MCID: ATM019
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Autoimmune Polyendocrine Syndrome malady

Endocrine diseases category

Summaries for Autoimmune Polyendocrine Syndrome

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

MalaCards: Autoimmune Polyendocrine Syndrome, also known as polyendocrinopathies, autoimmune, is related to autoimmune polyendocrine syndrome type 1 and addison's disease. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (autoimmune regulator), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and catecholamine biosynthesis. The compounds forskolin and α-propyldopacetamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testis, and related mouse phenotypes are endocrine/exocrine gland and no phenotypic analysis.

Wikipedia:63 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

autoimmune polyendocrine syndrome 8 10
polyendocrinopathies, autoimmune 60
autoimmune polyglandular failure 8
polyendocrinopathies autoimmune 44
autoimmune polyendocrinopathy 8
lloyd's syndrome 8


External Ids:

Disease Ontology8 DOID:14040
MeSH34 D016884
NCIt39 C84576
ICD1025 E31.0

Related Diseases for Autoimmune Polyendocrine Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Autoimmune Polyendocrine Syndrome Type 1 family:

Autoimmune Polyendocrine Syndrome Type 2 autoimmune polyendocrine syndrome

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome type 131.3PFKL, TSGA10, KCNRG, NLRP5
2addison's disease30.8DDC, TPH1, TH, CYP21A2, AIRE
3hepatitis30.6DDC, CYP1A2, AIRE
4autoimmune hepatitis30.6AIRE, DDC, CYP1A2
5thyroiditis30.4GAD2
6candidiasis30.4CARD9, AIRE
7hypoparathyroidism30.4AIRE, NLRP5, CASR
8vitiligo30.4AIRE, PAH, DDC
9autoimmune thyroiditis30.4GAD2, GAD1, AIRE, CYP21A2
10diabetes mellitus30.4GAD2, AIRE, GAD1, CASR
11hypertension30.2TH
12down syndrome30.2AIRE, PFKL
13leukemia30.2IL17A, CYP1A2
14autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2GAD1, DDC, AIRE, CYP1A2, CASR, GAD2
15hypothyroidism30.1CASR, AIRE
16autoimmune polyendocrine syndrome type 210.7
17hepatitis a10.4
18autoimmune polyendocrinopathy type 210.4
19oral candidiasis10.3
20chronic mucocutaneous candidiasis10.3
21whitaker syndrome10.3
22autoimmune polyendocrinopathy type 410.3
23autoimmune polyendocrinopathy type 310.3
24squamous cell carcinoma10.2
25immunodysregulation, polyendocrinopathy and enteropathy x-linked10.2
26primary pulmonary hypertension10.2
27hepatitis c10.2
28primary biliary cirrhosis10.2
29systemic lupus erythematosus10.2
30neuronitis10.2
31peripartum cardiomyopathy10.2
32type 1 diabetes mellitus10.2
33acute leukemia10.2
34alopecia10.2
35calcinosis10.2
36cerebellar ataxia10.2
37hepatocellular carcinoma10.2
38hypopituitarism10.2
39intestinal disease10.2
40lupus erythematosus10.2
41turner syndrome10.2
42autoimmune polyglandular syndrome type 210.2
43autoimmune polyglandular syndrome type 310.2
44limbal stem cell deficiency10.1
45pure red-cell aplasia10.1
46progressive muscular atrophy10.1
47muscular atrophy10.1
48herpes simplex10.1
49keratopathy10.1
50long qt syndrome10.1

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



Diseases related to autoimmune polyendocrine syndrome

Clinical Features for Autoimmune Polyendocrine Syndrome

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Autoimmune Polyendocrine Syndrome

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Anatomical Context for Autoimmune Polyendocrine Syndrome

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32MalaCards
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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

