MCID: ATM019
MIFTS: 51

Autoimmune Polyendocrine Syndrome malady

Endocrine category

Summaries for Autoimmune Polyendocrine Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 brain, thyroid and testis, and related mouse phenotypes are endocrine/exocrine gland and no phenotypic analysis.

Wikipedia:64 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

autoimmune polyendocrine syndrome 8 10
polyendocrinopathies, autoimmune 61
autoimmune polyglandular failure 8
polyendocrinopathies autoimmune 45
autoimmune polyendocrinopathy 8
lloyd's syndrome 8


External Ids:

Disease Ontology8 DOID:14040
MeSH35 D016884
NCIt40 C84576
ICD1025 E31.0

Related Diseases for Autoimmune Polyendocrine Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome type 130.9PFKL, TSGA10, KCNRG, NLRP5
2addison's disease30.8DDC, TPH1, TH, CYP21A2, AIRE
3autoimmune hepatitis30.6AIRE, DDC, CYP1A2
4thyroiditis30.4GAD2
5hypoparathyroidism30.4AIRE, NLRP5, CASR
6vitiligo30.4AIRE, PAH, DDC
7autoimmune thyroiditis30.4GAD2, GAD1, AIRE, CYP21A2
8autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2GAD1, DDC, AIRE, CYP1A2, CASR, GAD2
9autoimmune polyendocrine syndrome type 210.6
10n syndrome10.6
11insulin autoimmune syndrome10.5
12hepatitis c10.4
13hepatitis a10.4
14autoimmune polyendocrinopathy type 210.4
15oral candidiasis10.3
16hepatitis e10.3
17chronic mucocutaneous candidiasis10.3
18whitaker syndrome10.3
19autoimmune polyendocrinopathy type 410.3
20autoimmune polyendocrinopathy type 310.3
21autoimmune hypoparathyroidism10.3
22squamous cell carcinoma10.3
23oral squamous cell carcinoma10.3
24primary pulmonary hypertension10.2
25primary biliary cirrhosis10.2
26systemic lupus erythematosus10.2
27west syndrome10.2
28peripartum cardiomyopathy10.2
29hepatitis b10.2
30conn's syndrome10.2
31acute leukemia10.2
32alopecia10.2
33turner syndrome10.2
34alopecia totalis10.2
35autoimmune polyglandular syndrome type 210.2
36autoimmune polyglandular syndrome type 310.2
37hair-an syndrome10.2
38pediatric hypertension10.2
39ataxia10.2
40chorea10.2
41autoimmune disease 110.2
42hepatitis c virus10.2
43limbal stem cell deficiency10.1
44progressive muscular atrophy10.1
45muscular atrophy10.1
46thymoma10.1
47autoimmune enteropathy10.1
48ectodermal dysplasia10.1
49growth hormone deficiency10.1
50large granular lymphocyte leukemia10.1

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



Diseases related to autoimmune polyendocrine syndrome

Clinical Features for Autoimmune Polyendocrine Syndrome

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Autoimmune Polyendocrine Syndrome

Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyendocrine Syndrome

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Search CenterWatch for Autoimmune Polyendocrine Syndrome

Genetic Tests for Autoimmune Polyendocrine Syndrome

Anatomical Context for Autoimmune Polyendocrine Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

33
Brain, Thyroid, Testis, T cells, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Autoimmune Polyendocrine Syndrome

Sources:
51PubMed
See all sources

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
2
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
3
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
4
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. (23648718)
2013
5
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
6
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
7
Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. (22162465)
2012
8
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. (21883495)
2012
9
Autoimmune polyendocrine syndrome-3 in a patient with late-onset multiple sclerosis. (22367836)
2012
10
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
11
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
12
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
13
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
14
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. (20500699)
2010
15
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
16
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
17
Autoimmune hemolityc anemia concomitant with sequential autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Hashimoto's thyroiditis: a new entity of autoimmune polyendocrine syndrome. (19542751)
2009
18
Takotsubo cardiomyopathy associated with autoimmune polyendocrine syndrome II. (19304138)
2009
19
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
20
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
21
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
22
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
23
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (18200029)
2008
24
Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. (18000009)
2008
25
Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. (18708298)
2008
26
Autoimmune polyendocrine syndrome with atrial septal defect. (18277128)
2008
27
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. (18728167)
2008
28
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
29
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
30
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
31
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. (17911431)
2007
32
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
33
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. (17129978)
2006
34
Impaired caspase-3 expression by peripheral T cells in chronic autoimmune thyroiditis and in autoimmune polyendocrine syndrome-2. (16968794)
2006
35
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (14764761)
2004
36
Distinct idiotypes of insulin autoantibody in autoimmune polyendocrine syndrome type 2 and childhood onset type 1 diabetes. (15472233)
2004
37
Association of acute leukemia and autoimmune polyendocrine syndrome in two kindreds. (12970797)
2003
38
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
39
Autoantibodies in autoimmune polyendocrine syndrome type II. (12092456)
2002
40
Autoimmune polyendocrine syndrome (APS)]. (12564102)
2002
41
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
42
The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. (11423552)
2001
43
Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. (10623641)
2000
44
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (10594751)
1999
45
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II. (10376448)
1999
46
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. (8989249)
1997
47
Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I. (9276443)
1997
48
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. (8636356)
1996
49
Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease. (8227354)
1993
50
Autoimmune polyendocrine syndrome. Treatment with intravenous immunoglobulins]. (1468197)
1992

Genetic Variations for Autoimmune Polyendocrine Syndrome

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Autoimmune Polyendocrine Syndrome

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1forskolin45 50 1112.6TH
2α-propyldopacetamide2910.5TH, TPH1
3benserazide45 2911.4TH, DDC
4pcpa2910.4PAH, TPH1
53-hydroxybenzylhydrazine45 2911.4TPH1, TH, DDC
6l-dops4510.4TH, DDC
7hpah4510.4PAH, TH
8carbidopa45 2911.4DDC, TH, TPH1
9mdma4510.4DDC, TH, TPH1
107,8-Dihydrobiopterin1110.4TH, PAH
115-hydroxytryptophan4510.4TPH1, TH, DDC
12tetrahydropterin4510.3TPH1, PAH, TH
13homovanillic acid45 2411.3TPH1, TH, DDC
144a-hydroxytetrahydrobiopterin45 2411.3PAH, TPH1, TH
15dihydrobiopterin45 2411.3PAH, TH, TPH1
16l-tryptophan45 29 11 2413.3CASR, DDC, TPH1
17clorgyline4510.3CYP1A2, TH
18sepiapterin45 2411.3TH, PAH, TPH1
19pterin45 2411.3PAH, TPH1, TH
20l-dopa29 2411.3TH, DDC
215-hydroxy-l-tryptophan29 2411.3TPH1, DDC
22L-Phenylalanine11 2411.3DDC, TH, PAH
23metyrapone60 45 1112.3TPH1, CYP21A2, CYP1A2
24ibotenic acid4510.2GAD1, TH
25selegiline45 1111.2TH, DDC, CYP1A2
26tetrahydrobiopterin45 11 2412.2PAH, TPH1, TH, DDC
27pyridoxal 5-phosphate4510.1GAD2, DDC, GAD1
28Pyridoxal Phosphate1110.1GAD1, DDC, GAD2
29mptp4510.1TH, GAD2, DDC, GAD1
30hydrogen45 2411.1CYP21A2, PAH, GAD1
31hypotaurine60 45 2412.1GAD1, GAD2
32l-amino acid4510.1TH, CASR, DDC, TPH1, CYP21A2
33melatonin45 60 29 11 2414.1TPH1, CYP21A2, PAH, CYP1A2
34catecholamine4510.0DDC, CYP21A2, TH, PAH, TPH1
35choline45 11 2412.0GAD2, GAD1, TH, TPH1, DDC
36cysteine sulfinic acid4510.0GAD1, GAD2
37phenylalanine459.9CASR, DDC, TH, PAH, TPH1
38c-peptide459.9CYP21A2, GAD1, GAD2
39gaba459.8TPH1, TH, CASR, GAD1, DDC, GAD2
40epinephrine45 11 2411.8DDC, PAH, TH, CYP21A2, CYP1A2
41levodopa45 1110.8PAH, TH, DDC, TPH1, GAD2, GAD1
42norepinephrine45 11 2411.7CYP21A2, DDC, TPH1, PAH, TH, CYP1A2
43iron45 2410.7PAH, EGLN2, TPH1, TH, GAD1
44tetrodotoxin45 60 2911.6GAD1, GAD2, TH
45glutamate459.6DDC, CASR, GAD2, CYP21A2, TH, TPH1
46dopamine45 29 11 2412.5TH, PAH, TPH1, DDC, CYP1A2, GAD1
47nitric oxide45 11 2411.5IL17A, PAH, GAD2, CASR, CYP1A2, GAD1
48oxygen45 2410.4CYP21A2, EGLN2, GAD1, CYP1A2, PAH, TH
49alanine459.4GAD2, GAD1, DDC, TH, PAH, CASR
50tyrosine459.1TPH1, GAD2, DDC, AIRE, CYP21A2, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Polyendocrine Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet