PITX3 gene related symptoms and diseases
All the information presented here about the PITX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PITX3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Cataract | Common - Between 50% and 80% cases |
| Abnormality of the dentition | Common - Between 50% and 80% cases |
| Posterior polar cataract | Common - Between 50% and 80% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PITX3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Seizures
- Respiratory distress
- Fever
- Hypertension
- Feeding difficulties
- Pain
- Generalized hypotonia
- Short stature
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PITX3 gene
Here you will find a list of rare diseases related to the PITX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ANTERIOR SEGMENT DYSGENESIS 1; ASGD1
Alternate names
ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis, asmd, anterior segment ocular dysgenesis, asod
Description
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).
Most common symptoms of ANTERIOR SEGMENT DYSGENESIS 1; ASGD1
- Intellectual disability
- Global developmental delay
- Nystagmus
- Strabismus
- Sensorineural hearing impairment
More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1
CATARACT 11, MULTIPLE TYPES; CTRCT11
Alternate names
CATARACT 11, MULTIPLE TYPES; CTRCT11 Is also known as cataract, posterior polar, 4, cpp4, ctpp4
Description
Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'
Most common symptoms of CATARACT 11, MULTIPLE TYPES; CTRCT11
- Intellectual disability
- Cataract
- Blindness
- Hypertonia
- Microphthalmia
More info about CATARACT 11, MULTIPLE TYPES; CTRCT11
CATARACT-GLAUCOMA SYNDROME
Description
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
Most common symptoms of CATARACT-GLAUCOMA SYNDROME
- Seizures
- Short stature
- Generalized hypotonia
- Pain
- Feeding difficulties
More info about CATARACT-GLAUCOMA SYNDROME
SOURCES: ORPHANET
Search interest in PITX3
Potential gene panels for PITX3 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Optic Atrophy and Early Glaucoma Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panel United States.
Axenfeld-Rieger syndrome Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Axenfeld-Rieger syndrome that also includes the following genes: B3GLCT CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
More info about this panel Denmark.
Anterior segment defects Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2
More info about this panel Denmark.
PITX3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PITX3 gene.
More info about this panel Spain.
Cataracts (NGS panel for 41 genes) Panel
Portugal.
By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12
More info about this panel Portugal.
Anterior segment mesenchymal dysgenesis (sequence analysis of PITX3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PITX3 gene.
More info about this panel Portugal.
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1
More info about this panel Portugal.
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1
More info about this panel Portugal.
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PITX3 gene.
More info about this panel United States.
Congenital Cataracts Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA
More info about this panel United States.
Cataract panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR
More info about this panel Germany.
Anterior segment mesenchymal dysgenesis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PITX3 gene.
More info about this panel Germany.
Cataract 11, multiple types Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PITX3 gene.
More info about this panel Germany.
Cataract Panel Panel
Germany.
By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12
More info about this panel Germany.
Cataract Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2
More info about this panel Estonia.
Glaucoma Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
Cataract, posterior polar, 4 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PITX3 gene.
More info about this panel Austria.
Anterior segment mesenchymal dysgenesis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PITX3 gene.
More info about this panel Austria.
Cataract, posterior polar 4; Anterior segmental dysgenesis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PITX3 gene.
More info about this panel Austria.
Anterior segment mesenchymal dysgenesis Panel
Slovakia.
By MedGene
This panel specifically test the PITX3 gene.
More info about this panel Slovakia.
Cataract, posterior polar 4; Anterior segmental dysgenesis Panel
Slovakia.
By MedGene
This panel specifically test the PITX3 gene.
More info about this panel Slovakia.
Cataract, posterior polar, 4 Panel
Slovakia.
By MedGene
This panel specifically test the PITX3 gene.
More info about this panel Slovakia.
Invitae Congenital Cataracts Panel Panel
United States.
By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1
More info about this panel United States.
Glaucoma (Advance) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
More info about this panel Spain.
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR
More info about this panel United States.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Glaucoma NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
More info about this panel United States.
PITX3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PITX3 gene.
More info about this panel United States.
Cataract Panel Panel
Finland.
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panel Finland.
Cataract 11, syndromic Panel
Spain.
By Bioarray
This panel specifically test the PITX3 gene.
More info about this panel Spain.
GLAUCOMA NGS ÀNEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1
More info about this panel Spain.
Syndromic Congenital Cataract Type 11 , Sequencing PITX3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PITX3 gene.
More info about this panel Spain.
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA
More info about this panel Spain.
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: PXDN CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
More info about this panel Spain.
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