APS
MCID: ATM019
MIFTS: 46

Autoimmune Polyendocrine Syndrome (APS)

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 12 15
Autoimmune Polyglandular Failure 12 32
Polyendocrinopathies, Autoimmune 44 70
Autoimmune Polyendocrinopathy 12 58
Autoimmune Polyglandular Syndrome 58
Polyendocrinopathies Autoimmune 54
Lloyd's Syndrome 12
Aps 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:14040
MeSH 44 D016884
NCIt 50 C84576
SNOMED-CT 67 41864002
ICD10 32 E31.0
ICD10 via Orphanet 33 E31.0
UMLS via Orphanet 71 C0085409
Orphanet 58 ORPHA282196
UMLS 70 C0085409

Summaries for Autoimmune Polyendocrine Syndrome

Disease Ontology : 12 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

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 Aldosterone synthesis and secretion and Allograft rejection. The drugs Epinephrine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, liver and adrenal gland, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 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 482)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 33.1 INS GAD2 GAD1 AIRE
2 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 31.9 TPH1 TH GAD2 GAD1 DDC CYP21A2
3 hypoparathyroidism 31.4 TPO INS CASR AIRE
4 candidiasis 31.3 IL22 IL17A IL10 AIRE
5 autoimmune polyendocrine syndrome type 1 31.1 TSGA10 TPH1 TH TDRD6 NLRP5 KCNRG
6 vitiligo-associated multiple autoimmune disease susceptibility 1 31.0 TPO IL17A DDC AIRE
7 stiff-person syndrome 30.6 TH INS GAD2 GAD1
8 diabetes mellitus, ketosis-prone 30.6 INS GAD2 GAD1
9 graves' disease 30.6 TPO TG GAD2 AIRE
10 cutaneous candidiasis 30.6 IL17A AIRE
11 pernicious anemia 30.6 TPO TG GAD2 AIRE
12 graves disease 1 30.6 TPO TG INS
13 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.5 IL17A IL10 FOXP3 AIRE
14 polyendocrinopathy 30.5 FOXP3 CYP11A1 AIRE
15 thyroid crisis 30.4 TPO TG
16 turner syndrome 30.3 TPO TG INS CYP21A2
17 acute adrenal insufficiency 30.3 CYP21A2 CYP11A1
18 cholangitis, primary sclerosing 30.3 IL17A IL10 AIRE
19 esophageal candidiasis 30.3 IL17A AIRE
20 thyroid gland disease 30.3 TPO TG INS
21 chronic mucocutaneous candidiasis 30.2 NLRP5 KCNRG IL22 IL17A IL10 FOXP3
22 goiter 30.2 TPO TG INS
23 hyperthyroidism 30.1 TPO TG INS
24 thyroiditis 30.1 TPO TG INS IL17A IL10 FOXP3
25 autoimmune hepatitis 30.1 TPO IL17A IL10 FOXP3 DDC AIRE
26 autoimmune hepatitis type 2 30.0 CYP21A2 CYP11A1
27 autoimmune enteropathy 30.0 IL17A FOXP3
28 hypoadrenocorticism, familial 30.0 TPO TPH1 TG DDC CYP21A2 CYP11A1
29 crohn's disease 30.0 IL22 IL17A IL10 FOXP3
30 dermatitis herpetiformis 29.9 IL17A IL10 FOXP3
31 systemic scleroderma 29.9 TPO INS IL17A IL10
32 hashimoto thyroiditis 29.9 TPO TG IL17A IL10 GAD2 FOXP3
33 type 1 diabetes mellitus 29.9 TPO TG INS IL17A IL10 GAD2
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 TPO TG INS IL17A IL10 GAD2
35 alopecia areata 29.8 TPO IL17A IL10 FOXP3 AIRE
36 colitis 29.6 IL22 IL17A IL10 FOXP3
37 premature menopause 29.5 TPO TG NLRP5 INS CYP21A2 CYP11A1
38 autoimmune disease 29.4 TPO TG INS IL22 IL17A IL10
39 immune deficiency disease 29.3 INS IL17A IL10 FOXP3 AIRE
40 skin disease 29.3 INS IL22 IL17A IL10 FOXP3
41 celiac disease 1 29.2 TPO TG INS IL17A IL10 GAD2
42 diabetes mellitus 28.5 TPO TH TG INS IL17A IL10
43 autoimmune polyglandular syndrome type 3 11.4
44 autoimmune polyendocrinopathy type 3 11.4
45 autoimmune polyendocrinopathy type 4 11.4
46 autoimmune oophoritis 11.1
47 autosomal recessive disease 10.5
48 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
49 hypothyroidism 10.5
50 alopecia 10.5

