MCID: ATM019
MIFTS: 47

Autoimmune Polyendocrine Syndrome malady

Genetic diseases, Endocrine diseases, Immune diseases, Rare diseases categories
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Summaries for Autoimmune Polyendocrine Syndrome

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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 based summary: Autoimmune Polyendocrine Syndrome, also known as polyendocrinopathies, autoimmune, is related to addison's disease and alopecia. 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:65 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 25ICD10
See all sources

Autoimmune Polyendocrine Syndrome, Aliases & Descriptions:

Name: Autoimmune Polyendocrine Syndrome 8 10
Polyendocrinopathies, Autoimmune 62
Autoimmune Polyglandular Failure 8
 
Polyendocrinopathies Autoimmune 44
Autoimmune Polyendocrinopathy 8
Lloyd's Syndrome 8


Classifications:

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


External Ids:

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

Related Diseases for Autoimmune Polyendocrine Syndrome

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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 89)
idRelated DiseaseScoreTop Affiliating Genes
1addison's disease31.0AIRE, CYP21A2, TPH1
2alopecia30.9AIRE
3hypoparathyroidism30.8AIRE, CASR
4hypopituitarism30.5CYP21A2, INS
5autoimmune thyroiditis30.5AIRE, CYP21A2
6diabetes mellitus30.4CASR, INS, AIRE
7autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.2CASR, TPH1, CYP21A2, AIRE
8hypothyroidism30.1AIRE, INS, CASR
9autoimmune polyendocrine syndrome type 111.0
10autoimmune polyendocrine syndrome type 210.7
11hepatitis10.5
12parathyroid gland disease10.5AIRE
13autoimmune polyendocrinopathy type 210.4
14autoimmune hepatitis10.4
15vitiligo10.4
16chronic mucocutaneous candidiasis10.4
17candidiasis10.4
18thyroiditis10.4
19autoimmune polyglandular syndrome type 310.4
20whitaker syndrome10.4
21autoimmune polyendocrinopathy type 410.4
22autoimmune polyendocrinopathy type 310.4
23immunodysregulation, polyendocrinopathy and enteropathy x-linked10.2
24acute leukemia10.2
25cerebellar ataxia10.2
26hepatocellular carcinoma10.2
27hypertension10.2
28leukemia10.2
29primary biliary cirrhosis10.2
30systemic lupus erythematosus10.2
31down syndrome10.2
32hepatitis c10.2
33peripartum cardiomyopathy10.2
34neuronitis10.2
35calcinosis10.2
36lupus erythematosus10.2
37psoriasis10.2
38turner syndrome10.2
39vasculitis10.2
40alopecia totalis10.2
41autoimmune polyglandular syndrome type 210.2
42autoimmune retinopathy10.2
43ataxia10.2
44chorea10.2
45hepatitis c virus10.2
46schimke immunoosseous dysplasia10.2CYP21A2, AIRE
47acanthosis nigricans10.2CYP21A2, INS
48anovulation10.2INS, CYP21A2
49cushing's syndrome10.2INS, CYP21A2
50hyperandrogenism10.1CYP21A2, INS

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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Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyendocrine Syndrome

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Genetic Tests for Autoimmune Polyendocrine Syndrome

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Anatomical Context for Autoimmune Polyendocrine Syndrome

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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

32
Thyroid, Brain, Testis, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

36
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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Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. (24825086)
2014
2
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
3
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
4
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
5
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? (23318858)
2013
6
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
7
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
8
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
9
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
10
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
11
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
12
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
13
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
14
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
15
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
16
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. (19303650)
2011
17
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. (22043070)
2011
18
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
19
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
20
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
21
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (20056249)
2010
22
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
23
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
24
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
25
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. (19382991)
2009
26
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
27
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
28
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
29
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (18200029)
2008
30
Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. (18000009)
2008
31
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
32
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
33
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
34
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. (17911431)
2007
35
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. (17129978)
2006
36
Median eminence dopaminergic nerve terminals: a novel target in autoimmune polyendocrine syndrome? (15855266)
2005
37
Hypoparathyroidism and autoimmune polyendocrine syndromes. (15342816)
2004
38
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (14764761)
2004
39
Association of acute leukemia and autoimmune polyendocrine syndrome in two kindreds. (12970797)
2003
40
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
41
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
42
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
43
The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. (11423552)
2001
44
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
45
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (10594751)
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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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

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Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1metyrapone44 61 1111.9CYP21A2, TPH1
2clomiphene citrate449.8INS, CYP21A2
3cortisone44 2410.8CYP21A2, INS
4dehydroepiandrosterone sulfate449.8INS, CYP21A2
5melatonin44 28 61 24 1113.8TPH1, CYP21A2
6l-tryptophan50 28 44 24 1113.7CASR, TPH1
7c-peptide449.7INS, CYP21A2
8catecholamine449.7TPH1, CYP21A2
9dhea449.7CYP21A2, INS
10androstenedione44 2410.7INS, CYP21A2
11thiazide449.7INS, CASR
12hydrocortisone44 2 61 1112.5INS, CYP21A2
13thyroxine44 2410.4INS, CYP21A2
14p002449.4IL17A, TPH1
15norepinephrine44 24 1111.3CYP21A2, INS, TPH1
16l-amino acid449.3CASR, TPH1, CYP21A2
17valine449.2TPH1, CYP21A2
18ibmx44 61 2811.2INS, IL17A
19leucine449.2CASR, TPH1, CYP21A2
20acth449.2CYP21A2, INS, CASR
21tacrolimus44 50 1111.1IL17A, INS
22dexamethasone44 50 28 1111.8CYP21A2, INS, IL17A
23creatinine448.8INS, IL17A, CASR
24arginine448.7CASR, TPH1, INS, CYP21A2
25glutamate448.7CASR, TPH1, INS, CYP21A2
26nitric oxide44 24 1110.7CASR, IL17A, TPH1
27glucose448.7CYP21A2, INS, CASR
28phosphatidylinositol448.7INS, IL17A, CASR
29serine448.7AIRE, CYP21A2, INS, CASR
30forskolin44 50 1110.4CYP21A2, TPH1, IL17A, CASR
31estrogen447.9CYP21A2, INS, TPH1, IL17A, CASR
32tyrosine447.5CASR, AIRE, CYP21A2, INS, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet