FOXE3 gene related symptoms and diseases
All the information presented here about the FOXE3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FOXE3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Corneal opacity | Common - Between 50% and 80% cases |
| Nystagmus | Common - Between 50% and 80% cases |
| Cataract | Common - Between 50% and 80% cases |
| Ectopia pupillae | Uncommon - Between 30% and 50% cases |
| Anterior synechiae of the anterior chamber | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FOXE3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Peters anomaly
- Anterior segment developmental abnormality
- Corneal neovascularization
- Hypoplasia of the iris
- Posterior embryotoxon
- Aniridia
- Ectopia lentis
- Microcornea
And 101 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FOXE3 gene
Here you will find a list of rare diseases related to the FOXE3. 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 34, MULTIPLE TYPES; CTRCT34
Alternate names
CATARACT 34, MULTIPLE TYPES; CTRCT34 Is also known as cataract, autosomal recessive congenital 3, cataract 34, multiple types, with or without microcornea, catc3
Description
Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.
Most common symptoms of CATARACT 34, MULTIPLE TYPES; CTRCT34
- Nystagmus
- Cataract
- Corneal opacity
- Congenital cataract
- Microcornea
More info about CATARACT 34, MULTIPLE TYPES; CTRCT34
CONGENITAL PRIMARY APHAKIA
Alternate names
CONGENITAL PRIMARY APHAKIA Is also known as aphakia, congenital primary, cpak, cpa
Description
Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.
Most common symptoms of CONGENITAL PRIMARY APHAKIA
- Nystagmus
- Abnormal facial shape
- Cataract
- Microphthalmia
- Glaucoma
More info about CONGENITAL PRIMARY APHAKIA
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
Alternate names
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad
Description
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
- Scoliosis
- Hypertelorism
- Hypertension
- Dilatation
- Patent ductus arteriosus
More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
SOURCES: ORPHANET
PETERS ANOMALY
Alternate names
PETERS ANOMALY Is also known as peters congenital glaucoma
Description
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Most common symptoms of PETERS ANOMALY
- Nystagmus
- Strabismus
- Cataract
- Glaucoma
- Reduced visual acuity
More info about PETERS ANOMALY
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11
Most common symptoms of AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11
- Hypertension
- Dilatation
- Aortic dissection
- Ascending aortic dissection
- Descending aortic dissection
More info about AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11
SOURCES: OMIM
Search interest in FOXE3
Potential gene panels for FOXE3 gene
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.
Familial Aneurysm Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
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.
FOXE3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FOXE3 gene.
More info about this panel Germany.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
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 FOXE3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FOXE3 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.
Anterior Segment Dysgenesis via FOXE3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FOXE3 gene.
More info about this panel United States.
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection that also includes the following genes: B3GLCT COL4A1 CYP1B1 SH3PXD2B FOXC1 FOXE3 ASPH PAX6 PITX2
More info about this panel United States.
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3
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.
Corneal Dystrophies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469
More info about this panel United States.
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Cataract Panel
Germany.
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel
Germany.
By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2
More info about this panel Germany.
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.
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.
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1
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.
Invitae Microphthalmia/Anophthalmia Disorders Panel Panel
United States.
By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3
More info about this panel United States.
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.
FOXE3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FOXE3 gene.
More info about this panel United States.
Corneal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
Glaucoma Panel Panel
Finland.
By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3
More info about this panel Finland.
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.
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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