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.

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

AIRE

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.

Click here to know more about Mendelian.

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 Panel GTR000560755 complete gene list NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57 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 Panel GTR000501103 complete gene list NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57 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 Panel GTR000553211 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AIRE, AR, ARX, CHD7, EIF2B1, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, EIF2B5, LMNA, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, CLPP, SOX10, SEMA3E, SOX3, POR, SOX9, NR5A1, HSD17B3, LHX4, LHX3, SRD5A2, CYP19A1, IL17RD, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, FEZF1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MAMLD1, LHB, FSHB, FGF17, WDR11, TAC3, KISS1, NR3C1, FLRT3, DUSP6, SPRY4, HS6ST1, NUP107, ZP1, MCM9, AXL, CCDC141, SYCE1, DMRT1, DMRT2, SOHLH1, PADI6, PRLR, STAG3, AKR1C4, CBX2 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 Panel GTR000553213 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AIRE, AR, ARX, CFTR, CHD7, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, SOX10, SEMA3E, SOX3, POR, SOX9, DNAH1, SYCP3, NR5A1, ADGRG2, HSD17B3, LHX4, LHX3, SRD5A2, GATA4, CYP19A1, IL17RD, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, FEZF1, MAMLD1, AMH, AMHR2, LHB, FSHB, FGF17, WDR11, TAC3, KISS1, SPATA16, PICK1, AURKC, NANOS1, CATSPER1, FLRT3, DUSP6, SPRY4, HS6ST1, AXL, CCDC141, SYCE1, DMRT1, DMRT2, AKR1C4, CBX2, BRDT, CFAP44, CFAP43, INSL3, KLHL10, PLCZ1, TAF4B, NPAS2, SEPT12, SLC26A8, TEX11, SUN5, ZMYND15, GALNTL5 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 Panel GTR000553215 complete gene list HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, FGFR3, AIRE, AR, ARX, CFTR, CHD7, CREBBP, DHCR7, EIF2B1, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, EIF2B5, FIG4, LMNA, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, FLNA, ATRX, OPHN1, SETBP1, ZEB2, SALL1, CLPP, SOX10, SEMA3E, MID1, MED12, FAT4, WDR35, SOX3, POR, SOX9, PCNT, GLI3, TP63, DNAH1, FBXL4, RIPK4, SYCP3, NR5A1, FGF10, ADGRG2, HSD17B3, LHX4, LHX3, SRD5A2, EFNB1, GATA4, CEP41, EVC, EVC2, RBBP8, DHCR24, BMP4, B3GLCT, EPG5, UBR1, WNT5A, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MAMLD1, AMH, AMHR2, LHB, FSHB, FGF17, WDR11, TAC3, CUL7, PDE4D, PTDSS1, KISS1, TRAIP, TWIST2, NR3C1, SPATA16, PICK1, AURKC, NANOS1, CATSPER1, FLRT3, DUSP6, SPRY4, HS6ST1, NUP107, ZP1, MCM9, BMP7, HOXB6, HOXA4, AXL, CCDC141, SYCE1, DMRT1, DMRT2, SOHLH1, PADI6, PRLR, STAG3, AKR1C4, CBX2, BRDT, CFAP44, CFAP43, INSL3, KLHL10, PLCZ1, TAF4B, NPAS2, SEPT12, SLC26A8, TEX11, SUN5, ZMYND15, GALNTL5, HHAT, BNC2, ATF3, TOE1, CHD4 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 Panel GTR000558554 complete gene list FOXL2, GALT, CYP17A1, AIRE, EIF2B5, LMNA, EIF2B2, EIF2B4, CLPP, NR5A1, CYP19A1, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MCM9, SOHLH1, STAG3 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 Panel GTR000522491 complete gene list TYROBP, POLG, PANK2, CA2, GALC, AIRE, BRAF, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, GATA3, ERCC6, IFIH1, ADAR, CTC1, TREM2, SLC20A2, ERCC8, TBCE, PDGFRB, PDGFB, XPR1 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 Panel GTR000528899 complete gene list CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH, FCGR2B, AOAH 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 Panel GTR000552033 complete gene list F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE 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 Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 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 Panel GTR000553746 complete gene list STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5 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 Panel GTR000553783 complete gene list PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7 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 Panel GTR000523283 complete gene list FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 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 Panel GTR000552725 complete gene list PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B 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 Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 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 Panel GTR000561192 complete gene list FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD 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 Panel GTR000560383 complete gene list HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 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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