Details of Disease

General Information of Disease (ID: DISOLDB2)

Disease Name Autoimmune polyendocrinopathy
Synonyms
autoimmune polyglandular syndrome(s); autoimmune polyglandular syndrome; autoimmune polyendocrinopathy syndrome; autoimmune polyendocrinopathy; autoimmune polyglandular failure; Lloyd's syndrome; Antiphospholipid Syndrome; autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome; APS; autoimmune polyendocrine syndrome
Definition
A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISTWCN9: Autoimmune disorder of endocrine system
DISCSHXL: Polyendocrinopathy
DISOLDB2: Autoimmune polyendocrinopathy
Disease Identifiers
MONDO ID
MONDO_0017278
MESH ID
D016884
UMLS CUI
C0085409
MedGen ID
39042
Orphanet ID
282196
SNOMED CT ID
41864002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 21 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ANXA8 TTSW16P Limited Biomarker [1]
APOBEC3G TTP96KH Limited Biomarker [2]
GP1BA TTVB0Q9 Limited Biomarker [3]
IFNL1 TTM624L Limited Altered Expression [4]
LCT TTA0OSE Limited Biomarker [5]
MUC15 TTGQ6MI Limited Genetic Variation [6]
CPB2 TTP18AY moderate Biomarker [7]
F2 TT6L509 moderate Biomarker [8]
F3 TT38MDJ moderate Biomarker [9]
GPI TT19JIZ moderate Biomarker [10]
KLK3 TTS78AZ moderate Biomarker [11]
NOD2 TTYPUHA moderate Genetic Variation [12]
TLR7 TTRJ1K4 moderate Biomarker [13]
ADH1A TT5AHZ0 Strong Altered Expression [14]
ANXA5 TT2Z83I Strong Biomarker [15]
F5 TT1O264 Strong Genetic Variation [16]
FOXP3 TT1X3QF Strong Biomarker [17]
MARK2 TTAJ45Y Strong Biomarker [18]
SELPLG TTS5K8U Strong Biomarker [19]
SLC52A2 TT6TKEN Strong Biomarker [18]
TFPI TT068JH Strong Biomarker [20]
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⏷ Show the Full List of 21 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC20A1 DTMULXV Strong Biomarker [21]
SLC52A1 DT7NOKR Strong Biomarker [18]
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This Disease Is Related to 23 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASPRV1 OT8WVIBW Limited Biomarker [22]
BHLHA15 OTY7IER8 Limited Altered Expression [23]
C1D OTI9PMN1 Limited Genetic Variation [24]
CAPS OTC9GZ2M Limited Genetic Variation [25]
CLIP2 OTSCIQIY Limited Altered Expression [26]
COX3 OTNNGBYJ Limited Genetic Variation [27]
GTPBP1 OTA9KV6C Limited Biomarker [28]
GYPB OTESHUIX Limited Genetic Variation [6]
H3C1 OTGBGOZW Limited Biomarker [29]
IFI44L OTXKORJP Limited Genetic Variation [30]
NPHP1 OTZHCFFQ Limited Biomarker [31]
NXPH1 OTGKX860 Limited Biomarker [31]
PF4V1 OT2CXM6L Limited Biomarker [32]
PLSCR1 OTGY9B5T Limited Altered Expression [33]
AIRE OTA7G1Y1 moderate Biomarker [34]
SH2B2 OTEDHHDH moderate Biomarker [11]
CDR2 OTD3ZJST Strong Altered Expression [14]
HLA-DRB4 OTNXIHQU Strong Biomarker [35]
LRP8 OTZ71YV2 Strong Biomarker [36]
NUDT11 OTFDXJA1 Strong Biomarker [37]
POU1F1 OTXT8A5C Strong Biomarker [21]
RBM45 OTWTHD77 Strong Biomarker [38]
NUDT10 OT61XMYC Definitive Genetic Variation [39]
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⏷ Show the Full List of 23 DOT(s)

References

1 Detection of annexin A8 antibodies in serum of patients with antiphospholipid syndrome.Biochem Med (Zagreb). 2018 Oct 15;28(3):030703. doi: 10.11613/BM.2018.030703.
2 Induction of heat-shock protein 70 by prostaglandin A?inhibits HIV-1 Vif-mediated degradation of APOBEC3G.Antiviral Res. 2013 Sep;99(3):307-11. doi: 10.1016/j.antiviral.2013.06.017. Epub 2013 Jul 4.