32
Thyroid, Brain, Testis, T cells, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.6GAD2, AES, CYP1A2, TDRD6
2MP:00030129.3GAD2, GAD1, AIRE, CYP1A2, IL17A, TH
3MP:00053889.2GAD2, GAD1, AIRE, CYP1A2, IL17F, IL17A
4MP:00053829.1GAD2, GAD1, EGLN2, AES, IL17F, IL17A
5MP:00053819.1CASR, GAD2, GAD1, AIRE, IL17F, IL17A
6MP:00053878.7CARD9, CASR, GAD2, EGLN2, DDC, AIRE
7MP:00053788.7GAD2, GAD1, DDC, AES, AIRE, TH
8MP:00053868.6CASR, GAD2, GAD1, DDC, AES, AIRE
9MP:00053848.6CASR, GAD1, EGLN2, DDC, AIRE, IL17F
10MP:00107688.2CASR, GAD2, GAD1, DDC, AES, AIRE
11MP:00053768.0TPH1, CARD9, CASR, GAD2, GAD1, EGLN2

Publications for Autoimmune Polyendocrine Syndrome

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50PubMed
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Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? (23318858)
2013
2
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
3
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
4
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. (23648718)
2013
5
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
6
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
7
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
8
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. (22162465)
2012
9
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. (21883495)
2012
10
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
11
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
12
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
13
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
14
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. (22043070)
2011
15
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
16
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
17
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (20056249)
2010
18
Autoimmune polyendocrine syndrome type I and brain calcinosis. (19699136)
2010
19
Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient. (20411253)
2010
20
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. (20500699)
2010
21
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
22
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
23
Takotsubo cardiomyopathy associated with autoimmune polyendocrine syndrome II. (19304138)
2009
24
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
25
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
26
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
27
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
28
Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. (18708298)
2008
29
Autoimmune polyendocrine syndrome with atrial septal defect. (18277128)
2008
30
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome. (18088406)
2007
31
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
32
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. (17911431)
2007
33
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
34
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. (17129978)
2006
35
Median eminence dopaminergic nerve terminals: a novel target in autoimmune polyendocrine syndrome? (15855266)
2005
36
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (14764761)
2004
37
Distinct idiotypes of insulin autoantibody in autoimmune polyendocrine syndrome type 2 and childhood onset type 1 diabetes. (15472233)
2004
38
T-cell reactivity to glutamic acid decarboxylase in stiff-man syndrome and cerebellar ataxia associated with polyendocrine autoimmunity. (12197888)
2002
39
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. (11916620)
2002
40
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
41
Autoantibodies in autoimmune polyendocrine syndrome type II. (12092456)
2002
42
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
43
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. (10664529)
2000
44
Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. (10946908)
2000
45
Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. (10623641)
2000
46
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (10594751)
1999
47
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II. (10376448)
1999
48
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. (8989249)
1997
49
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. (8636356)
1996
50
Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I. (8150232)
1994

Genetic Variations for Autoimmune Polyendocrine Syndrome

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Polyendocrine Syndrome

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Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome

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49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.6TH
2α-propyldopacetamide2810.5TH, TPH1
3benserazide44 2811.4TH, DDC
4pcpa2810.4PAH, TPH1
53-hydroxybenzylhydrazine44 2811.4TPH1, TH, DDC
6l-dops4410.4TH, DDC
7hpah4410.4PAH, TH
8carbidopa44 2811.4DDC, TH, TPH1
9mdma4410.4DDC, TH, TPH1
107,8-Dihydrobiopterin1110.4TH, PAH
115-hydroxytryptophan4410.4TPH1, TH, DDC
12tetrahydropterin4410.3TPH1, PAH, TH
13homovanillic acid44 2411.3TPH1, TH, DDC
144a-hydroxytetrahydrobiopterin44 2411.3PAH, TPH1, TH
15dihydrobiopterin44 2411.3PAH, TH, TPH1
16l-tryptophan44 28 11 2413.3CASR, DDC, TPH1
17clorgyline4410.3CYP1A2, TH
18sepiapterin44 2411.3TH, PAH, TPH1
19pterin44 2411.3PAH, TPH1, TH
20l-dopa28 2411.3TH, DDC
215-hydroxy-l-tryptophan28 2411.3TPH1, DDC
22L-Phenylalanine11 2411.3DDC, TH, PAH
23metyrapone59 44 1112.3TPH1, CYP21A2, CYP1A2
24ibotenic acid4410.2GAD1, TH
25selegiline44 1111.2TH, DDC, CYP1A2
26tetrahydrobiopterin44 11 2412.2PAH, TPH1, TH, DDC
27pyridoxal 5-phosphate4410.1GAD2, DDC, GAD1
28Pyridoxal Phosphate1110.1GAD1, DDC, GAD2
29mptp4410.1TH, GAD2, DDC, GAD1
30hydrogen44 2411.1CYP21A2, PAH, GAD1
31hypotaurine59 44 2412.1GAD1, GAD2
32l-amino acid4410.1TH, CASR, DDC, TPH1, CYP21A2
33melatonin44 59 28 11 2414.1TPH1, CYP21A2, PAH, CYP1A2
34catecholamine4410.0DDC, CYP21A2, TH, PAH, TPH1
35choline44 11 2412.0GAD2, GAD1, TH, TPH1, DDC
36cysteine sulfinic acid4410.0GAD1, GAD2
37phenylalanine449.9CASR, DDC, TH, PAH, TPH1
38c-peptide449.9CYP21A2, GAD1, GAD2
39gaba449.8TPH1, TH, CASR, GAD1, DDC, GAD2
40epinephrine44 11 2411.8DDC, PAH, TH, CYP21A2, CYP1A2
41levodopa44 1110.8PAH, TH, DDC, TPH1, GAD2, GAD1
42norepinephrine44 11 2411.7CYP21A2, DDC, TPH1, PAH, TH, CYP1A2
43iron44 2410.7PAH, EGLN2, TPH1, TH, GAD1
44tetrodotoxin44 59 2811.6GAD1, GAD2, TH
45glutamate449.6DDC, CASR, GAD2, CYP21A2, TH, TPH1
46dopamine44 28 11 2412.5TH, PAH, TPH1, DDC, CYP1A2, GAD1
47nitric oxide44 11 2411.5IL17A, PAH, GAD2, CASR, CYP1A2, GAD1
48oxygen44 2410.4CYP21A2, EGLN2, GAD1, CYP1A2, PAH, TH
49alanine449.4GAD2, GAD1, DDC, TH, PAH, CASR
50tyrosine449.1TPH1, GAD2, DDC, AIRE, CYP21A2, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

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16Gene Ontology
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Cellular components related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:06120210.1GAD1, GAD2

Biological processes related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1phytoalexin metabolic processGO:05231410.4DDC, TH
2synaptic vesicle amine transportGO:01584210.4DDC, TH
3serotonin biosynthetic processGO:04242710.4DDC, TPH1
4glutamate decarboxylation to succinateGO:00654010.3GAD2, GAD1
5isoquinoline alkaloid metabolic processGO:03307610.3DDC, TH
6regulation of interleukin-2 biosynthetic processGO:04507610.3CARD9, IL17F
7response to pyrethroidGO:04668410.3DDC, TH
8indolalkylamine biosynthetic processGO:04621910.3TPH1, DDC
9regulation of interleukin-6 biosynthetic processGO:04540810.3CARD9, IL17F
10catecholamine biosynthetic processGO:04242310.2DDC, TH, PAH
11positive regulation of cytokine production involved in inflammatory responseGO:190001710.1IL17F, IL17A
12dopamine biosynthetic processGO:04241610.1TH, DDC
13multicellular organismal agingGO:01025910.1TH, DDC
14neurotransmitter biosynthetic processGO:04213610.0PAH, TH, GAD1, GAD2
15cellular nitrogen compound metabolic processGO:0346419.8TPH1, PAH, TH, DDC
16organ morphogenesisGO:0098879.3TH, AES, NLRP5
17small molecule metabolic processGO:0442818.8DDC, CYP1A2, CYP21A2, PFKL, TH, PAH

Molecular functions related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylase activityGO:00435110.1GAD1, GAD2
2ferrous iron bindingGO:00819810.1TH, EGLN2
3amino acid bindingGO:0165979.8TPH1, PAH, TH, DDC
4pyridoxal phosphate bindingGO:0301709.8DDC, GAD1, GAD2
5glutamate bindingGO:0165959.8GAD1, GAD2
6iron ion bindingGO:0055069.7CYP1A2, CYP21A2, PAH, TPH1

Products for genes affiliated with Autoimmune Polyendocrine Syndrome

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Sources for Autoimmune Polyendocrine Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet