MCID: ATM019
MIFTS: 48

Autoimmune Polyendocrine Syndrome

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
Polyendocrinopathies, Autoimmune 45 74
Autoimmune Polyglandular Failure 12
Polyendocrinopathies Autoimmune 56
Autoimmune Polyendocrinopathy 12
Lloyd's Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14040
MeSH 45 D016884
NCIt 51 C84576
SNOMED-CT 69 18947001 41864002
ICD10 34 E31.0
UMLS 74 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 polyendocrinopathies, autoimmune, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrine syndrome type 1. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Allograft rejection and Glucose / Energy Metabolism. The drugs Miconazole and Amphotericin B have been mentioned in the context of this disorder. Affiliated tissues include thyroid, t cells and heart, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 77 Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs),... 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 113)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 34.5 GAD1 GAD2
2 autoimmune polyendocrine syndrome type 1 32.7 AIRE CASR DDC IL17A NLRP5 TDRD6
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.7 AIRE CASR CYP11A1 DDC GAD1 GAD2
4 chronic mucocutaneous candidiasis 29.9 AIRE IL17A
5 autoimmune enteropathy 29.6 FOXP3 IL17A
6 diabetes mellitus 29.5 AIRE FOXP3 GAD1 GAD2
7 diabetes mellitus, insulin-dependent 29.3 AIRE FOXP3 GAD1 GAD2
8 autoimmune disease 29.2 AIRE FOXP3 GAD2 IL17A
9 autoimmune polyendocrinopathy type 4 11.7
10 autoimmune polyglandular syndrome type 3 11.7
11 autoimmune polyendocrinopathy type 3 11.7
12 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.7
13 hepatitis 10.3
14 hypoparathyroidism, familial isolated 10.2 AIRE CASR
15 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
16 autoimmune hepatitis 10.2
17 hypoparathyroidism 10.2
18 candidiasis 10.2
19 adrenal cortical hypofunction 10.2 AIRE CYP11A1
20 spastic cerebral palsy 10.2 GAD1 GAD2
21 parathyroid gland disease 10.2 AIRE CASR
22 diabetes mellitus, ketosis-prone 10.1 GAD1 GAD2
23 stiff-person syndrome 10.1 GAD1 GAD2
24 hashimoto thyroiditis 10.1
25 turner syndrome 10.1
26 thyroiditis 10.1
27 psoriasis 10.1
28 kleine-levin hibernation syndrome 10.1 GAD2 TPH1
29 limbic encephalitis 10.1 GAD1 GAD2
30 keratopathy 10.1
31 pure red-cell aplasia 10.1
32 squamous cell carcinoma 10.1
33 nail disease 10.1 AIRE IL17A
34 opportunistic mycosis 10.0 AIRE IL17A
35 hypoadrenocorticism, familial 10.0 AIRE CYP11A1 DDC
36 autoimmune peripheral neuropathy 10.0 AIRE FOXP3
37 hepatocellular carcinoma 10.0
38 systemic lupus erythematosus 10.0
39 pulmonary hypertension, primary, 1 10.0
40 down syndrome 10.0
41 asthma 10.0
42 dermatitis herpetiformis, familial 10.0
43 aceruloplasminemia 10.0
44 psoriasis 7 10.0
45 hepatitis c virus 10.0
46 psoriasis 11 10.0
47 psoriasis 13 10.0
48 peripartum cardiomyopathy 10.0
49 acute leukemia 10.0
50 acute liver failure 10.0

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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AIRE CASR CYP11A1 DDC FOXP3 GAD1
2 growth/size/body region MP:0005378 10.06 AIRE CASR CYP11A1 DDC FOXP3 GAD1
3 endocrine/exocrine gland MP:0005379 10.03 AIRE CASR CYP11A1 FOXP3 GAD1 GAD2
4 cellular MP:0005384 10.02 CASR CYP11A1 DDC FOXP3 GAD1 TDRD6
5 homeostasis/metabolism MP:0005376 10.02 AIRE CASR CYP11A1 DDC FOXP3 GAD1
6 digestive/alimentary MP:0005381 9.93 AIRE CASR FOXP3 GAD1 GAD2 IL17A
7 immune system MP:0005387 9.87 AIRE CASR CYP11A1 DDC FOXP3 GAD2
8 mortality/aging MP:0010768 9.86 AIRE CASR CYP11A1 DDC FOXP3 GAD1
9 no phenotypic analysis MP:0003012 9.55 AIRE FOXP3 GAD1 GAD2 IL17A
10 reproductive system MP:0005389 9.5 AIRE CYP11A1 DDC FOXP3 GAD2 NLRP5
11 respiratory system MP:0005388 9.1 AIRE FOXP3 GAD1 GAD2 IL17A TPH1

