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.
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
FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION
Search interest in AIRE
Potential gene panels for AIRE gene
AIRE Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the AIRE gene.
More info about this panelAIRE Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the AIRE gene.
More info about this panelAIRE Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the AIRE gene.
More info about this panelPrimary Adrenal Insufficiency Evaluation Panel
By Athena Diagnostics Inc Primary Adrenal Insufficiency Evaluation that also includes the following genes: AIRE ABCD1 NR0B1
More info about this panelAutoimmune Polyglandular Syndrome (AIRE) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the AIRE gene.
More info about this panelAutoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Full Gene Sequencing) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the AIRE gene.
More info about this panelAutoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Known Mutation) Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the AIRE gene.
More info about this panelAIRE Sequencing Panel
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 panelAIRE Deletion/duplication analysis Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
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 panelHypoparathyroidism Deletion/Duplication Panel Panel
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 panelHypoparathyroidism sequencing panel Panel
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 panelAIRE. Sequencing of the exons 2, 3, 6, 8 and 10 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AIRE gene.
More info about this panelAIRE. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AIRE gene.
More info about this panelAutoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene) Panel
By CGC Genetics
This panel specifically test the AIRE gene.
More info about this panelAutoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene) Panel
By CGC Genetics
This panel specifically test the AIRE gene.
More info about this panelAutoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene) Panel
By CGC Genetics
This panel specifically test the AIRE gene.
More info about this panelAPECED syndrome, AIRE gene Finnish mutation analysis Panel
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the AIRE gene.
More info about this panelHypoparathyroidism Sequencing Panel with CNV Detection Panel
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 panelAutoimmune Polyendocrinopathy Syndrome Type 1 via AIRE Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AIRE gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
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 panelMale Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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 panelPremature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
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 panelAire Gene Panel
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the AIRE gene.
More info about this panelALPS/autoimmunity panel Panel
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 panelCandidiasis (CMC) panel Panel
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 panelAutoimmune polyendocrinopathy syndrome type I Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AIRE gene.
More info about this panelBasal ganglia calcification Panel Panel
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 panelImmune dysregulation Panel Panel
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 panelAutoimmune Polyendocrinopathy Syndrome Type 1, AIRE Panel
By GGA - Galil Genetic Analysis
This panel specifically test the AIRE gene.
More info about this panelAIRE Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the AIRE gene.
More info about this panelFamily Prep Screen Panel
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 panelqCarrier Plus Panel
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 panelInvitae Monogenic Autoimmunity Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelPolyendocrinopathy syndrome type I, Autoinmmune: AIRE gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AIRE gene.
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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 panelAchalasia: Sequencing Panel Panel
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 panelAIRE Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AIRE gene.
More info about this panelHyperparathyroidism Panel Panel
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 panelPrimary Immunodeficiency Panel Panel
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 panelAutoimmune polyendocrinopathy type 1 Panel
By Bioarray
This panel specifically test the AIRE gene.
More info about this panelAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AIRE gene.
More info about this panelAutoimmune Polyendocrinopathy Syndrome Type 1, Sequencing AIRE Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AIRE gene.
More info about this panelplanTrue Extended Panel
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 panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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
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