FOXC1 gene related symptoms and diseases
All the information presented here about the FOXC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FOXC1 gene
Symptoms // Phenotype | % Cases |
---|---|
Peters anomaly | Common - Between 50% and 80% cases |
Hypoplasia of the iris | Common - Between 50% and 80% cases |
Glaucoma | Common - Between 50% and 80% cases |
Aniridia | Common - Between 50% and 80% cases |
Ectopia pupillae | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with FOXC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ectopia lentis
- Rieger anomaly
- Anterior segment developmental abnormality
- Posterior embryotoxon
Rarely - Less than 30% cases
- Hearing impairment
- Strabismus
- Retinal detachment
- Depressed nasal bridge
And 172 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FOXC1 gene
Here you will find a list of rare diseases related to the FOXC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TETRALOGY OF FALLOT
Description
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
AXENFELD-RIEGER SYNDROME
Alternate names
AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome, anterior chamber cleavage syndrome, rieger syndrome, type 3, rieger syndrome, axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss
Description
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Most common symptoms of AXENFELD-RIEGER SYNDROME
- Hearing impairment
- Growth delay
- Hypertelorism
- Failure to thrive
- Sensorineural hearing impairment
More info about AXENFELD-RIEGER SYNDROME
ANTERIOR SEGMENT DYSGENESIS 3; ASGD3
Alternate names
ANTERIOR SEGMENT DYSGENESIS 3; ASGD3 Is also known as irid1, glaucoma iridogoniodysplasia, familial, iris hypoplasia with glaucoma, igda, iridogoniodysgenesis anomaly, autosomal dominant, iridogoniodysgenesis, type 1
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 ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996).Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).
Most common symptoms of ANTERIOR SEGMENT DYSGENESIS 3; ASGD3
- Myopia
- Glaucoma
- Cerebellar vermis hypoplasia
- Ectopia lentis
- Congenital glaucoma
More info about ANTERIOR SEGMENT DYSGENESIS 3; ASGD3
SOURCES: OMIM
ISOLATED ANIRIDIA
Alternate names
ISOLATED ANIRIDIA Is also known as an2, formerly, aniridia ii, formerly, an
Description
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Most common symptoms of ISOLATED ANIRIDIA
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
More info about ISOLATED ANIRIDIA
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
RIEGER ANOMALY
Description
Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld?s anomaly (see this term).
More info about RIEGER ANOMALY
SOURCES: ORPHANET
AXENFELD ANOMALY
Description
Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe?s line and iris bands extending into the cornea. In contrast, Rieger?s anomaly (see this term) includes characteristic iris and pupil anomalies.
More info about AXENFELD ANOMALY
SOURCES: ORPHANET
Search interest in FOXC1
Potential gene panels for FOXC1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelOptic Atrophy and Early Glaucoma Panel Panel
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 panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panelAxenfeld-Rieger syndrome Panel
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 panelAnterior segment defects Panel
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 panelAxenfeld-Rieger syndrome Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Axenfeld-Rieger syndrome that also includes the following genes: FOXC1 PITX2
More info about this panelFOXC1 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the FOXC1 gene.
More info about this panelFOXC1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FOXC1 gene.
More info about this panelFOXC1. Complete sequencing Secuenciación completa Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FOXC1 gene.
More info about this panelAxenfeld-Rieger syndrome (sequence analysis of FOXC1 gene) Panel
By CGC Genetics
This panel specifically test the FOXC1 gene.
More info about this panelAxenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes) Panel
By CGC Genetics Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes) that also includes the following genes: FOXC1 PITX2
More info about this panelPeters anomaly (sequence analysis of FOXC1 gene) Panel
By CGC Genetics
This panel specifically test the FOXC1 gene.
More info about this panelOcular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
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 panelOcular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
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 panelFOXC1-Related Disorders via FOXC1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FOXC1 gene.
More info about this panelAxenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel
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 panelGlaucoma Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panelCataract Panel
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 panelFOXC1 Panel
By MGZ Medical Genetics Center
This panel specifically test the FOXC1 gene.
More info about this panelEye Diseases - panels Panel
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 panelAnterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel
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 panelCataract panel Panel
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 panelAxenfeld-Rieger syndrome type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FOXC1 gene.
More info about this panelIridogoniodysgenesis, type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FOXC1 gene.
More info about this panelRieger syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FOXC1 gene.
More info about this panelRenal Dysplasia, Renal Agenesia, CAKUT Panel Panel
By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A
More info about this panelCongenital Heart Defects Panel Panel
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panelSingle gene testing FOXC1 Panel
By CeGaT GmbH
This panel specifically test the FOXC1 gene.
More info about this panelAnophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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 panelGlaucoma Panel
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 panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelDevelopmental Eye Disease panel Panel
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 panelqGenEx Craniofacial Anomalies Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panelInvitae Congenital Cataracts Panel Panel
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 panelInvitae Axenfeld-Rieger Panel Panel
By Invitae Invitae Axenfeld-Rieger Panel that also includes the following genes: FOXC1 PITX2
More info about this panelInvitae Early-Onset Glaucoma Panel Panel
By Invitae Invitae Early-Onset Glaucoma Panel that also includes the following genes: CYP1B1 FOXC1 PITX2
More info about this panelGlaucoma Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma that also includes the following genes: RPGRIP1 OPTN ASB10 OLFM2 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panelGlaucoma (Advance) Panel
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 panelAnophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelAnophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelHearing Loss: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelGlaucoma NGS Panel Panel
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 panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelFOXC1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FOXC1 gene.
More info about this panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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 panelGlaucoma Panel Panel
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 panelAxenfeld-Rieger syndrome Panel
By Bioarray
This panel specifically test the FOXC1 gene.
More info about this panelAxenfeld-Rieger syndrome Panel
By Bioarray
This panel specifically test the FOXC1 gene.
More info about this panelAXENFELD-RIEGER SYNDROME (RIEGER DISEASE) Panel
By Laboratorio de Genetica Clinica SL AXENFELD-RIEGER SYNDROME (RIEGER DISEASE) that also includes the following genes: FOXC1 PITX2
More info about this panelGLAUCOMA NGS ÀNEL Panel
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 panelAxenfeld-Rieger Syndrome Type 3 , Sequencing FOXC1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FOXC1 gene.
More info about this panelIridogoniodysgenesis Type 1 , Sequencing FOXC1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FOXC1 gene.
More info about this panelAxenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FOXC1 gene.
More info about this panelGlaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel
By Reference Laboratory Genetics Glaucoma , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: RPGRIP1 OPTN ASB10 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36 FOXC1
More info about this panelAnterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes Panel
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
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