FOXN1 gene related symptoms and diseases

All the information presented here about the FOXN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FOXN1 gene

Symptoms // Phenotype % Cases
Immunodeficiency Very Common - Between 80% and 100% cases
Alopecia Very Common - Between 80% and 100% cases
Nail dystrophy Very Common - Between 80% and 100% cases
Hypotrichosis Very Common - Between 80% and 100% cases
Ridged nail Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FOXN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decrease in T cell count
  • Nail pits
  • Severe T-cell immunodeficiency
  • Congenital alopecia totalis
  • Decreased proportion circulating T-helper cells
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Rare diseases associated to FOXN1 gene

Here you will find a list of rare diseases related to the FOXN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALYMPHOID CYSTIC THYMIC DYSGENESIS


Alternate names

ALYMPHOID CYSTIC THYMIC DYSGENESIS Is also known as winged helix deficiency, severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, foxn1 deficiency

Description

Alymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.

Most common symptoms of ALYMPHOID CYSTIC THYMIC DYSGENESIS

  • Immunodeficiency
  • Alopecia
  • Nail dystrophy
  • Hypotrichosis
  • Ridged nail


More info about ALYMPHOID CYSTIC THYMIC DYSGENESIS

SOURCES: ORPHANET OMIM MESH


Potential gene panels for FOXN1 gene

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA

More info about this panel

FOXN1 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 FOXN1 gene.

More info about this panel

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1

More info about this panel

FOXN1 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 FOXN1 gene.

More info about this panel

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficency Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

Severe combined immunodeficiency Del/dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (sequence analysis of FOXN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FOXN1 gene.

More info about this panel

B-positive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1

More info about this panel

Comprehensive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C

More info about this panel

T-cell immunodeficiency, congenital alopecia, and nail dystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FOXN1 gene.

More info about this panel

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel

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

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel

Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG

More info about this panel

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

FOXN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXN1 gene.

More info about this panel

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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel

Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1

More info about this panel


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