AIRE gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to AIRE gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Thyroiditis Uncommon - Between 30% and 50% cases
Adrenal hyperplasia Uncommon - Between 30% and 50% cases
Chronic sinusitis Uncommon - Between 30% and 50% cases
Increased circulating cortisol level Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Hypoparathyroidism
  • Vitiligo
  • Primary adrenal insufficiency
  • Metaphyseal dysplasia
  • Asplenia
  • Macular atrophy
  • Abnormality of the thyroid gland
  • Adrenal insufficiency

And 64 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AIRE gene

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


AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Alternate names

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, apeced, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome, apeced syndrome, polyglandular autoimmu

Description

Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

Most common symptoms of AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

SOURCES: OMIM ORPHANET

FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION



More info about FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION

SOURCES: ORPHANET


Potential gene panels for AIRE gene

AIRE Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AIRE gene.

More info about this panel

AIRE Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AIRE gene.

More info about this panel

AIRE Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the AIRE gene.

More info about this panel

Primary Adrenal Insufficiency Evaluation Panel

United States.

By Athena Diagnostics Inc Primary Adrenal Insufficiency Evaluation that also includes the following genes: AIRE ABCD1 NR0B1

More info about this panel

Autoimmune Polyglandular Syndrome (AIRE) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Known Mutation) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the AIRE gene.

More info about this panel

AIRE 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 AIRE gene.

More info about this panel

AIRE 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 AIRE gene.

More info about this panel

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

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

Hypoparathyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

Hypoparathyroidism sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

AIRE. Sequencing of the exons 2, 3, 6, 8 and 10 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AIRE gene.

More info about this panel

AIRE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AIRE gene.

More info about this panel

APECED syndrome, AIRE gene Finnish mutation analysis Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the AIRE gene.

More info about this panel

Hypoparathyroidism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS

More info about this panel

Autoimmune Polyendocrinopathy Syndrome Type 1 via AIRE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AIRE gene.

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

More info about this panel

Aire Gene Panel

United States.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute

This panel specifically test the AIRE gene.

More info about this panel

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

Candidiasis (CMC) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Candidiasis (CMC) panel that also includes the following genes: STAT1 TLR3 IL17F AIRE IL17RA IL2RA

More info about this panel

Autoimmune polyendocrinopathy syndrome type I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AIRE gene.

More info about this panel

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

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

Autoimmune Polyendocrinopathy Syndrome Type 1, AIRE Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the AIRE gene.

More info about this panel

AIRE Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the AIRE gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

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

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

Polyendocrinopathy syndrome type I, Autoinmmune: AIRE gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AIRE gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Achalasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achalasia: Sequencing Panel that also includes the following genes: ACTB AAAS GMPPA FLVCR1 AIRE GUCY1A1

More info about this panel

AIRE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AIRE gene.

More info about this panel

Hyperparathyroidism Panel Panel

Finland.

By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1

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

Autoimmune polyendocrinopathy type 1 Panel

Spain.

By Bioarray

This panel specifically test the AIRE gene.

More info about this panel

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AIRE gene.

More info about this panel

Autoimmune Polyendocrinopathy Syndrome Type 1, Sequencing AIRE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AIRE gene.

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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