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
3 Antiparasitic Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Antiprotozoal Agents Phase 2
6 Liposomal amphotericin B Phase 2
7 Antifungal Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Autoantibodies Phase 2
10
Epinephrine Approved, Vet_approved 51-43-4 5816
11
Racepinephrine Approved 329-65-7 838
12 Antibiotics, Antitubercular
13 Epinephryl borate
14 Tin Fluorides

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
2 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
3 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
4 Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome Recruiting NCT02421276 Not Applicable
5 Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome Active, not recruiting NCT03751683
6 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:

42
Thyroid, T Cells, Heart, Brain, Testes, Testis, Salivary Gland

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 111)
# Title Authors Year
1
Immune Checkpoint Blockade Anti-PD-L1 as a Trigger for Autoimmune Polyendocrine Syndrome. ( 30746508 )
2019
2
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I. ( 30372540 )
2019
3
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. ( 30924131 )
2019
4
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. ( 30510552 )
2018
5
Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity. ( 30381479 )
2018
6
The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers. ( 30287219 )
2018
7
Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1. ( 30177913 )
2018
8
Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A. ( 29978826 )
2018
9
Oral microbiota in autoimmune polyendocrine syndrome type 1. ( 29503707 )
2018
10
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. ( 29437776 )
2018
11
Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab. ( 29300536 )
2018
12
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
13
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
14
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
15
Impaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I. ( 28686485 )
2017
16
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
17
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
18
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
19
A case of autoimmune polyendocrine syndrome type I with strong positive GAD antibody titer, followed up with glucose tolerance measured by oral glucose tolerance test. ( 28326749 )
2017
20
Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
21
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
22
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
23
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
24
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
25
Autoimmune polyendocrine syndrome and thrombocytosis. ( 26229032 )
2015
26
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. ( 26181530 )
2015
27
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ( 25821607 )
2015
28
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component? ( 25751334 )
2015
29
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
30
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. ( 24825086 )
2014
31
A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3). ( 26000153 )
2014
32
Successful management of insulin allergy and autoimmune polyendocrine syndrome type 4 with desensitization therapy and glucocorticoid treatment: a case report and review of the literature. ( 25548690 )
2014
33
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
34
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
35
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. ( 24914264 )
2014
36
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
37
Rituximab-induced remission of autoimmune hypophysitis and primary immune thrombocytopenia in a patient with autoimmune polyendocrine syndrome type 4. ( 30763991 )
2014
38
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. ( 23648718 )
2013
39
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. ( 23697860 )
2013
40
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. ( 24158785 )
2013
41
Autoimmune polyendocrine syndrome: a case-based review. ( 23641891 )
2013
42
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
43
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
44
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. ( 23182718 )
2013
45
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
46
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? ( 23318858 )
2013
47
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
48
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. ( 23565477 )
2012
49
Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report. ( 22839422 )
2012
50
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

7
# CNVD ID Chromosom 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
12.5 FOXP3 GAD1 GAD2 IL17A
2 12.19 CYP11A1 GAD1 GAD2
3 11.79 DDC GAD1 GAD2 TPH1
4
Show member pathways
11.11 DDC TPH1
5
Show member pathways
11.07 GAD1 GAD2
6 11.03 GAD1 GAD2
7
Show member pathways
10.96 GAD1 GAD2
8 10.85 DDC TPH1
9
Show member pathways
10.62 GAD1 GAD2
10 10.55 GAD1 GAD2
11
Show member pathways
10.37 GAD1 GAD2
12
Show member pathways
10.27 DDC GAD1 GAD2 TPH1
13 10.2 GAD1 GAD2

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 cytoplasm GO:0005737 9.91 AIRE CASR DDC FOXP3 GAD1 GAD2
2 axon terminus GO:0043679 9.32 CASR GAD1
3 axon GO:0030424 9.26 CASR DDC GAD1 GAD2
4 inhibitory synapse GO:0060077 9.16 GAD1 GAD2
5 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter biosynthetic process GO:0042136 9.26 GAD1 GAD2
2 serotonin biosynthetic process GO:0042427 9.16 DDC TPH1
3 glutamate decarboxylation to succinate GO:0006540 8.96 GAD1 GAD2
4 carboxylic acid metabolic process GO:0019752 8.8 DDC GAD1 GAD2

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.5 DDC GAD1 GAD2
2 amino acid binding GO:0016597 9.37 CASR DDC
3 pyridoxal phosphate binding GO:0030170 9.33 DDC GAD1 GAD2
4 glutamate binding GO:0016595 9.26 GAD1 GAD2
5 glutamate decarboxylase activity GO:0004351 8.96 GAD1 GAD2
6 carboxy-lyase activity GO:0016831 8.8 DDC GAD1 GAD2

Sources for Autoimmune Polyendocrine Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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