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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM 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

SOURCES: OMIM ORPHANET

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


Potential gene panels for FOXC1 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

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

Hearing Loss Panel Panel

United States.

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 panel

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

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

Axenfeld-Rieger syndrome Panel

Denmark.

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 panel

FOXC1 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the FOXC1 gene.

More info about this panel

FOXC1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FOXC1 gene.

More info about this panel

FOXC1. Complete sequencing Secuenciación completa Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FOXC1 gene.

More info about this panel

Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes) Panel

Portugal.

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 panel

Peters anomaly (sequence analysis of FOXC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

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

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

FOXC1-Related Disorders via FOXC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FOXC1 gene.

More info about this panel

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

Glaucoma Sequencing Panel with CNV Detection Panel

United States.

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 panel

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

FOXC1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FOXC1 gene.

More info about this panel

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

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

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

Axenfeld-Rieger syndrome type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXC1 gene.

More info about this panel

Iridogoniodysgenesis, type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXC1 gene.

More info about this panel

Rieger syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXC1 gene.

More info about this panel

Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel

Germany.

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 panel

Congenital Heart Defects Panel Panel

Germany.

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 panel

Single gene testing FOXC1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FOXC1 gene.

More info about this panel

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

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

Cardiovascular Diseases_General Panel Panel

Spain.

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 panel

Congenital heart diseases Panel Panel

Spain.

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 panel

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

qGenEx Craniofacial Anomalies Panel

Spain.

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 panel

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

Invitae Axenfeld-Rieger Panel Panel

United States.

By Invitae Invitae Axenfeld-Rieger Panel that also includes the following genes: FOXC1 PITX2

More info about this panel

Invitae Early-Onset Glaucoma Panel Panel

United States.

By Invitae Invitae Early-Onset Glaucoma Panel that also includes the following genes: CYP1B1 FOXC1 PITX2

More info about this panel

Glaucoma Panel

Spain.

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 panel

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

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

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

Hearing Loss: Sequencing Panel Panel

United States.

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 panel

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

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

Hearing Loss: Deletion/Duplication Panel Panel

United States.

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 panel

Eye Disorders NGS Panel Panel

United States.

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 panel

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

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Nuclear-Mito NGS Panel Panel

United States.

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 panel

FOXC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

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

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

Axenfeld-Rieger syndrome Panel

Spain.

By Bioarray

This panel specifically test the FOXC1 gene.

More info about this panel

Axenfeld-Rieger syndrome Panel

Spain.

By Bioarray

This panel specifically test the FOXC1 gene.

More info about this panel

AXENFELD-RIEGER SYNDROME (RIEGER DISEASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL AXENFELD-RIEGER SYNDROME (RIEGER DISEASE) that also includes the following genes: FOXC1 PITX2

More info about this panel

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

Axenfeld-Rieger Syndrome Type 3 , Sequencing FOXC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

Iridogoniodysgenesis Type 1 , Sequencing FOXC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

Axenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXC1 gene.

More info about this panel

Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

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 panel

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


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