MCID: ATM019
MIFTS: 46

Autoimmune Polyendocrine Syndrome malady

Genetic diseases, Endocrine diseases, Immune diseases, Rare diseases categories

Summaries for Autoimmune Polyendocrine Syndrome

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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 autoimmune polyglandular failure, is related to addison's disease and hypoparathyroidism. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (autoimmune regulator). The compounds metyrapone and clomiphene citrate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testis, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Wikipedia:66 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases


Aliases & Descriptions:

autoimmune polyendocrine syndrome 9 11
autoimmune polyglandular failure 9
polyendocrinopathies, autoimmune 63
polyendocrinopathies autoimmune 46
autoimmune polyendocrinopathy 9
lloyd's syndrome 9


External Ids:

Disease Ontology9 DOID:14040
NCIt41 C84576
MeSH36 D016884
ICD1026 E31.0

Related Diseases for Autoimmune Polyendocrine Syndrome

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Sources:
18GeneCards, 19GeneDecks
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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 87)
idRelated DiseaseScoreTop Affiliating Genes
1addison's disease30.9CYP21A2, AIRE, TPH1
2hypoparathyroidism30.6AIRE, CASR
3diabetes mellitus30.5INS, CASR, AIRE
4alopecia30.4AIRE
5hypopituitarism30.3CYP21A2, INS
6autoimmune thyroiditis30.2AIRE, CYP21A2
7autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2CYP21A2, CASR, TPH1, AIRE
8hypothyroidism30.2AIRE, CASR, INS
9autoimmune polyendocrine syndrome type 110.9
10autoimmune polyendocrine syndrome type 210.7
11hepatitis10.5
12autoimmune polyendocrinopathy type 210.4
13chronic mucocutaneous candidiasis10.3
14autoimmune hepatitis10.3
15vitiligo10.3
16candidiasis10.3
17thyroiditis10.3
18whitaker syndrome10.3
19autoimmune polyendocrinopathy type 410.3
20autoimmune polyendocrinopathy type 310.3
21immunodysregulation, polyendocrinopathy and enteropathy x-linked10.2
22hepatitis c10.2
23neuronitis10.2
24peripartum cardiomyopathy10.2
25acute leukemia10.2
26primary biliary cirrhosis10.2
27systemic lupus erythematosus10.2
28down syndrome10.2
29calcinosis10.2
30cerebellar ataxia10.2
31hepatocellular carcinoma10.2
32hypertension10.2
33intestinal disease10.2
34leukemia10.2
35lupus erythematosus10.2
36turner syndrome10.2
37alopecia totalis10.2
38autoimmune polyglandular syndrome type 210.2
39autoimmune polyglandular syndrome type 310.2
40autoimmune retinopathy10.2
41ataxia10.2
42chorea10.2
43hepatitis c virus10.2
44limbal stem cell deficiency10.1
45progressive muscular atrophy10.1
46pure red-cell aplasia10.1
47oral squamous cell carcinoma10.1
48muscular atrophy10.1
49oral candidiasis10.1
50herpes simplex10.1

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



Diseases related to autoimmune polyendocrine syndrome

Symptoms for Autoimmune Polyendocrine Syndrome

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

34
Thyroid, Brain, Testis, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5CASR, IL17A, INS
2MP:00053868.4CASR, TPH1, INS, AIRE
3MP:00053818.2CASR, IL17A, INS, AIRE
4MP:00053908.1CASR, IL17A, TPH1, INS
5MP:00053978.1AIRE, INS, IL17A, CASR
6MP:00053877.8AIRE, INS, IL17A, CASR
7MP:00053767.8AIRE, INS, TPH1, IL17A, CASR

Publications for Autoimmune Polyendocrine Syndrome

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53PubMed
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Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 74)
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
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
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
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
8
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
9
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
10
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
11
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
12
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. (19303650)
2011
13
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. (22043070)
2011
14
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
15
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
16
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
17
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (20056249)
2010
18
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
19
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
20
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. (19382991)
2009
21
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
22
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
23
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
24
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (18200029)
2008
25
Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. (18000009)
2008
26
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
27
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
28
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
29
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. (17911431)
2007
30
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
31
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. (17129978)
2006
32
Median eminence dopaminergic nerve terminals: a novel target in autoimmune polyendocrine syndrome? (15855266)
2005
33
Hypoparathyroidism and autoimmune polyendocrine syndromes. (15342816)
2004
34
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (14764761)
2004
35
Distinct idiotypes of insulin autoantibody in autoimmune polyendocrine syndrome type 2 and childhood onset type 1 diabetes. (15472233)
2004
36
Association of acute leukemia and autoimmune polyendocrine syndrome in two kindreds. (12970797)
2003
37
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
38
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
39
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
40
The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. (11423552)
2001
41
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
42
Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. (10946908)
2000
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
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999
46
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. (8989249)
1997
47
Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II. (7578849)
1994
48
Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I. (8150232)
1994
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

Variations for Autoimmune Polyendocrine Syndrome

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome

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Sources:
46Novoseek, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB, 3BitterDB
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Compounds related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1metyrapone46 62 1211.9CYP21A2, TPH1
2clomiphene citrate469.8INS, CYP21A2
3cortisone46 2510.8CYP21A2, INS
4dehydroepiandrosterone sulfate469.8INS, CYP21A2
5melatonin46 30 62 25 1213.8TPH1, CYP21A2
6l-tryptophan52 30 46 25 1213.7CASR, TPH1
7c-peptide469.7INS, CYP21A2
8catecholamine469.7TPH1, CYP21A2
9dhea469.7CYP21A2, INS
10androstenedione46 2510.7INS, CYP21A2
11thiazide469.7INS, CASR
12hydrocortisone46 3 62 1212.5INS, CYP21A2
13thyroxine46 2510.4INS, CYP21A2
14p002469.4IL17A, TPH1
15norepinephrine46 25 1211.3CYP21A2, INS, TPH1
16l-amino acid469.3CASR, TPH1, CYP21A2
17valine469.2TPH1, CYP21A2
18ibmx46 62 3011.2INS, IL17A
19leucine469.2CASR, TPH1, CYP21A2
20acth469.2CYP21A2, INS, CASR
21tacrolimus46 52 1211.1IL17A, INS
22dexamethasone46 52 30 1211.8CYP21A2, INS, IL17A
23creatinine468.8INS, IL17A, CASR
24arginine468.7CASR, TPH1, INS, CYP21A2
25glutamate468.7CASR, TPH1, INS, CYP21A2
26nitric oxide46 25 1210.7CASR, IL17A, TPH1
27glucose468.7CYP21A2, INS, CASR
28phosphatidylinositol468.7INS, IL17A, CASR
29serine468.7AIRE, CYP21A2, INS, CASR
30forskolin46 52 1210.4CYP21A2, TPH1, IL17A, CASR
31estrogen467.9CYP21A2, INS, TPH1, IL17A, CASR
32tyrosine467.5CASR, AIRE, CYP21A2, INS, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

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17Gene Ontology
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Molecular functions related to Autoimmune Polyendocrine Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.5TPH1, CYP21A2

Products for genes affiliated with Autoimmune Polyendocrine Syndrome

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Sources for Autoimmune Polyendocrine Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet