APS
MCID: ATM019
MIFTS: 47

Autoimmune Polyendocrine Syndrome (APS)

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Autoimmune Polyendocrine Syndrome

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 11 14 75
Autoimmune Polyglandular Failure 11 31 33
Autoimmune Polyendocrinopathy 11 58 33
Autoimmune Polyglandular Syndrome 58 33
Polyendocrinopathies, Autoimmune 43 71
Thyroid-Adrenocortical Insufficiency Syndrome 33
Progressive Pluriglandular Insufficiency 33
Polyendocrine Autoimmunity Syndrome 33
Polyglandular Autoimmune Deficiency 33
Pluriglandular Autoimmune Syndrome 33
Pluriglandular Autoimmune Atrophy 33
Polyendocrinopathies Autoimmune 53
Lloyd's Syndrome 11
Lloyd Syndrome 33
Aps 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:14040
MeSH 43 D016884
NCIt 49 C84576
SNOMED-CT 68 41864002
ICD10 31 E31.0
ICD10 via Orphanet 32 E31.0
UMLS via Orphanet 72 C0085409
Orphanet 58 ORPHA282196
ICD11 33 548357900
UMLS 71 C0085409

Summaries for Autoimmune Polyendocrine Syndrome

Orphanet: 58 A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.

MalaCards based summary: Autoimmune Polyendocrine Syndrome, also known as autoimmune polyglandular failure, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Innate Immune System and Immune response IL-23 signaling pathway. The drugs Hydroxyurea and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, t cells and thymus, and related phenotypes are homeostasis/metabolism and immune system

Disease Ontology: 11 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Wikipedia: 75 Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or... more...

Related Diseases for Autoimmune Polyendocrine Syndrome

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 708)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 33.2 NUDT10 GAD2 CCR6 AIRE
2 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.9 GAD2 CYP11A1 CASR AIRE
3 hypoadrenocorticism, familial 31.7 CYP11A1 CCR6 AIRE
4 polyendocrinopathy 31.5 FOXP3 AIRE
5 type 1 diabetes mellitus 31.1 IL17A ICOSLG GAD2 FOXP3 CCR6 AIRE
6 hashimoto thyroiditis 31.0 ICOSLG GAD2 CD4 CCR6 AIRE
7 autoimmune disease 31.0 IL17F IL17A ICOSLG GAD2 FOXP3 CCR6
8 candidiasis 30.9 STAT1 IL17RA IL17F IL17A CLEC7A CARD9
9 vitiligo-associated multiple autoimmune disease susceptibility 1 30.8 IL17A ICOSLG FOXP3 CD4 CCR6 AIRE
10 autoimmune polyendocrine syndrome type 1 30.7 TDRD6 STAT1 NUDT10 NLRP5 KCNRG IL17RA
11 premature menopause 30.7 NUDT10 NLRP5 CYP11A1 CD4 AIRE
12 thrombocytopenic purpura, autoimmune 30.7 ICOSLG CD4 CCR6
13 alopecia areata 30.7 IL17A ICOSLG FOXP3 AIRE
14 psoriasis 11 30.6 IL17RA IL17F IL17A
15 pernicious anemia 30.6 NUDT10 ICOSLG GAD2 CD4 CCR6 AIRE
16 keratitis, hereditary 30.6 IL17A CD4 CCR6
17 immunoglobulin alpha deficiency 30.6 ICOSLG CD4 CCR6
18 autoimmune pancreatitis 30.5 ICOSLG CD4 CCR6
19 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.5 STAT1 IL17A ICOSLG FOXP3 CD4 CCR6
20 autoimmune gastritis 30.5 NUDT10 IL17A ICOSLG FOXP3 CD4 CCR6
21 severe covid-19 30.5 IL17A CD4 CCR6
22 exanthem 30.4 IL17A ICOSLG CD4 CCR6
23 interstitial nephritis 30.4 ICOSLG CD4 CCR6
24 vogt-koyanagi-harada disease 30.4 IL17A ICOSLG CD4 CCR6
25 sclerosing cholangitis 30.4 IL17A ICOSLG CD4 CCR6
26 juvenile rheumatoid arthritis 30.4 ICOSLG CD4 CCR6
27 inflammatory bowel disease 1 30.4 IL17A CCR6 CARD9
28 thrombocytopenia due to platelet alloimmunization 30.3 ICOSLG CD4 CCR6
29 angular cheilitis 30.3 IL17A CD4 AIRE
30 xerophthalmia 30.3 ICOSLG CD4 CCR6
31 igg4-related disease 30.3 ICOSLG CD4 CCR6
32 autoimmune cardiomyopathy 30.3 ICOSLG CD4
33 sialadenitis 30.3 ICOSLG CD4 CCR6
34 psoriasis 30.2 IL17RA IL17F IL17A CD4 CCR6
35 myocarditis 30.2 STAT1 IL17A IL12RB1 CD4
36 cholangitis, primary sclerosing 30.2 IL17A ICOSLG FOXP3 CD4 CCR6 AIRE
37 crescentic glomerulonephritis 30.2 IL17A ICOSLG CD4 CCR6
38 chickenpox 30.1 STAT1 IL17A CD4 CCR6
39 mucormycosis 30.1 CLEC7A CD4 CCR6 CARD9
40 anterior uveitis 30.1 IL17A ICOSLG CD4 CCR6
41 colitis 30.1 IL17RA IL17A ICOSLG FOXP3 CD4 CCR6
42 spondyloarthropathy 1 30.1 IL17F IL17A ICOSLG CD4 CCR6
43 celiac disease 1 30.0 STAT1 NUDT10 IL17A ICOSLG GAD2 FOXP3
44 oral candidiasis 30.0 IL17RA IL17F IL17A IL12RB1 CLEC7A CD4
45 systemic scleroderma 30.0 IL17A ICOSLG FOXP3 CD4 CCR6
46 sarcoidosis 1 29.9 STAT1 IL17A IL12RB1 ICOSLG CD4 CCR6
47 crohn's disease 29.9 IL17F IL17A ICOSLG FOXP3 CD4 CCR6
48 viral infectious disease 29.8 STAT1 IL17A ICOSLG CD4 CCR6
49 peripheral nervous system disease 29.8 IL17A ICOSLG GAD2 FOXP3 CD4 CCR6
50 connective tissue disease 29.8 STAT1 IL17F IL17A ICOSLG FOXP3 CD4

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome:



Diseases related to Autoimmune Polyendocrine Syndrome

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 AIRE CARD9 CASR CCR6 CD4 CLEC7A
2 immune system MP:0005387 10.06 AIRE CARD9 CASR CCR6 CD4 CLEC7A
3 digestive/alimentary MP:0005381 9.91 AIRE CASR CD4 CLEC7A FOXP3 GAD2
4 respiratory system MP:0005388 9.56 AIRE CLEC7A FOXP3 GAD2 IL17A IL17F
5 hematopoietic system MP:0005397 9.5 AIRE CARD9 CASR CCR6 CD4 CLEC7A

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

Drugs for Autoimmune Polyendocrine Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
3
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved 23593-75-1 2812
5
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical 133585-56-5, 60-18-4, 556-02-5 1153 6057
6
Tryptophan Approved, Nutraceutical, Withdrawn 73-22-3 6305
7
Glutamic acid Approved, Nutraceutical 56-86-0 33032
8 Immunologic Factors
9 Dopa Decarboxylase
10 Immunoglobulins
11 Antibodies
12 Autoantibodies
13 Anti-Bacterial Agents
14 Epinephryl borate
15 Antifungal Agents
16 Antibiotics, Antitubercular
17 Tin Fluorides
18
D-Leucine Experimental, Investigational, Nutraceutical 328-38-1, 61-90-5 439524 6106

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata Recruiting NCT05398809 Phase 2 Ruxolitinib
2 Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome Unknown status NCT03751683
3 Tyrosine Hydroxylase Antibody Levels in Autoimmune Polyglandular Syndrome Type 1 Associated Keratitis Completed NCT04375852
4 Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome Completed NCT02421276
5 Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan Recruiting NCT05578105
6 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Recruiting NCT03800056

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Cochrane evidence based reviews: polyendocrinopathies, autoimmune

Genetic Tests for Autoimmune Polyendocrine Syndrome

Anatomical Context for Autoimmune Polyendocrine Syndrome

Organs/tissues related to Autoimmune Polyendocrine Syndrome:

MalaCards : Thyroid, T Cells, Thymus, Pituitary, B Cells, Liver, Kidney

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 1272)
# Title Authors PMID Year
1
Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge. 53 62
20118890 2009
2
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. 53 62
19758376 2009
3
Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1. 53 62
19328411 2009
4
Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. 53 62
19196253 2009
5
Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED. 53 62
19037923 2008
6
Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. 53 62
18606876 2008
7
The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. 53 62
18292755 2008
8
Graft-versus-host-like disease complicating thymoma: lack of AIRE expression as a cause of non-hereditary autoimmunity? 53 62
17928069 2007
9
Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1). 53 62
17334980 2007
10
Ocular complications of autoimmune polyendocrinopathy syndrome type 1. 53 62
17189144 2006
11
Ets transcription factors regulate AIRE gene promoter. 53 62
16890195 2006
12
Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues. 53 62
16876259 2006
13
Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. 53 62
16784312 2006
14
Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients. 53 62
16552513 2006
15
Disruption of immunological tolerance: role of AIRE gene in autoimmunity. 53 62
16431348 2006
16
The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules. 53 62
16403019 2006
17
Immunodeficiencies with autoimmune consequences. 53 62
16682278 2006
18
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. 53 62
16114041 2005
19
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. 53 62
16290093 2005
20
AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy. 53 62
15640689 2004
21
Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage. 53 62
15482854 2004
22
Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism. 53 62
15356052 2004
23
APECED-causing mutations in AIRE reveal the functional domains of the protein. 53 62
14974083 2004
24
Life-threatening autoimmunity with diabetes: management with an insulin pump. 53 62
14655274 2003
25
Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter. 53 62
12651856 2003
26
Autoimmune regulator: from loss of function to autoimmunity. 53 62
12595897 2003
27
Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. 53 62
12542742 2002
28
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. 53 62
12625412 2002
29
APECED mutations in the autoimmune regulator (AIRE) gene. 53 62
11524731 2001
30
Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). 53 62
11156688 2001
31
Adrenal autoimmunity: results and developments. 53 62
10920386 2000
32
3beta-hydroxysteroid dehydrogenase autoantibodies are rare in premature ovarian failure. 53 62
10852471 2000
33
Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire). 53 62
10593569 1999
34
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 53 62
9837820 1998
35
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. 53 62
9465297 1998
36
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination. 62
36342455 2023
37
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. 62
36191466 2022
38
Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report. 62
35870793 2022
39
Autoimmune Polyglandular Syndrome with Refractory Gait Disturbance. 62
36450465 2022
40
Umbilical Cord-Derived Mesenchymal Stem Cells for the Treatment of Infertility Due to Premature Ovarian Failure. 62
36415442 2022
41
Autoimmune regulator (AIRE): Takes a hypoxia-inducing factor 1A (HIF1A) route to regulate FOXP3 expression in PCOS. 62
36305192 2022
42
A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation. 62
36251243 2022
43
Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology. 62
36309634 2022
44
Oral manifestations of autoimmune polyglandular syndrome type 1. 62
35182449 2022
45
[Just Anorexia?] 62
36102024 2022
46
Autoimmune Polyglandular Syndrome Type 1: A Report of Rare Case of a 16-Year-Old Asian Female Patient With Respiratory Manifestations. 62
36072782 2022
47
Ocular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report. 62
36126065 2022
48
New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden. 62
36140482 2022
49
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach. 62
35690244 2022
50
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review. 62
35597148 2022

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 159448 21 42600000 48129895 Deletion AIRE Autoimmune polyendocrine syndrome

Expression for Autoimmune Polyendocrine Syndrome

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome.

Pathways for Autoimmune Polyendocrine Syndrome

Pathways related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 STAT1 IL17RA IL17F IL17A IL12RB1 ICOSLG
2
Show member pathways
12.33 STAT1 IL17F IL17A IL12RB1 CD4
3
Show member pathways
11.75 STAT1 IL12RB1 CD4
4 11.72 STAT1 IL17F IL17A
5
Show member pathways
11.65 STAT1 IL17F IL17A IL12RB1 CD4
6 11.6 STAT1 IL17A FOXP3
7 11.57 CCR6 CD4 IL12RB1 IL17A
8
Show member pathways
11.52 IL17RA IL17F IL17A IL12RB1 FOXP3
9
Show member pathways
11.39 STAT1 IL17F IL12RB1 FOXP3
10 11.19 STAT1 IL17F IL17A FOXP3 CD4
11
Show member pathways
11.06 STAT1 IL17RA IL17F IL17A IL12RB1 CD4
12 10.67 IL12RB1 CD4
13 10.13 IL17RA IL17A

GO Terms for Autoimmune Polyendocrine Syndrome

Biological processes related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10.21 IL17RA IL17F IL17A ICOSLG CD4 CARD9
2 T cell activation GO:0042110 10.01 ICOSLG FOXP3 CLEC7A CD4
3 immune system process GO:0002376 9.98 IL17RA IL17F IL17A ICOSLG CLEC7A CD4
4 positive regulation of interleukin-6 production GO:0032755 9.96 IL17RA IL17F IL17A CLEC7A CARD9
5 positive regulation of T-helper 17 type immune response GO:2000318 9.85 CARD9 CLEC7A IL12RB1
6 fibroblast activation GO:0072537 9.8 IL17RA IL17A
7 interleukin-17-mediated signaling pathway GO:0097400 9.8 IL17RA IL17F IL17A
8 regulation of interleukin-2 production GO:0032663 9.78 IL17F CARD9
9 positive regulation of antimicrobial peptide production GO:0002225 9.76 IL17F IL17A
10 positive regulation of interleukin-23 production GO:0032747 9.63 CLEC7A IL17A IL17RA
11 positive regulation of chemokine (C-X-C motif) ligand 1 production GO:2000340 9.43 IL17RA IL17F IL17A
12 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.32 IL17RA IL17F IL17A CLEC7A CARD9

Molecular functions related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.47 STAT1 IL17F IL17A FOXP3 CD4 CASR

Sources for Autoimmune Polyendocrine Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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