3 The class I phosphoinositide 3-kinases and control antiphospholipid antibodies-induced platelet activation.Thromb Haemost. 2016 Jun 2;115(6):1138-46. doi: 10.1160/TH15-08-0661. Epub 2016 Jan 28.
4 Independent association of low IFN1 gene expression and type I IFN score/IFN1 ratio with obstetric manifestations and triple antiphospholipid antibody positivity in primary antiphospholipid syndrome.Clin Immunol. 2019 Dec;209:108265. doi: 10.1016/j.clim.2019.108265. Epub 2019 Oct 19.
5 Identification of high thrombotic risk triple-positive antiphospholipid syndrome patients is dependent on anti-cardiolipin and anti-2glycoprotein I antibody detection assays.J Thromb Haemost. 2018 Oct;16(10):2016-2023. doi: 10.1111/jth.14261. Epub 2018 Aug 24.
6 Serum Thyroid Hormone Antibodies Are Frequent in Patients with Polyglandular Autoimmune Syndrome Type 3, Particularly in Those Who Require Thyroxine Treatment.Front Endocrinol (Lausanne). 2017 Aug 28;8:212. doi: 10.3389/fendo.2017.00212. eCollection 2017.
7 Thrombin activatable fibrinolysis inhibitor (TAFI) - A possible link between coagulation and complement activation in the antiphospholipid syndrome (APS).Thromb Res. 2017 Oct;158:168-173. doi: 10.1016/j.thromres.2017.06.028. Epub 2017 Jun 24.
8 Study of clinical utility of antibodies to phosphatidylserine/prothrombin complex in Asian-Indian patients with suspected APS.Clin Rheumatol. 2019 Feb;38(2):545-553. doi: 10.1007/s10067-018-4301-1. Epub 2018 Sep 26.
9 Dilute Russell viper venom time interpretation and clinical correlation: A two-year retrospective institutional review.Int J Lab Hematol. 2019 Feb;41(1):80-86. doi: 10.1111/ijlh.12925. Epub 2018 Sep 8.
10 Blood Cell-Bound C4d as a Marker of Complement Activation in Patients With the Antiphospholipid Syndrome.Front Immunol. 2019 Apr 12;10:773. doi: 10.3389/fimmu.2019.00773. eCollection 2019.
11 Neutrophil extracellular trap release is associated with antinuclear antibodies in systemic lupus erythematosus and anti-phospholipid syndrome.Rheumatology (Oxford). 2018 Jul 1;57(7):1228-1234. doi: 10.1093/rheumatology/key067.
12 Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.J Bone Miner Res. 2018 Nov;33(11):2071-2080. doi: 10.1002/jbmr.3532. Epub 2018 Jul 30.
13 Circulating plasmablasts contribute to antiphospholipid antibody production, associated with type I interferon upregulation.J Thromb Haemost. 2019 Jul;17(7):1134-1143. doi: 10.1111/jth.14427. Epub 2019 Mar 30.
14 ADH1 expression inversely correlates with CDR1 and CDR2 in Candida albicans from chronic oral candidosis in APECED (APS-I) patients.FEMS Yeast Res. 2011 Sep;11(6):494-8. doi: 10.1111/j.1567-1364.2011.00739.x. Epub 2011 Jun 16.
15 Reduction of annexin A5 anticoagulant ratio identifies antiphospholipid antibody-positive patients with adverse clinical outcomes.J Thromb Haemost. 2017 Jul;15(7):1412-1421. doi: 10.1111/jth.13699. Epub 2017 Jun 12.
16 Can inherited thrombophilia modulate the clinical phenotype of patients with antiphospholipid syndrome?.Clin Exp Rheumatol. 2013 Nov-Dec;31(6):926-32. Epub 2013 Sep 30.
17 Oxidative stress and Treg depletion in lupus patients with anti-phospholipid syndrome.Clin Immunol. 2015 Jun;158(2):148-52. doi: 10.1016/j.clim.2015.03.024. Epub 2015 Apr 8.
18 Factor Xa Mediates Calcium Flux in Endothelial Cells and is Potentiated by Igg From Patients With Lupus and/or Antiphospholipid Syndrome.Sci Rep. 2017 Sep 7;7(1):10788. doi: 10.1038/s41598-017-11315-9.
19 Activated signature of antiphospholipid syndrome neutrophils reveals potential therapeutic target.JCI Insight. 2017 Sep 21;2(18):e93897. doi: 10.1172/jci.insight.93897. eCollection 2017 Sep 21.
