Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia; Aps1

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia; Aps1

  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment
  • Nevus
  • Renal insufficiency
  • Diarrhea
  • Rod-cone dystrophy
  • Alopecia
  • Diabetes mellitus
And another 54 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia; Aps1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AIRE Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AIRE
Specificity
100 %
Genes
100 %
AIRE Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

AIRE
Specificity
100 %
Genes
100 %
AIRE Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

AIRE
Specificity
100 %
Genes
100 %
Primary Adrenal Insufficiency Evaluation.

By Athena Diagnostics Inc in United States.

ABCD1, AIRE, NR0B1
Specificity
34 %
Genes
100 %
Autoimmune Polyglandular Syndrome (AIRE) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune Polyglandular Syndrome Type 1 (APS1/APECED): AIRE (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

AIRE
Specificity
100 %
Genes
100 %
AIRE Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

AIRE
Specificity
100 %
Genes
100 %
AIRE Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

AIRE
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
6 %
Genes
100 %
AIRE. Sequencing of the exons 2, 3, 6, 8 and 10.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

AIRE
Specificity
100 %
Genes
100 %
AIRE. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene).

By CGC Genetics in Portugal.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene).

By CGC Genetics in Portugal.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune polyglandular syndrome (deletions/duplications analysis of AIRE gene).

By CGC Genetics in Portugal.

AIRE
Specificity
100 %
Genes
100 %
APECED syndrome, AIRE gene Finnish mutation analysis.

By Laboratory of Genetics HUSLAB in Finland.

AIRE
Specificity
100 %
Genes
100 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
7 %
Genes
100 %
Autoimmune Polyendocrinopathy Syndrome Type 1 via AIRE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIRE
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FOXL2, GALT, CYP17A1, AIRE, EIF2B5, LMNA, EIF2B2, EIF2B4, CLPP, NR5A1, CYP19A1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MCM9, SOHLH1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Aire Gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

AIRE
Specificity
100 %
Genes
100 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH
Specificity
9 %
Genes
100 %
Candidiasis (CMC) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

STAT1, TLR3, AIRE, IL17F, IL2RA, IL17RA
Specificity
17 %
Genes
100 %
Autoimmune polyendocrinopathy syndrome type I.

By Centogene AG - the Rare Disease Company in Germany.

AIRE
Specificity
100 %
Genes
100 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

TYROBP, POLG, PANK2, CA2, GALC, AIRE, BRAF, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, GATA3, ERCC6, IFIH1, ADAR, CTC1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Autoimmune Polyendocrinopathy Syndrome Type 1, AIRE.

By GGA - Galil Genetic Analysis in Israel.

AIRE
Specificity
100 %
Genes
100 %
AIRE.

By Division Human Genetics Medical University Innsbruck in Austria.

AIRE
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Polyendocrinopathy syndrome type I, Autoinmmune: AIRE gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AIRE
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Achalasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FLVCR1, AIRE, ACTB, AAAS, GUCY1A1, GMPPA
Specificity
17 %
Genes
100 %
AIRE.

By Fulgent Genetics Fulgent Genetics in United States.

AIRE
Specificity
100 %
Genes
100 %
Hyperparathyroidism Panel.

By Blueprint Genetics in Finland.

RET, MEN1, AIRE, CDC73, CASR, CDKN1B, GNA11, AP2S1, PTH, GCM2, CDKN2B, CDKN2C, CDKN1A
Specificity
8 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Autoimmune polyendocrinopathy type 1.

By Bioarray in Spain.

AIRE
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

AIRE
Specificity
100 %
Genes
100 %
Autoimmune Polyendocrinopathy Syndrome Type 1, Sequencing AIRE Gene.

By Reference Laboratory Genetics in Spain.

AIRE
Specificity
100 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia; Aps1 Is also known as aps i, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;apeced, autoimmune polyglandular syndrome, type i, polyglandular autoimmune syndrome, type i, pga i, hypoadrenocorticism with hypoparathyroidism and superficial moniliasis;apeced syndrome; aps type 1; aps1; autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome; autoimmune polyendocrine syndrome type 1; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; autoimmune polyglandular syndrome type 1; ham syndrome; hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome; medac syndrome; multiple endocrine deficiency-addison disease-candidiasis syndrome.



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