MCID: ATM019
MIFTS: 47

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 44 73
Autoimmune Polyglandular Failure 12
Polyendocrinopathies Autoimmune 55
Autoimmune Polyendocrinopathy 12
Lloyd's Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14040
ICD10 33 E31.0
MeSH 44 D016884
NCIt 50 C84576
UMLS 73 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 Th17 cell differentiation and Neuroscience. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, t cells and pituitary, and related phenotypes are behavior/neurological and endocrine/exocrine gland

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 34.1 AIRE GAD1 GAD2
2 autoimmune polyendocrine syndrome type 1 31.4 AIRE CASR DDC IL17A NLRP5 TDRD6
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 31.1 AIRE CASR CYP11A1 DDC GAD1 GAD2
4 chronic mucocutaneous candidiasis 29.4 AIRE IL17A IL22
5 autoimmune enteropathy 29.2 FOXP3 IL17A
6 diabetes mellitus 27.9 AIRE FOXP3 GAD1 GAD2
7 autoimmune polyendocrinopathy type 4 11.5
8 autoimmune polyglandular syndrome type 3 11.2
9 autoimmune polyendocrinopathy type 3 11.2
10 type i 10.6
11 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.5
12 hypoparathyroidism, familial isolated 10.5 AIRE CASR
13 parathyroid gland disease 10.4 AIRE CASR
14 spastic cerebral palsy 10.3 GAD1 GAD2
15 diabetes mellitus, ketosis-prone 10.3 GAD1 GAD2
16 adrenal cortical hypofunction 10.3 AIRE CYP11A1
17 limbic encephalitis 10.3 GAD1 GAD2
18 stiff-person syndrome 10.3 GAD1 GAD2
19 hepatitis 10.2
20 kleine-levin hibernation syndrome 10.2 GAD2 TPH1
21 autoimmune hepatitis 10.1
22 hypoparathyroidism 10.1
23 hypoadrenocorticism, familial 10.0 AIRE CYP11A1 DDC
24 opportunistic mycosis 10.0 AIRE IL17A
25 candidiasis 10.0
26 thyroiditis 10.0
27 psoriasis 10.0
28 acute generalized exanthematous pustulosis 9.9 IL17A IL22
29 biliary cirrhosis, primary, 1 9.8
30 hepatocellular carcinoma 9.8
31 systemic lupus erythematosus 9.8
32 pulmonary hypertension, primary, 1 9.8
33 down syndrome 9.8
34 asthma 9.8
35 psoriasis 2 9.8
36 aceruloplasminemia 9.8
37 psoriasis 7 9.8
38 hepatitis c virus 9.8
39 psoriasis 11 9.8
40 psoriasis 13 9.8
41 peripartum cardiomyopathy 9.8
42 ataxia-oculomotor apraxia 3 9.8
43 acute leukemia 9.8
44 acute liver failure 9.8
45 alopecia 9.8
46 leukemia 9.8
47 primary biliary cirrhosis 9.8
48 cardiac arrest 9.8
49 calcinosis 9.8
50 atrial heart septal defect 9.8

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
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 DDC FOXP3 AIRE GAD1 CASR GAD2
2 endocrine/exocrine gland MP:0005379 9.97 FOXP3 TDRD6 AIRE GAD1 GAD2 CASR
3 growth/size/body region MP:0005378 9.97 FOXP3 TPH1 AIRE GAD1 GAD2 CASR
4 homeostasis/metabolism MP:0005376 9.91 IL17A FOXP3 TPH1 AIRE GAD1 CASR
5 digestive/alimentary MP:0005381 9.88 FOXP3 AIRE GAD1 CASR GAD2 IL17A
6 no phenotypic analysis MP:0003012 9.55 IL17A FOXP3 AIRE GAD1 GAD2
7 reproductive system MP:0005389 9.43 NLRP5 TDRD6 FOXP3 AIRE GAD2 CYP11A1
8 respiratory system MP:0005388 9.1 FOXP3 TPH1 AIRE GAD1 GAD2 IL17A

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 Anti-Bacterial Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antifungal Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Antiprotozoal Agents Phase 2
8 Liposomal amphotericin B Phase 2
9 Autoantibodies Phase 2

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

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:

41
Thyroid, T Cells, Pituitary, Testes, Testis, Salivary Gland, Brain

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 105)
# Title Authors Year
1
Seizures and Cerebellar Calcification in a Child with Autoimmune Polyendocrine Syndrome 3A. ( 29978826 )
2018
2
Oral microbiota in autoimmune polyendocrine syndrome type 1. ( 29503707 )
2018
3
Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab. ( 29300536 )
2018
4
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. ( 29437776 )
2018
5
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
6
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
7
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
8
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
9
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
10
Impaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I. ( 28686485 )
2017
11
Assessment of autoantibodies to interferon-I8 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
12
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
13
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
14
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
15
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
16
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
17
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
18
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component? ( 25751334 )
2015
19
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
20
Autoimmune polyendocrine syndrome and thrombocytosis. ( 26229032 )
2015
21
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. ( 26181530 )
2015
22
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ( 25821607 )
2015
23
A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3). ( 26000153 )
2014
24
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. ( 24914264 )
2014
25
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
26
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
27
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
28
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
29
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. ( 24825086 )
2014
30
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? ( 23318858 )
2013
31
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
32
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
33
Autoimmune polyendocrine syndrome: a case-based review. ( 23641891 )
2013
34
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
35
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
36
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. ( 23648718 )
2013
37
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. ( 24158785 )
2013
38
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. ( 23697860 )
2013
39
Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report. ( 22839422 )
2012
40
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
41
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
42
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
43
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. ( 21883495 )
2012
44
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. ( 23565477 )
2012
45
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
46
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. ( 21161541 )
2011
47
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. ( 22043070 )
2011
48
Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. ( 21535082 )
2011
49
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
50
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. ( 19303650 )
2011

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 FOXP3 IL17A IL22
2 12.09 DDC GAD1 GAD2 TPH1
3
Show member pathways
12.09 FOXP3 GAD1 GAD2 IL17A IL22
4
Show member pathways
11.13 DDC TPH1
5
Show member pathways
11.09 GAD1 GAD2
6 11.04 GAD1 GAD2
7
Show member pathways
11.01 GAD1 GAD2
8 10.96 IL17A IL22
9 10.88 DDC TPH1
10
Show member pathways
10.66 GAD1 GAD2
11 10.6 GAD1 GAD2
12
Show member pathways
10.44 GAD1 GAD2
13
Show member pathways
10.27 DDC GAD1 GAD2 TPH1
14 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 axon GO:0030424 9.26 CASR DDC GAD1 GAD2
2 inhibitory synapse GO:0060077 9.16 GAD1 GAD2
3 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 negative regulation of immune response GO:0050777 9.37 FOXP3 NLRP5
2 neurotransmitter biosynthetic process GO:0042136 9.32 GAD1 GAD2
3 indolalkylamine biosynthetic process GO:0046219 9.26 DDC TPH1
4 serotonin biosynthetic process GO:0042427 9.16 DDC TPH1
5 glutamate decarboxylation to succinate GO:0006540 8.96 GAD1 GAD2
6 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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