20 Antibodies against TFPI and protein C are associated with a severe thrombotic phenotype in patients with and without antiphospholipid syndrome.Thromb Res. 2018 Oct;170:60-68. doi: 10.1016/j.thromres.2018.08.003. Epub 2018 Aug 7.
21 Anti-PIT-1 antibody syndrome; a novel clinical entity leading to hypopituitarism.Pediatr Endocrinol Rev. 2015 Mar;12(3):290-6.
22 Pregnancy Outcome in Women with Obstetric and Thrombotic Antiphospholipid Syndrome-A Retrospective Analysis and a Review of Additional Treatment in Pregnancy.Clin Rev Allergy Immunol. 2017 Aug;53(1):54-67. doi: 10.1007/s12016-016-8569-0.
23 Gastric adenocarcinoma of the fundic gland type shares common genetic and phenotypic features with pyloric gland adenoma.Pathol Int. 2013 Jun;63(6):318-25. doi: 10.1111/pin.12070.
24 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.J Hum Genet. 2017 Sep;62(9):831-838. doi: 10.1038/jhg.2017.46. Epub 2017 Apr 20.
25 Complement activity and complement regulatory gene mutations are associated with thrombosis in APS and CAPS.Blood. 2020 Jan 23;135(4):239-251. doi: 10.1182/blood.2019003863.
26 Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome.Blood. 2014 Dec 11;124(25):3808-16. doi: 10.1182/blood-2014-05-577569. Epub 2014 Oct 9.
27 Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.Mitochondrion. 2009 Apr;9(2):123-9. doi: 10.1016/j.mito.2009.01.006. Epub 2009 Jan 21.
28 Effect and mechanism of the a2GP I/rh2GP I complex on JEG? cell proliferation, migration and invasion.Mol Med Rep. 2018 Jun;17(6):7505-7512. doi: 10.3892/mmr.2018.8822. Epub 2018 Mar 29.
29 In Vivo Role of Neutrophil Extracellular Traps in Antiphospholipid Antibody-Mediated Venous Thrombosis.Arthritis Rheumatol. 2017 Mar;69(3):655-667. doi: 10.1002/art.39938.
30 Genome-wide DNA methylation analysis in primary antiphospholipid syndrome neutrophils.Clin Immunol. 2018 Nov;196:110-116. doi: 10.1016/j.clim.2018.11.011. Epub 2018 Nov 22.
31 Beneficial effects of astragalus polysaccharides treatment on cardiac chymase activities and cardiomyopathy in diabetic hamsters.Acta Diabetol. 2010 Dec;47 Suppl 1:35-46. doi: 10.1007/s00592-009-0116-5. Epub 2009 Apr 7.
32 The role of platelets in antiphospholipid syndrome.Platelets. 2017 Dec;28(8):762-766. doi: 10.1080/09537104.2017.1280150. Epub 2017 Mar 7.
33 Phospholipid scramblase 1 expression is enhanced in patients with antiphospholipid syndrome.Mod Rheumatol. 2013 Jan;23(1):81-8. doi: 10.1007/s10165-012-0642-9. Epub 2012 Apr 24.
34 Autoimmune Polyendocrinopathy.J Clin Endocrinol Metab. 2019 Oct 1;104(10):4769-4782. doi: 10.1210/jc.2019-00602.
35 HLA antigen expression in autoimmune endocrinopathies.Physiol Res. 2004;53(2):191-7.
36 Antiphospholipid antibodies induce thrombosis by PP2A activation via apoER2-Dab2-SHC1 complex formation in endothelium.Blood. 2018 May 10;131(19):2097-2110. doi: 10.1182/blood-2017-11-814681. Epub 2018 Mar 2.
37 AIRE is not essential for the induction of human tolerogenic dendritic cells.Autoimmunity. 2016 Jun;49(4):211-8. doi: 10.3109/08916934.2016.1148692. Epub 2016 Feb 25.
38 HLA class II haplotypes differentiate between the adult autoimmune polyglandular syndrome types II and III.J Clin Endocrinol Metab. 2014 Jan;99(1):E177-82. doi: 10.1210/jc.2013-2852. Epub 2013 Dec 20.
39 A rare case of autoimmune polyglandular syndrome with Sjgren's syndrome and primary hypoparathyroidism.BMJ Case Rep. 2019 May 27;12(5):e228634. doi: 10.1136/bcr-2018-228634.