FOXP3 gene related symptoms and diseases

All the information presented here about the FOXP3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FOXP3 gene

Symptoms // Phenotype % Cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases
Sepsis Uncommon - Between 30% and 50% cases
Cardiac arrest Uncommon - Between 30% and 50% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FOXP3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nephrotic syndrome
  • Hepatitis
  • Eczema
  • Lymphadenopathy
  • Hemolytic anemia
  • Abnormal intestine morphology
  • Autoimmunity
  • Arthritis

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FOXP3 gene

Here you will find a list of rare diseases related to the FOXP3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Alternate names

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy, ipex, autoimmune enteropathy type 1, iddm-secretory diarrhea syndrome, x-linked autoimmunity-allergic dysregulation syndrome, polyendocrinopathy, immune dysfunction, and diarrhea, x-linked,

Description

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

Most common symptoms of IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for FOXP3 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
United States.

Maturity-Onset Diabetes of the Young Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP

More info about this panel
United States.

FOXP3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

FOXP3 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel
United States.

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel
United States.

FOXP3 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

Comprehensive Neonatal Diabetes Mutation Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3

More info about this panel
United States.

FOXP3 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11

More info about this panel
United States.

Neonatal Diabetes Mellitus Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1

More info about this panel
United States.

FOXP3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FOXP3 gene.

More info about this panel
Germany.

FOXP3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FOXP3 gene.

More info about this panel
Germany.

FOXP3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FOXP3 gene.

More info about this panel
Spain.

Immunodysregulation, polyendocrinopathy and enteropathy, X-linked (sequence analysis of FOXP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXP3 gene.

More info about this panel
Portugal.

IPEX syndrome (sequence analysis of FOXP3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXP3 gene.

More info about this panel
Portugal.

FOXP3 mutation analysis Panel

Germany.

By Hehr Laboratory Center for Human Genetics - University of Regensburg

This panel specifically test the FOXP3 gene.

More info about this panel
Germany.

IPEX Syndrome Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the FOXP3 gene.

More info about this panel
United Kingdom.

Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

FOXP3 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the FOXP3 gene.

More info about this panel
Slovakia.

IPEX Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the FOXP3 gene.

More info about this panel
Germany.

FOXP3 gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

ALPS/autoimmunity panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht ALPS/autoimmunity panel that also includes the following genes: FAS FASLG ITCH CASP10 CASP8 LRBA FADD AIRE IL2RA FOXP3

More info about this panel
Netherlands.

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXP3 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Immune dysregulation Panel Panel

Germany.

By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11

More info about this panel
Germany.

IPEX syndrome, FOXP3 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

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
Spain.

Maturity-onsetdiabetes of the youngMODY Panel

Spain.

By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4

More info about this panel
Spain.

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel
Spain.

FOXP3 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the FOXP3 gene.

More info about this panel
Colombia.

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel
United States.

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel
United States.

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel
United States.

Diabetes mellitus, neonatal permanent Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel
Spain.

Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

More info about this panel
United States.

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel
United States.

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6

More info about this panel
United States.

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel
United States.

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel
United States.

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel
United States.

FOXP3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

More info about this panel
Finland.

X-linked immune dysregulation - polyendocrinopathy - enteropathy Panel

Spain.

By Bioarray

This panel specifically test the FOXP3 gene.

More info about this panel
Spain.

FOXP3 Gene Sequencing and Deletion/Duplication analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the FOXP3 gene.

More info about this panel
United States.

Monogenic Diabetes NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL

More info about this panel
United States.

Immune Report Card Panel

United States.

By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9

More info about this panel
United States.

IPEX  SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FOXP3 gene.

More info about this panel
Spain.

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel
Spain.

X-Linked Poliendocrinopathy-Enteropathy-Inmune Disfunction, Sequencing FOXP3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FOXP3 gene.

More info about this panel
Spain.

Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel
Spain.

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel
Spain.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

IPEX Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FOXP3 gene.

More info about this panel
Canada.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PMM2 CD46 NUBPL NEK1 SRPX2 AKT2