FOXC2 gene related symptoms and diseases

All the information presented here about the FOXC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FOXC2 gene

Symptoms // Phenotype % Cases
Arrhythmia Very Common - Between 80% and 100% cases
Muscle weakness Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Very Common - Between 80% and 100% cases
Patent ductus arteriosus Very Common - Between 80% and 100% cases
Hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FOXC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Bruising susceptibility
  • Cleft upper lip
  • Paresthesia
  • Abnormality of the liver
  • Proteinuria
  • Anxiety
  • Photophobia
  • Diabetes mellitus

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FOXC2 gene

Here you will find a list of rare diseases related to the FOXC2. 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

LYMPHEDEMA-DISTICHIASIS SYNDROME


Alternate names

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Description

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

Most common symptoms of LYMPHEDEMA-DISTICHIASIS SYNDROME

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for FOXC2 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1

More info about this panel

FOXC2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FOXC2 gene.

More info about this panel

Lymphedema-distichiasis syndrome (sequence analysis of FOXC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXC2 gene.

More info about this panel

Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region) Panel

Portugal.

By CGC Genetics Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region) that also includes the following genes: FOXC2 FOXF1 MYCN

More info about this panel

Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region) Panel

Portugal.

By CGC Genetics Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region) that also includes the following genes: FOXC2 FOXF1 MYCN

More info about this panel

Lymphedema Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Lymphedema Sequencing Panel with CNV Detection that also includes the following genes: SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 GJA1

More info about this panel

Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FOXC2 gene.

More info about this panel

Lymphedema-distichiasis syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXC2 gene.

More info about this panel

Vascular and lymphatic disorders Panel Panel

Germany.

By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1

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

Primary lymphedema and Hydrops fetalis Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2

More info about this panel

Lymphedema-distichiasis syndrome: FOXC2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FOXC2 gene.

More info about this panel

LYMPHEDEMA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LYMPHEDEMA that also includes the following genes: SOX18 ZMPSTE24 GJC2 CCBE1 FLT4 FOXC2 GATA2 KIF11 LMNA

More info about this panel

FOXC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXC2 gene.

More info about this panel

Renal Malformation Panel Panel

Finland.

By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2

More info about this panel

Lymphatic Malformations and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Lymphatic Malformations and Related Disorders Panel that also includes the following genes: SOX18 GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 KIF11 PIK3CA

More info about this panel

Lymphedema - distichiasis Panel

Spain.

By Bioarray

This panel specifically test the FOXC2 gene.

More info about this panel

LYMPHEDEMA-DISTICHIASIS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FOXC2 gene.

More info about this panel

Lymphedema-Distichiasis Syndrome , Sequencing FOXC2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXC2 gene.

More info about this panel

Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SOX18 VEGFC ZMPSTE24 FLT4 FOXC2 GATA2 KIF11

More info about this panel

Lymphedema-Distichiasis Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FOXC2 gene.

More info about this panel


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