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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 AIRE CASR CYP11A1 CYP21A2 DDC FOXP3
2 growth/size/body region MP:0005378 10.38 AIRE CASR CYP11A1 CYP21A2 DDC FOXP3
3 endocrine/exocrine gland MP:0005379 10.37 AIRE CASR CYP11A1 FOXP3 GAD1 GAD2
4 homeostasis/metabolism MP:0005376 10.33 AIRE CASR CYP11A1 DDC FOXP3 GAD1
5 cellular MP:0005384 10.28 CASR CYP11A1 DDC FOXP3 GAD1 IL10
6 immune system MP:0005387 10.25 AIRE CASR CYP11A1 CYP21A2 DDC FOXP3
7 digestive/alimentary MP:0005381 10.21 AIRE CASR FOXP3 GAD1 GAD2 IL10
8 mortality/aging MP:0010768 10.21 AIRE CASR CYP11A1 CYP21A2 DDC FOXP3
9 craniofacial MP:0005382 10.13 CASR DDC FOXP3 GAD1 GAD2 IL10
10 integument MP:0010771 10.1 CASR CYP21A2 FOXP3 IL10 IL17A IL22
11 no phenotypic analysis MP:0003012 9.97 AIRE FOXP3 GAD1 GAD2 IL10 IL17A
12 reproductive system MP:0005389 9.96 AIRE CYP11A1 DDC FOXP3 GAD2 IL10
13 respiratory system MP:0005388 9.81 AIRE FOXP3 GAD1 GAD2 IL10 IL17A
14 skeleton MP:0005390 9.65 CASR CYP11A1 DDC GAD1 IL10 IL17A
15 vision/eye MP:0005391 9.28 AIRE CASR CYP11A1 DDC FOXP3 IL10

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
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
3
Racepinephrine Approved 329-65-7 838
4
Clotrimazole Approved, Vet_approved 23593-75-1 2812
5
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
6
Tryptophan Approved, Nutraceutical, Withdrawn 73-22-3 6305
7
Glutamic acid Approved, Nutraceutical 56-86-0 33032
8 Immunologic Factors
9 Immunoglobulins
10 Dopa Decarboxylase
11 Antibodies
12 Autoantibodies
13 Epinephryl borate
14 Anti-Bacterial Agents
15 Antibiotics, Antitubercular
16 Antifungal Agents
17 Tin Fluorides
18
Leucine Investigational, Nutraceutical 61-90-5 6106

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome Unknown status NCT03751683
2 Tyrosine Hydroxylase Antibody Levels in Autoimmune Polyglandular Syndrome Type 1 Associated Keratitis Completed NCT04375852
3 Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome Recruiting NCT02421276
4 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet 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

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

40
Thyroid, Liver, Adrenal Gland, Bone, Heart, Pituitary, Skin

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 327)
# Title Authors PMID Year
1
Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1. 54 61
19328411 2009
2
A case of eosinophilic esophagitis with autoimmune polyendocrine syndrome type 2, including autoimmune gastritis. 61
33411318 2021
3
Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients. 61
32767280 2021
4
Impact of periprocedural subcutaneous parathyroid hormone on control of hypocalcaemia in APS-1/APECED patients undergoing invasive procedures. 61
32955743 2021
5
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. 61
33723309 2021
6
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review. 61
33599910 2021
7
Case of autoimmune polyendocrine syndrome type 3 complicated with anti-N-methyl-D-aspartic acid-receptor encephalitis. 61
32603545 2021
8
How we treat endocrine complications of immune checkpoint inhibitors. 61
33399077 2021
9
Autoimmune Polyendocrine Syndrome Complicated by Pulmonary Hypertension. 61
32744953 2021
10
Ultra-Widefield OCT in Retinopathy of Autoimmune Polyendocrine Syndrome Type 1. 61
33413798 2021
11
Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1. 61
33468135 2021
12
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature. 61
33352647 2020
13
ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management. 61
32905579 2020
14
Pubertal development and premature ovarian insufficiency in patients with APECED. 61
33107435 2020
15
Autoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review. 61
33200250 2020
16
Neutralizing natural anti-IL-17F autoantibodies protect Autoimmune Polyendocrine Syndrome Type 1 (APS-1) patients from asthma. 61
32544610 2020
17
Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link? 61
33269118 2020
18
Low Pepsinogen I/II Ratio and High Gastrin-17 Levels Typify Chronic Atrophic Autoimmune Gastritis Patients With Gastric Neuroendocrine Tumors. 61
33094954 2020
19
A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1. 61
32627016 2020
20
A COVID-19 pneumonia case report of autoimmune polyendocrine syndrome type 1 in Lombardy, Italy: letter to the editor. 61
32519200 2020
21
Increased risk of endocrine autoimmunity in first-degree relatives of patients with autoimmune Addison's disease. 61
32487775 2020
22
Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. 61
32615666 2020
23
A girl with lethargy and severe electrolyte imbalance. 61
32549023 2020
24
Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up. 61
32581059 2020
25
A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians. 61
32358377 2020
26
Mixed phenotypic presentation of autoimmune polyendocrine syndrome type II in adolescent female. 61
32754527 2020
27
Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq. 61
32410729 2020
28
Autoimmune polyendocrine syndrome type 4 with systemic lupus erythematosus and anti-phospholipid syndrome. 61
32149761 2020
29
The altered circadian pattern of basal insulin requirements - an early marker of autoimmune polyendocrine syndromes in type 1 diabetes mellitus. 61
32597157 2020
30
Dual functions of Aire CARD multimerization in the transcriptional regulation of T cell tolerance. 61
32242017 2020
31
Autoimmune Addison's disease. 61
32063488 2020
32
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1. 61
31905445 2019
33
Human Leukocyte Antigen (HLA) Subtype-Dependent Development of Myasthenia Gravis, Type-1 Diabetes Mellitus, and Hashimoto Disease: A Case Report of Autoimmune Polyendocrine Syndrome Type 3. 61
31745069 2019
34
Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1. 61
31526676 2019
35
Anti-programmed cell death protein 1 (anti-PD1) immunotherapy induced autoimmune polyendocrine syndrome type II (APS-2): a case report and review of the literature. 61
31488221 2019
36
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. 61
30924131 2019
37
Petrified pinna and pericarditis in autoimmune polyendocrine syndrome. 61
31167769 2019
38
Isolated adrenocorticotropic hormone deficiency and thyroiditis associated with nivolumab therapy in a patient with advanced lung adenocarcinoma: a case report and review of the literature. 61
30909965 2019
39
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I. 61
30372540 2019
40
Immune Checkpoint Blockade Anti-PD-L1 as a Trigger for Autoimmune Polyendocrine Syndrome. 61
30746508 2019
41
[Endoscopic treatment for gastric carcinoid tumor in a patient with type A gastritis complicated with autoimmune polyendocrine syndrome: a case report]. 61
31406070 2019
42
Amyloids in Site-Specific Autoimmune Reactions and Inflammatory Responses. 61
31993048 2019
43
Co-Occurrence of Multiple Endocrine Abnormalities Induced by the DIHS/DRESS. 61
31687021 2019
44
Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity. 61
30381479 2018
45
The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers. 61
30287219 2018
46
Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab. 61
29300536 2018
47
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. 61
29437776 2018
48
Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A. 61
29978826 2018
49
The Schmidt Syndrome. 61
29350667 2018
50
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked. 61
29651287 2018

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

7
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 TPO TG INS CYP21A2 CYP11A1
2
Show member pathways
12.35 TPO TG INS IL22 IL17A IL10
3 12.25 TPH1 TH GAD2 GAD1 DDC
4 11.88 TPH1 TH IL10 DDC
5
Show member pathways
11.56 TPO TH DDC
6 11.54 IL22 IL17A IL10
7 11.52 TPO TPH1 TH DDC
8 11.51 TH GAD2 GAD1
9
Show member pathways
11.06 TPO TPH1 TH DDC
10 10.68 TH DDC
11
Show member pathways
10.64 GAD2 GAD1
12 10.59 TH DDC
13 10.54 GAD2 GAD1
14
Show member pathways
10.36 TPH1 TH GAD2 GAD1 DDC
15 10.18 TPO TG

GO Terms for Autoimmune Polyendocrine Syndrome

Cellular components related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inhibitory synapse GO:0060077 9.16 GAD2 GAD1
2 axon GO:0030424 9.02 TH GAD2 GAD1 DDC CASR
3 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.96 GAD2 GAD1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hepatocyte growth factor stimulus GO:0035729 9.57 IL10 CASR
2 thyroid hormone generation GO:0006590 9.56 TPO TG
3 hormone biosynthetic process GO:0042446 9.55 TPO TG
4 dopamine biosynthetic process GO:0042416 9.54 TH DDC
5 cellular response to alkaloid GO:0071312 9.52 TH DDC
6 aromatic amino acid family metabolic process GO:0009072 9.51 TPH1 TH
7 glucocorticoid biosynthetic process GO:0006704 9.49 CYP21A2 CYP11A1
8 catecholamine biosynthetic process GO:0042423 9.48 TH DDC
9 indolalkylamine biosynthetic process GO:0046219 9.46 TPH1 DDC
10 response to pyrethroid GO:0046684 9.43 TH DDC
11 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.4 TH DDC
12 serotonin biosynthetic process GO:0042427 9.37 TPH1 DDC
13 isoquinoline alkaloid metabolic process GO:0033076 9.32 TH DDC
14 phytoalexin metabolic process GO:0052314 9.26 TH DDC
15 glutamate decarboxylation to succinate GO:0006540 9.16 GAD2 GAD1
16 carboxylic acid metabolic process GO:0019752 9.13 GAD2 GAD1 DDC
17 neurotransmitter biosynthetic process GO:0042136 8.8 TH GAD2 GAD1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.62 TPH1 TH CYP21A2 CYP11A1
2 pyridoxal phosphate binding GO:0030170 9.58 GAD2 GAD1 DDC
3 glutamate binding GO:0016595 9.43 GAD2 GAD1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 9.37 TPH1 TH
5 carboxy-lyase activity GO:0016831 9.33 GAD2 GAD1 DDC
6 glutamate decarboxylase activity GO:0004351 9.26 GAD2 GAD1
7 monooxygenase activity GO:0004497 9.26 TPH1 TH CYP21A2 CYP11A1
8 amino acid binding GO:0016597 8.8 TH DDC CASR

Sources for Autoimmune Polyendocrine Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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