive diffuse cortical cataract with scattered lens opacities, and in another, a novel PITX3 mutation causes an autosomal recessive severe form of anterior segment dysgenesis and microphthalmia. 21836522 2011
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 GeneticVariation disease BEFREE Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated. 17888164 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE Preliminary evidence that genetic variation in LMX1A (rs6668493, rs4657411), LMX1B (rs10987386) and PITX3 (rs4919621) may increase the risk of developing schizophrenia is presented. 20570600 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE Pitx3) or in neurological disorders like Schizophrenia (e.g.Crybb1, Crybb2). 26593886 2017
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		0.310 AlteredExpression disease BEFREE In the present study, we show that each of these transcription factors is robustly expressed in adult dopamine neurons in human midbrain, and that cocaine abuse is associated with a significant decrease in the abundance of Nurr1 and Pitx3 in these cells. 15094491 2004
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GeneticVariation disease BEFREE A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract. 30894134 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE In contrast, a previous finding suggesting a SNP (rs3758549) in the putative promoter region of the PITX3 gene to be associated with PD could not be replicated. 18420308 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 GeneticVariation disease BEFREE The results of meta-analysis suggested that the PITX3 SNP rs3758549 was significantly associated with risk of PD in the Asian population (genotype TT+TC vs. CC, P=0.014; allele T vs. C, P=0.019) but not in the Caucasian population (genotype TT+TC vs. CC, P=0.053; allele T vs. C, P=0.251). 24394914 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.300 Biomarker disease BEFREE Our findings highlight the importance of Pitx3-GDNF interplay in dopamine signaling and indicate that our strategy might be useful for the restoration of DAergic fate of NT2 cells to make them clinically applicable toward cell replacement therapy of PD. 31310388 2020