MCID: ATM019
MIFTS: 43

Autoimmune Polyendocrine Syndrome

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 12 14
Polyendocrinopathies, Autoimmune 42 69
Autoimmune Polyglandular Failure 12
Polyendocrinopathies Autoimmune 52
Autoimmune Polyendocrinopathy 12
Lloyd's Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14040
ICD10 33 E31.0
MeSH 42 D016884
NCIt 47 C84576
UMLS 69 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 Neuroscience. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and t cells, and related phenotypes are behavior/neurological and endocrine/exocrine gland

Wikipedia : 72 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 65)
id Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 12.5
2 autoimmune polyendocrine syndrome type 1 12.5
3 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 11.7
4 autoimmune polyendocrinopathy type 4 11.0
5 autoimmune polyendocrinopathy type 3 11.0
6 autoimmune polyglandular syndrome type 3 11.0
7 chitty hall webb syndrome 10.5 GAD1 TPH1
8 repetitive stress injuries 10.4 DDC INS
9 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.4
10 dyskinetic cerebral palsy 10.3 GAD1 GAD2
11 opioid abuse 10.3 AIRE CASR
12 monocarboxylate transporter 1 deficiency 10.3 GAD1 INS
13 linear lichen planus 10.3 GAD1 GAD2
14 breast cancer 10.2 GAD2 INS
15 addison's disease 10.2
16 hyperlipoproteinemia type iv 10.2 GAD1 INS
17 hepatitis 10.2
18 congenital heart defects, nonsyndromic, 2 10.1 AIRE INS
19 myopathy, distal, with early respiratory failure, autosomal dominant 10.0 GAD2 TPH1
20 cardiomyopathy 10.0
21 autoimmune hepatitis 10.0
22 hypoparathyroidism 10.0
23 biliary cirrhosis, primary, 4 10.0 GAD1 GAD2 INS
24 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 10.0 FOXP3 IL17A
25 atrial tachyarrhythmia with short pr interval 10.0 GAD1 GAD2 INS
26 motor peripheral neuropathy 10.0 AIRE IL17A
27 chronic mucocutaneous candidiasis 9.9
28 thyroiditis 9.9
29 psoriasis 9.9
30 candidiasis 9.9
31 cd3zeta deficiency 9.8 AIRE FOXP3
32 hepatitis c 9.8
33 down syndrome 9.8
34 ataxia 9.8
35 thrombocytosis 9.8
36 turner syndrome 9.8
37 acute leukemia 9.8
38 intestinal disease 9.8
39 alopecia 9.8
40 neuronitis 9.8
41 vasculitis 9.8
42 leukemia 9.8
43 lupus erythematosus 9.8
44 primary biliary cirrhosis 9.8
45 hypopituitarism 9.8
46 cardiac arrest 9.8
47 alopecia totalis 9.8
48 systemic lupus erythematosus 9.8
49 hepatitis c virus 9.8
50 hepatocellular carcinoma 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 TPH1 GAD1 AIRE GAD2 CASR DDC
2 endocrine/exocrine gland MP:0005379 9.92 GAD1 AIRE GAD2 CASR IL17A INS
3 digestive/alimentary MP:0005381 9.91 GAD1 AIRE GAD2 CASR IL17A INS
4 growth/size/body region MP:0005378 9.91 TPH1 GAD1 AIRE GAD2 CASR IL17A
5 homeostasis/metabolism MP:0005376 9.81 FOXP3 TPH1 GAD1 AIRE GAD2 CASR
6 no phenotypic analysis MP:0003012 9.43 GAD1 AIRE GAD2 IL17A INS FOXP3
7 respiratory system MP:0005388 9.1 TPH1 GAD1 AIRE GAD2 IL17A FOXP3

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

(show all 9)
id 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 Antifungal Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Antiprotozoal Agents Phase 2
8 Autoantibodies Phase 2
9 Liposomal amphotericin B Phase 2

Interventional clinical trials:


id 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:

39
Thyroid, Testes, T Cells, Brain, Testis, Salivary Gland, Pituitary

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 100)
id Title Authors Year
1
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
2
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
3
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
4
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
5
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
6
Assessment of autoantibodies to interferon-I8 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
7
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
8
Impaired salivary gland activity in patients with autoimmune polyendocrine syndrome type I. ( 28686485 )
2017
9
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
10
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
11
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
12
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
13
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ( 25821607 )
2015
14
Autoimmune polyendocrine syndrome and thrombocytosis. ( 26229032 )
2015
15
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
16
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. ( 26181530 )
2015
17
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
18
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component? ( 25751334 )
2015
19
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. ( 24825086 )
2014
20
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
21
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
22
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. ( 24914264 )
2014
23
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
24
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
25
A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3). ( 26000153 )
2014
26
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. ( 23648718 )
2013
27
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. ( 23697860 )
2013
28
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
29
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
30
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
31
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. ( 24158785 )
2013
32
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? ( 23318858 )
2013
33
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
34
Autoimmune polyendocrine syndrome: a case-based review. ( 23641891 )
2013
35
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
36
Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report. ( 22839422 )
2012
37
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
38
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. ( 21883495 )
2012
39
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
40
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. ( 23565477 )
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
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. ( 22043070 )
2011
43
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
44
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. ( 19303650 )
2011
45
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. ( 21161541 )
2011
46
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
47
Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. ( 21535082 )
2011
48
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
49
Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up. ( 20501686 )
2010
50
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. ( 20123958 )
2010

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

7
id 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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 FOXP3 GAD1 GAD2 IL17A IL22 INS
2 12.07 DDC GAD1 GAD2 TPH1
3
Show member pathways
11.13 DDC TPH1
4
Show member pathways
11.09 GAD1 GAD2
5 11.04 GAD1 GAD2
6
Show member pathways
11.01 GAD1 GAD2
7 10.96 IL17A IL22
8 10.88 DDC TPH1
9
Show member pathways
10.66 GAD1 GAD2
10 10.6 GAD1 GAD2
11
Show member pathways
10.44 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 9.37 IL22 INS
2 neurotransmitter biosynthetic process GO:0042136 9.32 GAD1 GAD2
3 indolalkylamine biosynthetic process GO:0046219 9.26 DDC TPH1
4 glutamate decarboxylation to succinate GO:0006540 9.16 GAD1 GAD2
5 serotonin biosynthetic process GO:0042427 8.96 DDC TPH1
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:

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.54 DDC GAD1 GAD2
2 pyridoxal phosphate binding GO:0030170 9.33 DDC GAD1 GAD2
3 amino acid binding GO:0016597 9.32 CASR DDC
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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